StudyFinder
Search Results Within Category "Gastroenterology/Digestive Tract/Stomach/Liver"
35 Study Matches
Streamlined Treatment of Pulmonary Exacerbations in Pediatrics (STOP PEDS RCT)
Sharon Kadon - sharon.kadon@cchmc.org
ALL
3 years to 18 years old
NA
NCT06654752
Inclusion Criteria:
• Age
• For main cohort and non-HEMT cohort: age 6 to \<19 years
• For preschool cohort: age 3 to \<6 years
• Documentation of a CF diagnosis as evidenced by one or more clinical features consistent with the CF phenotype and one or more of the following criteria:
• sweat chloride ≥ 60 mEq/liter
• two disease-causing variants in the cystic fibrosis transmembrane conductive regulator (CFTR) gene
• Written informed consent (and assent when applicable) obtained from participant or participant's legal representative and ability of participant to comply with the requirements of the study
• Highly Effective Modulator Therapy
• For main cohort and preschool cohort: Taking HEMT for at least 3 months at enrollment
• For non-HEMT cohort: not eligible for HEMT based on CFTR genotype or eligible but not taking for at least 3 months and no plans to start HEMT in the next year, and also not taking tezacaftor-ivacaftor or lumacaftor-ivacaftor for at least 3 months
• For main cohort and non-HEMT cohort: able to perform acceptable and reproducible spirometry
• For main cohort and non-HEMT cohort: ppFEV1 ≥ 50% predicted at enrollment based on the Global lung Initiative (GLI) reference equations
• Ability to receive text messages and access the internet
Exclusion Criteria:
• Presence of a condition or abnormality that in the opinion of the Investigator would compromise the safety of the individual or the quality of the data
• Receiving an acute course of oral or IV antibiotics at the time of enrollment or within the 14 days prior to enrollment. Individuals may be re-screened ≥21 days after completion of antibiotics if they are at their baseline state of health, per self-report
• Treatment with systemic corticosteroids at enrollment or within the 14 days prior to enrollment. Individuals may be re- screened ≥21 days after completion of systemic corticosteroids if they are at their clinical baseline, per self-report
• History of solid organ transplant
• History of positive culture for Mycobacterium abscessus in the 12 months prior to enrollment
• Treatment with antibiotics for any non-tuberculous mycobacteria (NTM) at enrollment
• Three or more IV antibiotic-treated PEx in the 12 months prior to enrollment
• Treatment with chronic oral antibiotics other than azithromycin at enrollment
• Treatment with systemic corticosteroids for allergic bronchopulmonary aspergillosis (ABPA) in the 12 months prior to enrollment
OTHER: Immediate Oral Antibiotics, OTHER: Tailored Treatment: Oral Antibiotics only if Additional Treatment needed
Cystic Fibrosis
cystic fibrosis, oral antibiotics, pulmonary exacerbation, pediatric
A Prospective Database of Infants With Cholestasis (PROBE)
Jennifer Hawkins - jennifer.hawkins@cchmc.org
ALL
Up to 6 month(s) old
NCT00061828
INCLUSION CRITERIA
* Infant's age less than or equal to 180 days at initial presentation at the ChiLDReN clinical site.
* Diagnosis of cholestasis defined by serum direct or conjugated bilirubin greater than or equal to 2 mg/dl and suspected biliary atresia.
* The subject's parent(s)/guardian(s) willing to provide informed written consent.
EXCLUSION CRITERIA
* Acute liver failure.
* Previous hepatobiliary surgery with dissection or excision of biliary tissue.
* Diagnoses of bacterial or fungal sepsis (except where associated with metabolic liver disease)
* Diagnoses of hypoxia, shock or ischemic hepatopathy within the past two weeks (If the cholestasis persists beyond two weeks of the initiating event, the infant can be enrolled).
* Diagnosis of any malignancy.
* Presence of any primary hemolytic disease (except when diagnosed with biliary atresia or another cholestatic disease being studied by ChiLDREN).
* Diagnosis of any drug or Total parenteral nutrition (TPN)-associated cholestasis (except when diagnosed with biliary atresia or another cholestatic disease being studied by ChiLDREN).
* Diagnosis with Extracorporeal membrane oxygenation (ECMO)-associated cholestasis.
* Birth weight less than 1500g (except when diagnosed with biliary atresia).
Biliary Atresia
Precise Infliximab Exposure and Pharmacodynamic Control (REMODEL-CD)
Kimberly Jackson - kimberly.jackson@cchmc.org
ALL
6 years to 22 years old
PHASE2
NCT05660746
Inclusion Criteria:
• Written informed consent from the patient (≥18 years old) or from parent/legal guardian if patient is \<18 years old
• Written informed assent from patient when age appropriate
• Diagnosis of Crohn's disease within the last 90 days (luminal-only or luminal with a perianal fistula or abscess treated with antibiotics for at least 7 days)
• ≥6 years to ≤22 years of age, anti-TNF naïve and starting infliximab
• Clinical activity and luminal inflammation, defined by both (1) and (2) * (1) PCDAI≥10 (\<18 years old) or CDAI ≥150 (≥18 years old) in last 60 days before the decision to start infliximab * (2) SES-CD\>6, or SES-CD\>3 for isolated ileal disease (or a report of large intestinal ulcerations)\* within the last 60 days or a fecal calprotectin \>250 μg/g within last 75 days prior to screening
• C-reactive protein \>1.0 mg/dL in last 30 days and/or fecal calprotectin \>250 μg/g within last 75 days prior to screening
• Negative TB (tuberculosis) interferon-gamma release test and a negative urine pregnancy test for female patients (if menstruation has started)
Exclusion Criteria:
• Diagnosis of ulcerative colitis or inflammatory bowel disease-unspecified
• Prior use of anti-TNF therapy (infliximab, adalimumab, certolizumab pegol, or golimumab)
• Internal (abdominal/pelvic) penetrating fistula(e) in last 180 days
• Intra-abdominal abscess/phlegmon/inflammatory mass in the last 180 days
• Active perianal abscess (receiving oral antibiotics for \<7 days)
• Intestinal stricture (luminal narrowing with pre-stenotic dilation \>3 cm) and surgery planned in the next 90 days
• Have tested positive for Clostridium difficile toxin (stool assay) or other intestinal pathogens within 14 days of screening unless a repeat examination is negative and there are no signs of ongoing infection with that pathogen.
• Current hospitalization for complications of severe Crohn's disease
• Planned use of methotrexate or 6-mercaptopurine (azathioprine) during the induction (first 3 doses of infliximab) phase
• Current ileostomy, colostomy, ileoanal pouch, and/or previous extensive small bowel resection (\>35 cm) or any CD surgery planned within the next 90 days
• History of autoimmune hepatitis, primary sclerosing cholangitis, thyroiditis, or juvenile idiopathic arthritis
• Treatment with another investigational drug in the last four weeks
• History of malignancy (including lymphoma or leukemia)
• Currently receiving treatment for histoplasmosis
• History of TB, human immunodeficiency virus (HIV), an immunodeficiency syndrome, a central nervous system demyelinating disease, history of heart failure or receiving intravenous antibiotics in last 14 days for any infection
• Currently pregnant, breast feeding or plans to become pregnant in the next 1 year
• Inability or failure to provide informed assent/consent
• Any developmental disabilities that would impede providing assent/consent
DEVICE: RoadMAB, DRUG: Infliximab
Crohn Disease
Crohn's
Biospecimen Collection to Identify Gene Mutations for High Risk Pancreatic Cancer in Pediatric Patients, INSPPIRE 2 Study
Maisam Abu-El-Haija - Maisam.Haija@cchmc.org
ALL
Up to 17 years old
NCT06651580
Inclusion Criteria:
* All subjects/parents must sign an informed consent and/or assent indicating that they are aware of the investigational nature of this study
* Subjects/parents must have signed an authorization for the release of their or their child's protected health information
* All children must be under 18 years of age at the time of enrollment
* All children providing samples should fit the ARP or CP inclusion criteria defined below:
* Acute pancreatitis (AP): AP is defined as requiring 2 of the following:
* Abdominal pain compatible with AP
* Serum amylase and/or lipase values \>= 3 times upper limits of normal
* Imaging findings of AP, such as gland enlargement, acute inflammatory changes, and fluid collections
* ARP is defined as: At least 2 episodes of acute pancreatitis with complete resolution of pain and a \>= 1 month pain-free interval between episodes
* Chronic Pancreatitis:
* Children with at least:
* One irreversible structural change in the pancreas with or without abdominal pain +/- exocrine pancreatic insufficiency +/- diabetes
* Irreversible structural changes:
* Ductal calculi, dilated side branches, parenchymal calcifications found in any imaging (abdominal ultrasound \[abd US\], magnetic resonance imaging/magnetic resonance cholangiopancreatography \[MRI/MRCP\], computerized tomography \[CT\], endoscopic retrograde cholangiopancreatography \[ERCP\], endoscopic US \[EUS\])
* Ductal obstruction or stricture/dilatation/irregularities that are persistent (for \>= 2 months) on any imaging
* Parenchymal atrophy, irregular contour, accentuated lobular architecture, cavities alone are not diagnostic findings for CP
* Surgical or pancreatic biopsy specimen demonstrating histopathologic features compatible with CP (acinar atrophy, fibrosis, protein plugs, infiltration with lymphocytes, plasma cells, macrophages)
Exclusion Criteria:
* Subjects must not have any significant medical illnesses that in the investigator's opinion cannot be adequately controlled with appropriate therapy or would compromise the subject's ability to tolerate study interventions PROCEDURE: Biospecimen Collection, OTHER: Quality-of-Life Assessment, OTHER: Questionnaire Administration
Chronic Pancreatitis, Exocrine Pancreas Carcinoma, Recurrent Acute Pancreatitis
Relapsed and Refractory Hepatoblastoma: A Prospective Registry and Liver Tumor Research Consortium Initiative
- rrHBLRegistry@cchmc.org
ALL
NCT05556642
Inclusion Criteria:
* All patients of any age with a suspected diagnosis (per treating oncologist/surgeon) or confirmed diagnosis of a rrHBL and all patients with Hepatocellular Malignant Neoplasm- Not Otherwise Specified (HCN-NOS) who are \<6 years of age at the time of initial diagnosis
* To allow for tumor modelling to be performed with fresh tissue from these cases, patients with suspected rrHBL are eligible to enroll on study
* Unless the patient is deceased, all patients and/or one parent or legal guardian must provide written informed consent as well as HIPAA/release of information consent
Exclusion Criteria:
* None OTHER: Biospecimen collection
Relapsed Hepatoblastoma, Refractory Hepatoblastoma
Feto-Endoscopic Tracheal Occlusion (FETO) for Severe Congenital Diaphragmatic Hernia (FETO)
Sandi Bechtol - sandra.bechtol@cchmc.org
FEMALE
18 years to 50 years old
NA
NCT02986087
Inclusion Criteria:
* Isolated CDH with liver up
* Severe pulmonary hypoplasia with ultrasound O/E LHR \<25% at the time of surgery
* Gestational age at FETO procedure 27 weeks 0 days to 29 weeks 6 days
* Moderate pulmonary hypoplasia with ultrasound O/E LHR \<30% and liver-up at the time of surgery
* Gestational age at FETO procedure 30 weeks 0 days to 31 weeks 6 days in this moderate category
* Maternal age greater than or equal to 18 years
* Gestational age at enrollment prior to 29 weeks 6 days, or 31 weeks 6 days in moderate category
* Normal karyotype or FISH
* Normal fetal echocardiogram
* Singleton pregnancy
* Willing to remain in the greater Cincinnati area for remainder of pregnancy
* Family considered and decline option of termination of the pregnancy at less than 24 weeks 0 days
* Family meets psychosocial criteria
Exclusion Criteria:
* Patient \< 18 years old
* Multi-fetal pregnancy
* Rubber latex allergy
* Preterm labor, cervix shortened (\<15 mm) or uterine anomaly strongly predisposing to preterm labor, placenta previa
* Bilateral CDH, isolated left sided CDH with an O/E \> 30%
* Additional fetal anomaly by ultrasound, MRI, or echocardiogram
* Chromosomal abnormalities
* Maternal contraindications to fetoscopic surgery or severe maternal condition in pregnancy
* Incompetent cervix with or without a cerclage
* Placental abnormalities known at time of enrollment
* Maternal HIV, Hepatits B, Hepatitis C
* Maternal uterine anomaly
* No safe or technically feasible fetoscopic approach to balloon placement
* Participation in another intervention study that influences maternal and fetal morbidity and mortality or participation in this trial in a previous pregnancy DEVICE: Fetal Tracheal Occlusion
Congenital Diaphragmatic Hernia, Pulmonary Hypoplasia, Pulmonary, Hypertension
Clinical, Imaging, and Endoscopic Outcomes of Children Newly Diagnosed With Crohn's Disease (CAMEO)
Katie Lake - kathleen.lake@cchmc.org
ALL
6 years to 17 years old
PHASE4
NCT05781152
Phase 1 Inclusion Criteria
• Age ≥ 6 years and \< 18 years at enrollment
• Suspected diagnosis of CD
• Stool culture if performed that is negative for routine enteric pathogens (Salmonella, Shigella, Campylobacter, E. coli 0157:H7) and Clostridium difficile toxin in patients presenting with diarrhea. If history of C. difficile then a minimum of 6 weeks duration from treatment start and negative repeat stool for C. difficile toxin.
• Parent/guardian consent and patient assent
• Ability to remain in follow-up for up to 6 months of initial observation followed by a minimum of 52 weeks after possible start of anti-TNF therapy Phase 1 Exclusion Criteria
• Diagnosis of CD following abdominal resectional surgery/appendectomy at initial presentation
• Investigator judgment that patient has high likelihood (\>50%) of needing bowel resection within 3 months of diagnosis (i.e., presentation with perforation, bowel obstruction from stricture)
• Use of any oral CS for non-gastrointestinal indication within the four weeks prior to diagnostic assessment and biosampling (e.g., asthma)
• Use of any investigational drug within the past four weeks prior to diagnostic assessment and sampling
• Pregnancy
• Patients with poorly controlled medical conditions (e.g. diabetes, congestive heart failure)
• Previous treatment with immunomodulators within one year of enrollment or anti-TNF therapy within two years of enrollment for other medical conditions (e.g., juvenile idiopathic arthritis)
• Previous treatment with non-anti TNF biologics or small molecules for non-IBD indications in the past 6 months, with the exception of dupilumab (Dupixent) for asthma, eczema, or eosinophilic esophagitis
• Inability to have MRE because of claustrophobia or other reasons Phase 2 Inclusion Criteria
• Met all eligibility criteria for Phase 1 and participated in Phase 1
• Diagnosed with macroscopic CD involving the terminal ileum and/or colon by endoscopic evaluation and/or MRE
• MRE imaging within 6 weeks of ileocolonoscopy and no more than 4 weeks after starting initial therapy (TT). A limited 'research protocol' MRE is acceptable in participants who have undergone a clinical CTE during their initial diagnostic evaluation; see Manual of Procedures for details.
• Received at least one of the following as initial therapy upon diagnosis:
• Corticosteroids
• Immunomodulator
• Aminosalicylic acids (5-ASA)
• Defined nutritional therapy
• Anti-TNF (adalimumab or infliximab)
• Commenced adalimumab or infliximab anti-TNF therapy guided by ROADMAB™ CDST as first therapy or within 180 days of diagnosis (TD), with or without concomitant immunomodulator 6 a. Had ileal and rectal biopsies, OR b. Ileal biopsies are not obtained secondary to inflammatory or structural changes at the ileocecal valve or distal ileum that prevent ileal intubation. To be acceptable for Phase 2, the following additional criteria must be met: b1. Gross inflammation or obvious narrowing at the IC valve or distal ileum as documented by the video colonoscopy, AND b2. MRE documentation of TI inflammation with or without narrowing, OR c. Ileal biopsies are not obtained secondary to inflammatory or structural changes due to colonic CD. 7\. Parent/guardian consent and patient assent 8. Ability to remain in follow-up for a minimum of 52 weeks after start of anti-TNF therapy Phase 2 Exclusion Criteria
• Diagnosis of CD using video capsule endoscopy only with normal ileocolonoscopy and normal MRE
• Orofacial CD only
• Esophageal, gastric, duodenal, and/or jejunal CD only
• Severe complex fistulizing perianal disease +/- abscess, or perianal disease requiring surgical intervention or likely to require on-going surgical intervention possibly including diversion. The placement of a seton is not exclusionary. Incision and drainage of a perirectal abscess is also not exclusionary.
• Perianal CD only with no evidence of luminal disease
• Internal fistulizing disease at diagnosis
• Initial IBD treatment with non-anti-TNF biologic or small molecule therapy
• Received any anti-TNF agent other than adalimumab or infliximab
• Investigator judgment that patient unlikely to return for clinical, endoscopic or MRE follow-up
• Inability to have MRE because of claustrophobia or other reasons
• Video of baseline endoscopy not available for central reading, unless otherwise approved by the Clinical Coordinating Center (Adequate photo documentation required)
• Underwent bowel resection within 3 months of diagnosis (TD)
• Age ≥ 6 years and \< 18 years at enrollment
• Suspected diagnosis of CD
• Stool culture if performed that is negative for routine enteric pathogens (Salmonella, Shigella, Campylobacter, E. coli 0157:H7) and Clostridium difficile toxin in patients presenting with diarrhea. If history of C. difficile then a minimum of 6 weeks duration from treatment start and negative repeat stool for C. difficile toxin.
• Parent/guardian consent and patient assent
• Ability to remain in follow-up for up to 6 months of initial observation followed by a minimum of 52 weeks after possible start of anti-TNF therapy Phase 1 Exclusion Criteria
• Diagnosis of CD following abdominal resectional surgery/appendectomy at initial presentation
• Investigator judgment that patient has high likelihood (\>50%) of needing bowel resection within 3 months of diagnosis (i.e., presentation with perforation, bowel obstruction from stricture)
• Use of any oral CS for non-gastrointestinal indication within the four weeks prior to diagnostic assessment and biosampling (e.g., asthma)
• Use of any investigational drug within the past four weeks prior to diagnostic assessment and sampling
• Pregnancy
• Patients with poorly controlled medical conditions (e.g. diabetes, congestive heart failure)
• Previous treatment with immunomodulators within one year of enrollment or anti-TNF therapy within two years of enrollment for other medical conditions (e.g., juvenile idiopathic arthritis)
• Previous treatment with non-anti TNF biologics or small molecules for non-IBD indications in the past 6 months, with the exception of dupilumab (Dupixent) for asthma, eczema, or eosinophilic esophagitis
• Inability to have MRE because of claustrophobia or other reasons Phase 2 Inclusion Criteria
• Met all eligibility criteria for Phase 1 and participated in Phase 1
• Diagnosed with macroscopic CD involving the terminal ileum and/or colon by endoscopic evaluation and/or MRE
• MRE imaging within 6 weeks of ileocolonoscopy and no more than 4 weeks after starting initial therapy (TT). A limited 'research protocol' MRE is acceptable in participants who have undergone a clinical CTE during their initial diagnostic evaluation; see Manual of Procedures for details.
• Received at least one of the following as initial therapy upon diagnosis:
• Corticosteroids
• Immunomodulator
• Aminosalicylic acids (5-ASA)
• Defined nutritional therapy
• Anti-TNF (adalimumab or infliximab)
• Commenced adalimumab or infliximab anti-TNF therapy guided by ROADMAB™ CDST as first therapy or within 180 days of diagnosis (TD), with or without concomitant immunomodulator 6 a. Had ileal and rectal biopsies, OR b. Ileal biopsies are not obtained secondary to inflammatory or structural changes at the ileocecal valve or distal ileum that prevent ileal intubation. To be acceptable for Phase 2, the following additional criteria must be met: b1. Gross inflammation or obvious narrowing at the IC valve or distal ileum as documented by the video colonoscopy, AND b2. MRE documentation of TI inflammation with or without narrowing, OR c. Ileal biopsies are not obtained secondary to inflammatory or structural changes due to colonic CD. 7\. Parent/guardian consent and patient assent 8. Ability to remain in follow-up for a minimum of 52 weeks after start of anti-TNF therapy Phase 2 Exclusion Criteria
• Diagnosis of CD using video capsule endoscopy only with normal ileocolonoscopy and normal MRE
• Orofacial CD only
• Esophageal, gastric, duodenal, and/or jejunal CD only
• Severe complex fistulizing perianal disease +/- abscess, or perianal disease requiring surgical intervention or likely to require on-going surgical intervention possibly including diversion. The placement of a seton is not exclusionary. Incision and drainage of a perirectal abscess is also not exclusionary.
• Perianal CD only with no evidence of luminal disease
• Internal fistulizing disease at diagnosis
• Initial IBD treatment with non-anti-TNF biologic or small molecule therapy
• Received any anti-TNF agent other than adalimumab or infliximab
• Investigator judgment that patient unlikely to return for clinical, endoscopic or MRE follow-up
• Inability to have MRE because of claustrophobia or other reasons
• Video of baseline endoscopy not available for central reading, unless otherwise approved by the Clinical Coordinating Center (Adequate photo documentation required)
• Underwent bowel resection within 3 months of diagnosis (TD)
DRUG: Anti-TNF therapy
Crohn Disease
crohn disease, children, pediatric, anti-TNF therapy, therapeutic drug monitoring, intestinal microbiome, inflammatory bowel disease, gene expression, genomic DNA
Study to Evaluate Biological & Clinical Effects of Significantly Corrected CFTR Function in Infants & Young Children (BEGIN)
Kelly Thornton - kelly.thornton@cchmc.org
ALL
Up to 10 years old
NCT04509050
Inclusion Criteria:
* Part A:
* Less than 10 years of age at the first study visit.
* Documentation of a CF diagnosis.
Part B:
* Participated in Part A OR less than 7 years of age at the first study visit.
* Documentation of a CF diagnosis.
* CFTR mutations consistent with FDA labeled indication of highly effective modulator therapy (ivacaftor or elexacaftor/tezacaftor/ivacaftor).
* Physician intent to prescribe ivacaftor or elexacaftor/tezacaftor/ivacaftor.
Exclusion Criteria:
* Part A and Part B:
* Use of an investigational drug within 28 days prior to and including the first study visit.
* Use of ivacaftor or elexacaftor/tezacaftor/ivacaftor within the 28 days prior to and including the first study visit.
* Use of chronic oral corticosteroids within the 28 days prior to and including the first study visit. DRUG: Ivacaftor or elexacaftor/tezacaftor/ivacaftor
Cystic Fibrosis
Cystic Fibrosis, CF, CFTR Modulator, triple combination therapy, elexacaftor, tezacaftor, ivacaftor
Early Signals of the Transition From Immune Quiescence to Activation in the Liver Allograft Microenvironment and in the Circulation (iSYNAPSE)
Erin Chapman - Erin.Chapman@cchmc.org
ALL
3 years to 13 years old
PHASE2
NCT07549503
Inclusion Criteria:
• Participant and parent or guardian must be able to understand and provide informed assent and consent, respectively
• Recipient of a living or deceased donor Liver transplant (LTx) at \<7 years of age
• \> 3 years but \<7 years after LTx at the time of study enrollment
• Stable liver tests defined as baseline serum alanine aminotransferase (ALT) level \< 30 IU/l and gamma-glutamyl transferase (GGT) level \< 50 IU/l (based on the average of the 3 most recent values prior to screening; all must be within 1 year of screening; 2 must be within 6 months of screening)
• No Acute rejection (AR) or chronic rejection within 12 months of enrollment
• Tacrolimus monotherapy for \> 6 months with baseline 12-hour trough levels \<8 ng/mL (based on the average of 3 values prior to screening; all must be within 1 year of screening; 2 must be within 6 months of screening)
• Participants of childbearing potential must have a negative pregnancy test upon study entry
Exclusion Criteria:
• Liver transplant (LTx) for autoimmune disease, including autoimmune hepatitis or primary sclerosing cholangitis
• LTx for hepatitis B or hepatitis C
• Recipient of any other organ transplant or liver re-transplant, except for patients who have a repeat LTx within 30 days of first LTx who are eligible for enrollment
• \>=50 percent dose increase in tacrolimus within 12 months of enrollment
• Discontinued a second Immunosuppression (IS) agent within 12 months of enrollment
• Systemic illness requiring chronic or recurrent use of IS for which there is a risk of reactivation if tacrolimus is reduced
• Use of medication to treat systemic conditions which in the judgement of the investigator could influence results of the study
• Active or chronic infection requiring treatment
• Inability or unwillingness to comply with the study protocol
• Use of investigational drug within 4 weeks (or 5 half-lives of investigational drug, whichever is longer) of enrollment
• Has any condition that, in the opinion of the investigator, will interfere with safe participation in the trial
DRUG: Immunosuppression Reduction
Liver Transplant
Liver transplant, Immunosuppression
International Collaborative Gaucher Group (ICGG) Gaucher Disease Registry & Pregnancy Sub-registry
Laurie Bailey - laurie.bailey@cchmc.org
ALL
NCT00358943
Inclusion Criteria:
ICGG Gaucher Registry
* All patients with a confirmed diagnosis of Gaucher disease are eligible for inclusion in the Registry. Confirmed diagnosis is defined as a documented β-glucocerebrosidase deficiency and/or mutation in the β-glucocerebrosidase gene.
* For all patients, appropriate patient authorization will be obtained.
Gaucher Pregnancy Sub-registry:
* be enrolled in the ICGG Gaucher Registry.
* be pregnant, or have been pregnant with appropriate medical documentation available.
* provide a signed informed consent and authorization form(s) to participate in the Sub-Registry prior to any Sub-Registry-related data collection being performed.
Exclusion Criteria:
\- No exclusion criteria for participation in the ICGG Gaucher Registry and Sub-registry. Gaucher Disease, Cerebroside Lipidosis Syndrome, Glucocerebrosidase Deficiency Disease, Glucosylceramide Beta-Glucosidase Deficiency Disease
Gaucher Disease, Glucocerebrosidase Deficiency Disease
Regional Monitoring of CF Lung Disease
Carrie Stevens, BS - carrie.stevens@cchmc.org
ALL
12 years to 21 years old
EARLY_PHASE1
NCT06339593
Inclusion Criteria:
* 1 Written informed consent (and assent when applicable) obtained from subject or subject's legal representative.
2 Use of highly effective modulators for more than 30 days (ie. Trikafta) 3 Willingness and ability to adhere to the study visit schedule and other protocol requirements.
4 Documentation of a CF diagnosis with prescription of Mechanical ACT 5 Ages 12-21 inclusive, at the time of consent. 6 Clinically stable with no respiratory tract infection or recent exacerbations. 7 Treating CF physician agreeable to study procedures. Only applicable to Aim 3.
8 No change in chronic maintenance therapies in the 28 days prior to enrollment.
9 Ability to cooperate with MRI procedures.
Exclusion Criteria:
• Standard MRI exclusions (metal implants, claustrophobia).
• For females of childbearing potential: Positive urine pregnancy test or Lactating.
• Acute respiratory symptoms (e.g., wheezing) at the time of the MRI
• Chronic lung or liver or pancreatic disease not related to CF.
• Any other condition that, in the opinion of the Investigator, would preclude informed consent or assent, make study participation unsafe, complicate interpretation of study outcome data, or otherwise interfere with achieving the study objectives.
PROCEDURE: Airway-clearance vest, DRUG: Hyperpolarized Xe129
Cystic Fibrosis
Safety and Efficacy of FETO in CDH Phase III (CDH FETO)
Foong-Yen Lim - foong.yen.lim@cchmc.org
FEMALE
18 years to 50 years old
PHASE3
NCT07187206
Inclusion Criteria:
* Pregnant women 18 years and older, who are able to consent
* Singleton pregnancy
* Gestational age at enrollment is prior to 296 weeks
* Intrathoracic liver herniation
* Isolated Left CDH with o/e LHR \< 30% at enrollment (180 to 295 weeks) or
* Isolated Right CDH with o/e LHR \< 45% at enrollment (180 to 295 weeks)
* Normal fetal karyotype with confirmation by culture results, CMA with non-pathological variants, WES or WGS. Results by fluorescence in situ hybridization (FISH) will be acceptable if the patient is \> 26 weeks
* Cervical length by transvaginal ultrasound \> 20 mm within 24 hours prior to FETO procedure
* Patient meets psychosocial criteria
* Informed consent understood
Exclusion Criteria
* Patient \< 18 years of age
* Multi-fetal pregnancy
* History of natural rubber latex allergy
* Preterm labor, cervix shortened (\< 20 mm at enrollment or within 24 hours prior to FETO balloon insertion) or uterine anomaly strongly predisposing to preterm labor, or placenta previa.
* Psychosocial ineligibility, precluding consent:
* Inability to reside within 30 minutes of Cincinnati Children's Hospital Medical Center and inability to comply with the travel for the follow-up requirements of the trial.
* The patient does not have a support person (e.g. spouse, partner, mother) available to stay with the patient for the duration of the pregnancy at Cincinnati Children's Hospital Medical Center.
* Bilateral CDH, isolated LCDH with o/e LHR ≥ 30%, isolated RCDH with o/e LHR \> 45%, as determined by ultrasound.
* No liver herniation into thoracic cavity
* Additional fetal anomaly and chromosomal abnormalities, associated anomalies recognized to alter survival prognosis (i.e., congenital heart disease) or presence of an underlying genetic syndrome (i.e., Fryns) by ultrasound, MRI, or echocardiogram at the fetal treatment center.
* Maternal contraindication to fetoscopic surgery or severe maternal medical condition in pregnancy
* History of incompetent cervix with or without cerclage
* Placental abnormalities (previa, abruption, accreta) known at time of enrollment
* Maternal-fetal Rh isoimmunization, Kell sensitization or neonatal alloimmune thrombocytopenia affecting the current pregnancy
* Maternal HIV, Hepatitis-B, Hepatitis-C positive because of the increased risk of transmission to the fetus during maternal-fetal surgery. If the patient's HIV status is unknown, the patient must be tested and found to have negative results before enrollment.
* Positive Hepatitis B surface antigen or presence of Hepatitis C in maternal blood uterine anomaly such as Mullerian duct abnormality, large or multiple fibroids that prohibit safe fetoscopic procedure
* There is no safe or technically feasible fetoscopic approach to balloon placement
* Participation in another intervention study that influences maternal and fetal morbidity and mortality, or participation in this trial in a previous pregnancy DEVICE: FETO, Fetal Endoluminal Tracheal Occlusion
Congenital Diaphragmatic Hernia, Pulmonary Hypoplasia, Pulmonary Hypertension
ARPKD Database Study (ARPKD)
Kelli Krallman - Kelli.Krallman@cchmc.org
ALL
Up to 18 years old
NCT01401998
Inclusion Criteria:
* Demonstration of hepato/renal fibrocystic disease by clinical information, imaging studies, biopsy, autopsy, or genetic testing.
Exclusion Criteria:
* ADPKD Urinary tract malformations Major congenital anomalies of other systems Hepato/Renal Fibrocystic Disease, Autosomal Recessive Polycystic Kidney Disease, Joubert Syndrome, Bardet Biedl Syndrome, Meckel-Gruber Syndrome, Congenital Hepatic Fibrosis, Caroli Syndrome, Oro-Facial-Digital Syndrome Type I, Nephronophthisis, Glomerulocystic Kidney Disease
cystic kidney disease, polycystic kidney disease, congenital hepatic fibrosis, genetic disease
Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science (DHREAMS)
Trish Burns - trish.burns@cchmc.org
ALL
NCT00950118
Inclusion Criteria:
* All individuals affected with a congenital diaphragmatic hernia (CDH), or with a family history of a CDH
Exclusion Criteria:
* Individuals with no personal history of a CDH or family history of a family member affected with congenital diaphragmatic hernia Congenital Diaphragmatic Hernia
Congenital Diaphragmatic Hernia (CDH), Genes, Genetic, Genetic testing, exome sequencing, genome sequencing, RNAseq
Data and Sample Collection Study to Elucidate the Mechanisms of Eosinophilic Disorders
Bliss Magella - bliss.magella@cchmc.org
ALL
NCT00267501
Inclusion Criteria:
* Signed informed consent obtained from the patient or parent/guardian. Assent will be obtained from all minors 11 years of age and older.
* Carrying a diagnosis of eosinophilic gastrointestinal disease, eosinophilic inflammatory disease, or food allergy OR family member, or normal control Eosinophilic Gastrointestinal Disease Eosinophilic Inflammatory Disease, Food Allergy
Eosinophilic Disorders
Zemaira Eosinophilic Esophagitis Pilot Study (ZEEPS)
Regina Yearout - regina.yearout@cchmc.org
ALL
18 years to 70 years old
PHASE2
NCT05485155
Inclusion Criteria:
• Participant and/or legally authorized representative must be able to understand and provide informed consent prior to study procedures being performed.
• Willing and able to comply with study visits and activities
• Age ≥ 18 to ≤ 70 years at study enrollment
• Histologically active eosinophilic esophagitis (EoE) at time of screening or within 12 weeks prior to enrollment, with a peak count of ≥ 15 eosinophils (eos)/high powered field (hpf) in any region of the esophagus, with no other known cause for esophageal eosinophilia; involvement of eosinophilic inflammation in other gastrointestinal segments will be allowed but not required or sufficient.
• History of approximately 8 week standard of care (SOC) treatment (e.g., proton pump inhibitors (PPI's), topical corticosteroids) that did not adequately control or treat the EoE or documentation that such treatment was not tolerated. Participant may re-screen if this is not met.
• Stable medical management of EoE (and other eosinophilic disorders, if applicable) including stable dosage of medications in the 8 weeks prior to study enrollment, if applicable. Participants may be on baseline anti-EoE therapy (such as elimination diet, elemental diet, proton pump inhibitors (PPI), topical or systemic glucocorticoids (≤10 milligrams (mg) daily), immunosuppressive agents, cromolyn, and H1 and H2 anti-histamines) as long as there is agreement not to change their dosage.
• Willing to maintain current dietary regimen throughout the course of the study. Diet must have been stable for 8 weeks prior to baseline endoscopy.
Exclusion Criteria:
• Inability or unwillingness of a participant to give written informed consent or comply with study protocol.
• Current active H. pylori infection. A history of H. pylori infection needs to have medical documentation of one of the three acceptable eradication tests: antigen, breath or histology. Participants with current active H. pylori infections can be re-screened for study participation in the future if they are treated and have medical documentation of one of the three acceptable eradication tests: antigen, breath or histology.
• Another disorder that causes esophageal eosinophilia (e.g., hypereosinophilic syndrome\*, Churg Strauss vasculitis, eosinophilic granuloma or a parasitic infection). \*Hypereosinophilic syndrome defined by multiple organ involvement (with the exception of atopic disease or eosinophilic gastrointestinal disorder (EGID)) and persistent blood absolute eosinophil count ≥1500/microliter.
• Systemic gastrointestinal disorders such as Crohn's disease, inflammatory bowel disease, or Celiac disease not including chronic gastritis, chronic duodenitis, mucosal eosinophilia or other EGID's.
• Diagnosed with Chronic Obstructive Pulmonary Disease (COPD).
• Known immunoglobulin A (IgA) deficiency (i.e., IgA level \< 8 mg/dL at screening).
• Current coronavirus disease of 2019 (COVID-19) infection (i.e., detection of the presence of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) before the screening endoscopy using testing done at the clinical site).
• Hematological disorders that prevent the blood from clotting (e.g., hemophilia, Von Willebrand disease, clotting factor deficiencies).
• Currently on anti-coagulation medications (except aspirin/Non-steroidal anti-inflammatory drugs).
• Known history of hypersensitivity following infusions of human blood or blood components (e.g., human immunoglobulins or human albumin).
• Known history of hypersensitivity or anaphylaxis to Zemaira or other A1AT products.
• Uncontrolled, or poorly controlled, comorbid conditions including, but not limited to, cardiovascular diseases, hypertension and diabetes as defined by the following criteria: * A myocardial infarction within the last 6 months. * Blood pressure \> 179/99 mmHg * Diabetics with a hemoglobin A1C (HbA1C) \> 7% and that are deemed to have uncontrolled diabetes as defined by the physician
• History of cancer: Individuals who have had basal cell carcinoma, localized squamous cell carcinoma of the skin, or in situ carcinoma of the cervix are eligible provided that the participant is in remission and curative therapy was completed at least 12 months prior to the date informed consent was obtained. Individuals who have had other malignancies are eligible provided that the individual is in remission and curative therapy was completed at least 5 years prior to the date informed consent was obtained.
• Current or recent use of any investigational drug (within 3 months or 5 half-lives, whichever is longer, prior to screening).
• Currently participating or planning to participate in another clinical study involving an investigational drug during the course of this study.
• Presence of steroid-responsive diseases (e.g., asthma) with a recent (within the last 6 months) history of disease exacerbations requiring steroid treatment.
• Current use of systemic steroids with daily dose \> 10 mg for any reason or steroid burst for \> 3 days within 1 month of screening.
• Current pregnancy or breastfeeding.
• Any esophageal stricture unable to be passed with a standard, diagnostic upper endoscope.
• Esophageal varices or interventional treatment for esophageal varices that, in the opinion of the investigator, would put the participant at undue risk for significant complications from an endoscopy procedure.
• History of alcohol or drug abuse within 6 months prior to screening.
• Participant or his/her immediate family is a member of the investigational team.
• Presence of clinically significant laboratory abnormalities at the screening that meets one or more of the following criteria:
• Serum alanine aminotransferase (ALT) ≥ 3 times upper limit of normal (ULN)
• Serum total bilirubin ≥2 times ULN
• Absolute neutrophil count (ANC) ≤ 1000 cells/mm3
• Hemoglobin (Hgb) ≤ 10.0 g/dL
• Platelet count ≤ 100,000/mm3
• Glomerular Filtration Rate (GFR) ≤ 44 mL/min/1.73 m2
• Planned or anticipated major surgical procedure during the study.
• Known or suspected immunodeficiency disorder, including human immunodeficiency disorder (HIV) or a history of invasive opportunistic infections (e.g., tuberculosis, non-tuberculous mycobacterial infections, histoplasmosis, listeriosis, coccidioidomycosis, pneumocystosis, aspergillosis, or an infectious etiology of esophagitis (e.g. cytomegalovirus or Candida) despite infection resolution or otherwise recurrent infections of abnormal frequency or prolonged infections suggesting an immune-compromised status as judged by the investigator.
• Planned or anticipated use of any prohibited medications and procedures during the study.
• Currently on Zemaira for other indications.
• Initiation, discontinuation or change in the dosage regimen of the following medications within 8 weeks prior to the baseline endoscopy: Proton pump inhibitors Leukotriene inhibitors Nasal and/or inhaled corticosteroids Participants on a stable dose of these medications for at least 8 weeks prior to the baseline endoscopy may be included in the study. PPI and leukotriene inhibitor dosing must not change during the study, but nasal and/or inhaled corticosteroids can be increased if there is a deterioration in the condition for which the medications are prescribed.
• Presence of the following esophageal disorders: achalasia cardia, Barrett's esophagus or precancerous lesions noted on the endoscopy.
• Women of childbearing potential, or male participants with female partners of childbearing potential, who are unwilling to practice highly effective contraception prior to the initial dose/start of the first treatment, during the study, and for at least 12 weeks after the last dose. Highly effective contraceptive measures include:
• Stable use of combined (estrogen and progestogen containing) hormonal contraception (oral, intravaginal, transdermal) or progestogen-only hormonal contraception (oral, injectable, implantable) for one month prior to screening
• Intrauterine device; intrauterine hormone-releasing system
• Bilateral tubal ligation
• Vasectomized partner
• And/or sexual abstinence
• Past or current medical problems or findings from physical examination or laboratory testing that are not listed above, which, in the opinion of the investigator, may pose additional risks from participation in the study, may interfere with the participant's ability to comply with study requirements or that may impact the quality or interpretation of the data obtained from the study.
DRUG: Alpha-proteinase inhibitor
Eosinophilic Esophagitis
Sinus Disease in Young Children With Cystic Fibrosis
Megan Schmitt - megan.schmitt@cchmc.org
ALL
2 years to 8 years old
NCT06191640
Inclusion Criteria:
HEMT Group:
* Children with documentation of a CF diagnosis
* Age 2-8 years old at first study visit
* CFTR mutation consistent with FDA labeled indication of highly effective modulator therapy (ivacaftor or elexacaftor/tezacaftor/ivacaftor)
* Clinician intent to prescribe ivacaftor or ETI so that enrollment is before start of HEMT
Non-HEMT/Control Group:
* Children with documentation of a CF diagnosis
* Age 2-8 years at first study visit
* Ineligible for highly effective modulator therapy (ivacaftor or elexacaftor/tezacaftor/ivacaftor) based on CFTR mutation or clinical decision not to initiate HEMT if eligible
Exclusion Criteria:
For Both Groups:
* Use of an investigational drug within 28 days prior to the first study visit
* Use of ivacaftor or elexacaftor/tezacaftor/ivacaftor within the 180 days prior to and including the first study visit
* Use of chronic oral corticosteroids within the 28 days prior to and including the first study visit.
* Sinus surgery within 180 days prior to the first study visit DRUG: Ivacaftor or elexacaftor/tezacaftor/ivacaftor
Cystic Fibrosis in Children, Cystic Fibrosis, Chronic Rhinosinusitis (Diagnosis), Olfactory Disorder, Olfactory Impairment
Cystic Fibrosis, Chronic Rhinosinusitis, Olfactory Dysfunction
A Research Study of Abdominal Ultrasound (FAST) in Children With Blunt Torso Trauma (FAST)
Allison Ackermann - allison.ackermann@cchmc.org
ALL
Up to 17 years old
NA
NCT05910567
Children younger than 18 years of age (0 to 17.9999 years) with blunt abdominal trauma presenting to the participating EDs within 24 hours of the traumatic event will be eligible if the do not meet any exclusion criteria and meet any one of the following inclusion criteria.
• Blunt torso trauma resulting from a significant mechanism of injury: * Motor vehicle collision: greater than 60 mph, ejection, or rollover * Automobile versus pedestrian/bicycle: automobile speed \> 25 mph * Falls greater than 20 feet in height * Crush injury to the torso * Physical assault involving the abdomen
• Decreased level of consciousness (Glasgow Coma Scale (GCS) score 9-14 or below age-appropriate behavior) in association with blunt torso trauma
• Blunt traumatic event with any of the following (regardless of the mechanism): * Extremity paralysis * Multiple long bone fractures (e.g., tibia and humerus fracture)
• History and physical examination suggestive of blunt torso trauma of any mechanism (including mechanisms of injury of less severity than mentioned above)
• Age-adjusted low blood pressure (Hemodynamic instability) * Patients will be excluded for prehospital or initial age-adjusted ED low blood pressure. This is because the standard evaluation of these patients involves immediate FAST based on prior work by our group. Low blood pressure is determined based upon the patient's age, and will be defined as a systolic blood pressure less than 70 mm Hg for patients younger than 1 month, less than 80 mm Hg for ages 1 month to 5 years, and less than 90 mm Hg for ages over 5 years.
• Penetrating trauma: Patients who are victims of stab or gunshot wounds
• Traumatic injury occurring \> 24 hours prior to the time of presentation to the ED
• Transfer of the patient to the ED from an outside facility with abdominal CT scan, diagnostic peritoneal lavage, or laparotomy previously performed
• Transferred with FAST exam already performed at outside hospital
• Patients with known disease processes resulting in intraperitoneal fluid including liver failure and the presence of ventriculoperitoneal shunts
• Initial GCS score ≤ 8 as it is standard for children with GCS scores ≤ 8 to undergo abdominal CT if blunt abdominal trauma is suspected
• Known pregnancy
• Known prisoner
• Known intra-abdominal injury diagnosed within 30 days prior of this ED visit
Inclusion Criteria:
• Blunt torso trauma resulting from a significant mechanism of injury: * Motor vehicle collision: greater than 60 mph, ejection, or rollover * Automobile versus pedestrian/bicycle: automobile speed \> 25 mph * Falls greater than 20 feet in height * Crush injury to the torso * Physical assault involving the abdomen
• Decreased level of consciousness (Glasgow Coma Scale (GCS) score 9-14 or below age-appropriate behavior) in association with blunt torso trauma
• Blunt traumatic event with any of the following (regardless of the mechanism): * Extremity paralysis * Multiple long bone fractures (e.g., tibia and humerus fracture)
• History and physical examination suggestive of blunt torso trauma of any mechanism (including mechanisms of injury of less severity than mentioned above)
Exclusion Criteria:
The following patients will be excluded from the study:
• Age-adjusted low blood pressure (Hemodynamic instability) * Patients will be excluded for prehospital or initial age-adjusted ED low blood pressure. This is because the standard evaluation of these patients involves immediate FAST based on prior work by our group. Low blood pressure is determined based upon the patient's age, and will be defined as a systolic blood pressure less than 70 mm Hg for patients younger than 1 month, less than 80 mm Hg for ages 1 month to 5 years, and less than 90 mm Hg for ages over 5 years.
• Penetrating trauma: Patients who are victims of stab or gunshot wounds
• Traumatic injury occurring \> 24 hours prior to the time of presentation to the ED
• Transfer of the patient to the ED from an outside facility with abdominal CT scan, diagnostic peritoneal lavage, or laparotomy previously performed
• Transferred with FAST exam already performed at outside hospital
• Patients with known disease processes resulting in intraperitoneal fluid including liver failure and the presence of ventriculoperitoneal shunts
• Initial GCS score ≤ 8 as it is standard for children with GCS scores ≤ 8 to undergo abdominal CT if blunt abdominal trauma is suspected
• Known pregnancy
• Known prisoner
• Known intra-abdominal injury diagnosed within 30 days prior of this ED visit
DIAGNOSTIC_TEST: Focused Assessment with Sonography for Trauma (FAST) Examination, OTHER: No Intervention: Standard of Care - Without the FAST Examination
Blunt Trauma to Abdomen, Wounds and Injuries, Abdomen Injury, Abdominal Injury, Abdomen, Acute
Child, Wounds and Injuries, Blunt Trauma to Abdomen, Abdomen Injury, Blunt Abdominal Trauma
Tegavivint for the Treatment of Recurrent or Refractory Solid Tumors, Including Lymphomas and Desmoid Tumors
- cancer@cchmc.org
ALL
12 months to 30 years old
PHASE1
NCT04851119
Inclusion Criteria:
* PART A: Patients must be \>= 12 months and =\< 21 years of age at the time of study enrollment
* PART B: Patients must be \>= 12 months and =\< 30 years of age at the time of study enrollment
* Patients with recurrent or refractory solid tumors including non-Hodgkin lymphoma and desmoid tumors are eligible. Patients must have had histologic verification of malignancy at original diagnosis or relapse
* PART A: Patients with relapsed or refractory solid tumors, including patients with non-Hodgkin lymphoma and desmoid tumors
* PART B: Patients with recurrent or refractory Ewing sarcoma, desmoid tumors, osteosarcoma, liver tumors (HCC and hepatoblastoma), Wilms tumor, and tumors with Wnt pathway aberrations. For the Wnt pathway aberrations cohort we will include the most common CTNNB1 mutations (S37F, S45F, T41A, S45P, S33C, S37C, D32Y, S33F, T41I, G34R, G34V, D32N, S33P, G34E, D32G) as well as any loss of function mutations in the APC, Axin2FBXW7, TCF7L2, and RNF43 genes or any gain-of-function mutations in the GSK3B, LRP6, and LGR5 genes. For patients without prior sequencing, immunohistochemistry (IHC), is required. IHC showing strong nuclear beta-catenin staining will be accepted for the following tumor types: colorectal carcinoma, melanoma, endometrial cancer, ovarian cancer, neuroblastoma, non-Hodgkin lymphoma, pancreatic ductal adenocarcinoma, and solid pseudopapillary tumor of the pancreas
* PART A: Patients must have either measurable or evaluable disease. For desmoid tumors, the patient must have disease that the investigator deems unresectable or sufficiently morbid or potentially life-threatening that there is favorable risk/benefit to the patient to participate in the trial
* PART B: Patients must have measurable disease. For desmoid tumors, the patient must have measurable disease that the investigator deems unresectable or sufficiently morbid or potentially life-threatening that there is favorable risk/benefit to the patient to participate in the trial
* Patients must have a performance status corresponding to Eastern Cooperative Oncology Group (ECOG) scores of 0, 1 or 2. Use Karnofsky for patients \> 16 years of age and Lansky for patients =\< 16 years of age
* Patients must have fully recovered from the acute toxic effects of all prior anti-cancer therapy and must meet the following minimum duration from prior anti-cancer directed therapy prior to enrollment. If after the required timeframe, the numerical eligibility criteria are met, e.g., blood count criteria, the patient is considered to have recovered adequately.
* Cytotoxic chemotherapy or other anti-cancer agents known to be myelosuppressive
* Solid tumor patients: \>= 21 days after the last dose of myelosuppressive chemotherapy (42 days if prior nitrosourea)
* Non-Hodgkin lymphoma patients
* A waiting period prior to enrollment is not required for patients receiving standard maintenance chemotherapy (i.e., corticosteroid, vincristine, thioguanine \[6MP\], and/or methotrexate)
* \>= 14 days must have elapsed after the completion of other cytotoxic therapy, with the exception of hydroxyurea, for patients not receiving standard maintenance therapy
* NOTE: Cytoreduction with hydroxyurea must be discontinued \>= 24 hours prior to the start of protocol therapy
* Anti-cancer agents not known to be myelosuppressive (e.g., not associated with reduced platelet or absolute neutrophil counts \[ANC\]): \>= 7 days after the last dose of agent
* Antibodies: \>= 21 days must have elapsed from infusion of last dose of antibody, and toxicity related to prior antibody therapy must be recovered to grade =\< 1
* Corticosteroids: If used to modify immune adverse events related to prior therapy, \>= 14 days must have elapsed since last dose of corticosteroid
* Hematopoietic growth factors: \>= 14 days after the last dose of a long-acting growth factor (e.g., pegfilgrastim) or 7 days for short acting growth factor. For agents that have known adverse events occurring beyond 7 days after administration, this period must be extended beyond the time during which adverse events are known to occur
* Interleukins, interferons and cytokines (other than hematopoietic growth factors): \>= 21 days after the completion of interleukins, interferon or cytokines (other than hematopoietic growth factors)
* Stem cell Infusions (with or without total-body irradiation \[TBI\]):
* Allogeneic (non-autologous) bone marrow or stem cell transplant, or any stem cell infusion including donor lymphocyte infusion (DLI) or boost infusion: \>= 84 days after infusion and no evidence of graft versus host disease (GVHD)
* Autologous stem cell infusion including boost infusion: \>= 42 days.
* Cellular therapy: \>= 42 days after the completion of any type of cellular therapy (e.g., modified T cells, natural killer \[NK\] cells, dendritic cells, etc.).
* External beam radiation therapy (XRT)/external beam irradiation including protons: \>= 14 days after local XRT; \>= 150 days after TBI, craniospinal XRT or if radiation to \>= 50% of the pelvis; \>= 42 days if other substantial bone marrow (BM) radiation
* Radiopharmaceutical therapy (e.g., radiolabeled antibody, iobenguane I-131 \[131I MIBG\]): \>= 42 days after systemically administered radiopharmaceutical therapy
* Patients must not have received prior exposure to tegavivint
* PATIENTS WITH SOLID TUMORS WITHOUT KNOWN BONE MARROW INVOLVEMENT: Peripheral absolute neutrophil count (ANC) \>= 1000/uL (within 7 days prior to enrollment)
* PATIENTS WITH SOLID TUMORS WITHOUT KNOWN BONE MARROW INVOLVEMENT: Platelet count \>= 100,000/uL (transfusion independent, defined as not receiving platelet transfusions for at least 7 days prior to enrollment) (within 7 days prior to enrollment)
* PATIENTS WITH SOLID TUMORS WITHOUT KNOWN BONE MARROW INVOLVEMENT: Hemoglobin \>= 8.0 g/dL at baseline (may receive red blood cell \[RBC\] transfusions) (within 7 days prior to enrollment)
* Patients with known bone marrow metastatic disease will be eligible for study provided they meet blood counts (may receive transfusions provided they are not known to be refractory to red cell or platelet transfusions). These patients will not be evaluable for hematologic toxicity. At least 5 of every cohort of 6 patients must be evaluable for hematologic toxicity for the dose-escalation part of the study. If dose-limiting hematologic toxicity is observed, all subsequent patients enrolled on Part A must be evaluable for hematologic toxicity
* Creatinine clearance or radioisotope glomerular filtration rate (GFR) \>= 70 mL/min/1.73 m\^2 or a creatinine based on age/gender as follows (within 7 days prior to enrollment):
* Age; maximum serum creatinine
* Age 1 to \< 2 years; 0.6 mg/dL (male); 0.6 mg/dL (female)
* Age 2 to \< 6 years; 0.8 mg/dL (male); 0.8 mg/dL (female)
* Age 6 to \< 10 years; 1 mg/dL (male); 1 mg/dL (female)
* Age 10 to \< 13 years; 1.2 mg/dL (male); 1.2 mg/dL (female)
* Age 13 to \< 16 years; 1.5 mg/dL (male); 1.4 mg/dL (female)
* Age \>= 16 years; 1.7 mg/dL (male); 1.4 mg/dL (female)
* PATIENTS WITH SOLID TUMORS: Bilirubin (sum of conjugated + unconjugated or total) =\< 1.5 x upper limit of normal (ULN) for age (within 7 days prior to enrollment)
* PATIENTS WITH SOLID TUMORS: Serum glutamic pyruvic transaminase (SGPT) (alanine aminotransferase \[ALT\]) =\< 135 U/L. For the purpose of this study, the ULN for SGPT is 45 U/L (within 7 days prior to enrollment)
* PATIENTS WITH SOLID TUMORS: Albumin \>= 2 g/dL (within 7 days prior to enrollment)
Exclusion Criteria:
* Pregnant or breast-feeding women will not be entered on this study because there is yet no available information regarding human fetal or teratogenic toxicities. Pregnancy tests must be obtained in girls who are post-menarchal. Males or females of reproductive potential may not participate unless they have agreed to use two effective methods of birth control, including a medically accepted barrier or contraceptive method (e.g., male or female condom) for the duration of the study. Abstinence is an acceptable method of birth control
* Patients receiving corticosteroids who have not been on a stable or decreasing dose of corticosteroid for at least 7 days prior to enrollment are not eligible. If used to modify immune adverse events related to prior therapy, \>= 14 days must have elapsed since last dose of corticosteroid
* Patients who are currently receiving another investigational drug are not eligible
* Patients who are currently receiving other anti-cancer agents are not eligible
* Patients who are receiving cyclosporine, tacrolimus or other agents to prevent graft-versus-host disease post bone marrow transplant are not eligible for this trial
* Patients who are currently receiving drugs that are strong inducers or inhibitors of CYP3A4 are not eligible. Strong inducers or inhibitors of CYP3A4 should be avoided from 14 days prior to the 1st dose of tegavivint to the end of the study
* Patients who have received bisphosphonates within 4 weeks prior to study enrollment will be excluded
* Patients who have received denosumab within 180 days prior to study enrollment will be excluded
* Patients with primary brain tumors are ineligible
* Patients with known central nervous system (CNS) metastasis, except for craniopharyngeal tumors, will be excluded
* Patients with a known metabolic bone disease (ex: hyperparathyroidism, Paget's disease, osteomalacia) are not eligible
* Patients with a disorder associated with abnormal bone metabolism will be excluded
* Patients with grade \>= 2 hypocalcemia that is not corrected with oral calcium supplementation will be excluded
* Patients with vitamin D \< 20 ng/mL will require supplementation, or will otherwise be excluded. Patients must agree to take vitamin D +/- calcium supplements (if necessary) according to institutional or published guidelines. Additional calcium supplementation is not required if adequate dietary intake can be ascertained
* Patients with pre-existing grade 3 osteoporosis are excluded
* Patients who have an uncontrolled infection are not eligible
* Patients who have received a prior solid organ transplantation are not eligible
* Patients who in the opinion of the investigator may not be able to comply with the safety monitoring requirements of the study are not eligible PROCEDURE: Biospecimen Collection, PROCEDURE: Dual X-ray Absorptiometry, DRUG: Tegavivint, PROCEDURE: X-Ray Imaging
Colorectal Carcinoma, Endometrial Carcinoma, Melanoma, Neuroblastoma, Ovarian Carcinoma, Pancreatic Ductal Adenocarcinoma, Recurrent Desmoid Fibromatosis, Recurrent Ewing Sarcoma, Recurrent Hepatoblastoma, Recurrent Hepatocellular Carcinoma, Recurrent Malignant Solid Neoplasm, Recurrent Non-Hodgkin Lymphoma, Recurrent Osteosarcoma, Refractory Desmoid Fibromatosis, Refractory Ewing Sarcoma, Refractory Hepatoblastoma, Refractory Hepatocellular Carcinoma, Refractory Malignant Solid Neoplasm, Refractory Non-Hodgkin Lymphoma, Refractory Osteosarcoma, Solid Pseudopapillary Neoplasm of the Pancreas, Wilms Tumor
Bowel Continence Across the Lifespan in People With Spina Bifida (BCALS)
Cassie Hulme - cassie.hulme@cchmc.org
ALL
5 years and over
NCT07390318
Inclusion Criteria:
* Minimum age 5 years old
* Myelomeningocele diagnosis
* Starting a retrograde or antegrade enema program (or switching from one enema program to the other)
* English or Spanish speaking/literate
Exclusion Criteria:
\- Other types of spinal dysraphism (e.g., lipomyelomeningocele, fatty filum) PROCEDURE: Retrograde Enema, PROCEDURE: Antegrade Enema
Spina Bifida, Neurogenic Bowel, Bowel Incontinence
retrograde enema, antegrade enema, bowel management program, bowel continence program, self-management, quality of life
OMEGA: Outcome Measures in Eosinophilic Gastrointestinal Disorders Across the Ages (OMEGA)
Bliss Magella - bliss.magella@cchmc.org
ALL
3 years and over
NCT02523118
Inclusion Criteria:
* Males or females 3 years of age and older
* Mucosal eosinophilia:
EoE ≥ 15 eosinophils/HPF in the distal or proximal esophagus EoG ≥ 30 eosinophils/HPF in 5 HPF\'s in the body and/or antrum EoN ≥ 53 eosinophils/HPF in the duodenum and/or ≥ 56 eosinophils/HPF in the jejunum and/or ileum EoC ≥ 84 eosinophils/HPF from the transverse or descending colon and/or ≥ 32 eosinophils/HPF from the rectosigmoid colon or a biopsy from any colonic location with ≥ 100 eosinophils/HPF
\- Presence of symptoms is required for patients who are newly diagnosed but not required for patients who were previously diagnosed.
Exclusion Criteria:
* History of intestinal surgery other than G tube placement
* Enrolled in a blinded investigational study at the time of the first study visit
* Have esophageal stricture (\<3mm)
* Have other identifiable causes for eosinophilia (except Inflammatory Bowel Disease): infections, Gastrointestinal (GI) cancer, other GI inflammatory disease (e.g., Ulcerative Colitis or Crohn\'s Disease) Eosinophilic Gastrointestinal Disorders (EGIDs), Eosinophilic Esophagitis, Eosinophilic Gastritis, Eosinophilic Gastroenteritis, Eosinophilic Colitis
Testing Drug Efficacy in Cystic Fibrosis Through N-of-1 Trials (Nof1)
Sharon Kadon - sharon.kadon@cchmc.org
ALL
6 years and over
NA
NCT04580368
Inclusion Criteria:
* Signed informed consent (and assent when applicable)
* Willing and able to adhere to the study visit schedule and protocol requirements
* Male or Female ≥6 years old and within the FDA-approved range for the proposed modulator drug
* Ivacaftor: ≥4 months old
* Lumacaftor/Ivacaftor: 2 years old
* Tezacaftor/Ivacaftor: 12 years old
* Elexacaftor/Tezacaftor/Ivacaftor: ≥12 years old
* At least one rare CFTR variant (incidence of \<5% of the CF population)
* Documentation of a CF diagnosis as evidenced by one or more clinical features of CF plus at least one of the following:
* Sweat Chloride ≥60mmol/L by quantitative pilocarpine iontophoresis
* Two mutations in the CFTR gene
* Abnormal nasal potential difference (NPD) testing supportive of a CF diagnosis
* FEV1 \> 50% predicted for age
* Stable chronic CF therapies with no changes in \>28 days (except for chronic cycled inhaled antibiotics such as tobramycin)
* Prescribed CFTR modulator by a licensed physician
* No contraindication to treatment with the selected drug at the time of treatment initiation
Exclusion Criteria:
* Presence of any condition or abnormality that, in the opinion of the Investigator, would compromise the safety of the patient and/or quality of the data
* For women of child bearing potential:
* Positive pregnancy test or known pregnancy at Visit 1
* Lactating
* Unwilling to practice a medically acceptable form of contraception (acceptable forms include abstinence, hormonal birth control, intrauterine device, or barrier method plus a spermicidal agent), unless surgically sterilized or postmenopausal during the study
* BMI \< 10th percentile for age (if \<18 years old) or \< 20kg/m2 (if ≥18 years old)
* FEV1 ≤ 50% predicted for age
* Growth of CF pathogens from sputum cultures that are associated with unstable disease (e.g., nontuberculous mycobacteria, Burkholderia spp) within six months of enrollment
* Concomitant use of CYP3A inducers or inhibitors (e.g., voriconazole, fluconazole, rifampin) or prednisone (\>20mg daily)
* Concomitant conditions:
* Poorly controlled diabetes mellitus (HbA1c \>8.5 or glucosuria as noted below)
* Advanced CF liver disease (cirrhosis with portal hypertension, ascites, or abnormal liver laboratory testing as noted below)
* End stage renal disease
* History of organ transplantation
* Additional medical conditions that in the opinion of the Investigator place the patient at risk of participation or may impact the patient's ability to complete the trial (e.g., uncontrolled depression, anxiety disorder, poor adherence to CF therapies, active ABPA)
* Any of the following abnormal laboratory values at the Screening Visit:
* CBC
* WBC \>15,000 K/mcL or ANC \<1,500 K/mcL
* Hemoglobin \<10 gm/dL
* Platelets \<50,000 K/mcL
* Chemistries
* \>2+ Glucosuria
* Clinically significant abnormalities as assessed by the Investigator
* Glomerular filtration rate ≤50 mL/min/1.73 m2 (calculated by the Counahan-Barratt equation)
* Hepatic Function Testing / Coagulation Testing
* ≥3 × upper limit of normal (ULN) aspartate aminotransferase (AST)
* ≥3 × ULN alanine aminotransferase (ALT)
* ≥3 × ULN gamma-glutamyl transpeptidase
* Total or direct bilirubin \>2 × ULN
* INR \> 1.5 x ULN
* Positive pregnancy test DRUG: CFTR Modulators
Cystic Fibrosis
CFTR modulators, cystic fibrosis, HNE, human nasal epithelial cells, NPD, nasal potential difference, air-liquid interface, N-of-1
Primary Sclerosing Cholangitis in Children
Erin Chapman - erin.chapman@cchmc.org
ALL
2 years to 25 years old
NCT04181138
Inclusion Criteria:
Patients with the clinical diagnosis of large or small duct PSC made at any time prior to enrollment are screened for eligibility to participate in this prospective cohort study. The site PI will determine eligibility following review of MRCP or ERCP images with the site radiologist to confirm presence of an abnormal cholangiogram at the time of diagnosis of large duct PSC. Liver histopathology obtained at the time of diagnosis of small duct PSC will be reviewed with the site pathologist prior to enrollment.
Individuals must meet all of the Inclusion criteria in order to be eligible to participate in the study:
• Aged 2 through 25 years at time of screening.
• Diagnosis of large duct PSC based on review of cholangiogram by MRC, ERC, or intraoperative cholangiogram (IOC) by the site radiologist and interpreted to be consistent with PSC, based on one or more of the following: * Focal structuring of the bile duct(s) * Dominant stricture of the common bile duct * Saccular dilatation of bile duct(s) * Beaded appearance of bile duct(s) * Pruning appearance of the distal bile duct branches AND/OR
• Diagnosis of small duct PSC based on review of liver histopathology by the site pathologist and interpreted to be compatible with PSC: * Probable small duct PSC: biopsy with ≥3 of 5 criteria: periductal edema, concentric inflammation, bile duct injury, ductular reaction, and neutrophils in bile ducts (cholangitis) OR... * Definitive small duct PSC: Periductal fibrosis/ "onion skinning" around interlobular bile ducts or smaller profiles
• Stated willingness to comply with all study procedures and availability for the duration of the study.
• Able to provide informed consent/assent Participants for the imaging study are eligible if they are:
• Aged 8 through 25 years at the time of screening
• No absolute contraindication to MRI
• No skin condition that could be aggravated by MREL
• Meet all other eligibility criteria of the PSC Observational Study
• For whom none of the exclusion criteria apply
Exclusion Criteria:
An individual who meets any of the following criteria at baseline will be excluded from participation in this study.
• History of liver transplantation
• History bone marrow transplantation
• History of primary or acquired immunodeficiency predisposing to secondary sclerosing cholangitis, for instance: hyper-IgM syndrome, severe combined immunodeficiency (SCID) syndrome, common variable immunodeficiency (CVID) syndrome, cartilage hair hypoplasia syndrome, or HIV/AIDS
• History of histiocytosis, including Langerhans cell histiocytosis (LCH), or hemophagocytic lymphohistiocytosis (HLH)
• History of ischemic cholangitis
• History of portal vein thrombosis with biliopathy, veno-occlusive disease, or abdominal radiation vasculopathy
• History of recurrent pyogenic cholangitis
• History of biliary tract surgery for cholecystolithiasis prior to cholangiogram/liver biopsy evaluated to determine enrollment
• History of biliary tract surgery for choledochal cyst
• History of hepatocellular carcinoma, or hepatoblastoma
• History of surgical biliary trauma
• History of congenital cytomegalovirus (CMV) hepatitis
• History of Sickle Cell Disease
• History of cystic fibrosis, biliary atresia, Caroli disease/congenital hepatic fibrosis, or progressive familial intrahepatic cholestasis type 3/MDR3 disease
• History of cardiac hepatopathy.
• History of metabolic disorders, including Wilson's disease, glycogen storage disorder, Alpha-1 Antitrypsin deficiency
• Diagnosis of systemic lupus erythematosus (SLE)
• Concurrent pregnancy at the time of enrollment -
Primary Sclerosing Cholangitis, Liver Diseases, Cholangitis, Sclerosing
Pediatric Liver Disease, Primary Sclerosing Cholangitis
Impact of Soymilk on Liver Disease Severity of Children With Non-alcoholic Fatty Liver Disease (NAFLD)
Ann Popelar - Ann.Popelar@cchmc.org
ALL
5 years to 12 years old
PHASE2
NCT06133101
Inclusion Criteria:
* Children with overweight/obesity
* Non-alcoholic fatty liver disease (NAFLD) and an MRI PDFF \>10%
* Known NAFLD or elevated ALT for sex (\>22 for females and \>26 for males)
Exclusion Criteria:
* MRI-PDFF \<10%
* Baseline habitual (\>3 days per week) consumption of soy foods
* Allergy to soy or cow's milk protein
* Inability to undergo MRI
* Recent (past 8 weeks) antibiotic exposure
* Treatment for existing endocrine disorders DRUG: Standard Soy Milk, DRUG: 2% Fat Cow's Milk
Non-Alcoholic Fatty Liver Disease
NAFLD
MRI Biomarkers in as Predictor of Clinical Endpoints in Pediatric Autoimmune Liver Disease
Alexander Miethke, MD - alexander.miethke@cchmc.org
ALL
6 years to 23 years old
NCT03178630
Inclusion Criteria:
• Age 6-23 years old.
• Established clinical diagnosis of AIH or PSC.
Exclusion Criteria:
• History of liver transplantation.
• Chronic Hepatitis B or untreated hepatitis C virus infection.
• Pregnancy.
• Absolute contraindication for MRI (e.g. pacemaker, metallic implants, claustrophobia).
• Diagnosis of cystic fibrosis or biliary atresia
• Diagnosis of cardiac hepatopathy.
• Diagnosis of Wilson's disease, Alpha-1 Antitrypsin deficiency, or Glycogen storage disease.
• Skin conditions which could be aggravated by MREL (i.e. Epidermolysis bullosa).
Autoimmune Liver Disease, Autoimmune Hepatitis, Primary Sclerosing Cholangitis
Follow-up Automatically vs. As-Needed Comparison (FAAN-C) Trial (FAAN-C)
Holly Flake - Holly.Flake@cchmc.org
ALL
Up to 18 years old
NA
NCT05471908
Inclusion Criteria:
* Age \<18 years at the time of randomization
* Hospitalization due to a primary diagnosis of pneumonia, skin and soft tissue infection, acute gastroenteritis, or urinary tract infection.
* Parent speaks English or Spanish.
Exclusion Criteria:
* Presence of a comorbid disease that is both chronic and complex
* Principal disease required surgical intervention (beyond superficial incision and drainage)
* Immunodeficiency
* A well-child check-up or post-hospitalization follow-up visit is already scheduled within 7 days of hospital discharge
* Parent or participant strongly prefers PRN or automatic follow-up
* A medical provider feels strongly that a post-hospitalization follow-up visit is needed within 7 days of hospital discharge
* Sibling concurrently hospitalized
* Unable to identify a clinic where the participant would receive any needed post-hospitalization follow-up
* Diagnosis of pneumonia complicated by:
o Receiving a chest tube
* Diagnosis of urinary tract infection complicated by:
* History of neurogenic bladder or urologic surgery
* Renal imaging anticipated within 7 days of hospital discharge
* Renal abscess
* Diagnosis of skin and soft tissue infection complicated by:
* Chronic wound
* Postoperative infection
* Predisposition to poor wound healing
* Discharging with a drain in place
* Complicated by necrotizing fasciitis or toxic shock syndrome
* Diagnosis of gastroenteritis complicated by:
* Hemolytic uremic syndrome BEHAVIORAL: As-needed follow up, BEHAVIORAL: Automatic follow-up
Pneumonia, Urinary Tract Infections, Soft Tissue Infections, Gastroenteritis
post-hospitalization, follow-up care, patient centered care, randomized control trial
A Gaucher Disease Gene Therapy Trial With FLT201 (GALILEO-3)
Laurie Bailey - laurie.bailey@cchmc.org
ALL
18 years and over
PHASE3
NCT07223944
Key
Inclusion Criteria:
* Aged ≥18 years at time of screening.
* Clinical diagnosis of Gaucher disease type 1
* Stable hemoglobin concentration at baseline
* Stable platelet count at baseline
* Receiving ERT or SRT without interruption for at least 2 years
Key Exclusion Criteria:
* Diagnosed or suspected Gaucher disease type 2 or type 3
* Positive for AAVS3 neutralizing antibodies.
* Abnormal lab values, conditions or diseases that would make the participant unsuitable for the study
* Positive pregnancy test or lactating
* History of hematopoietic stem cell transplant (HSCT)/bone marrow transplant or any solid organ transplant.
* History of receiving any gene therapy or cell therapy.
* History of total splenectomy. Note: Additional protocol defined Inclusion and Exclusion criteria apply GENETIC: FLT201
Gaucher Disease Type 1
BSGM to Evaluate Patients With GI Symptoms
Khalil El-Chammas, MD - Khalil.El-Chammas@cchmc.org
ALL
8 years to 25 years old
NCT05880199
Inclusion Criteria for Cases
• Males or females age 8 to 25 years.
• Females ≥11 years of age or who have reached menarche must have a negative urine pregnancy test.
• Confirmed diagnosis of a Functional Gastrointestinal and/or Motility Disorder OR undergoing one of the following procedures as part of their clinical care at one of the participating centers:
• HRVB
• PENFS
• ADM
• Colonic Manometry
• Pyloric Botox
• Pyloric Dilation
• Gastric Scintigraphy
• GES
• gammaCore
• Those with a body mass index of \< 35.
• Parental/guardian permission (informed consent) and if appropriate, child assent. Exclusion Criteria for Cases
• History of skin allergies or a history of extreme sensitivity to cosmetics or lotions. Currently open wounds, abrasions, infected or inflamed abdominal skin. (Please note, majority of feeding tubes can be accommodated by the array placement.)
• Pregnant women.
• Those with any condition, where fasting is not recommended by a physician.
• Any allergies to foods that may be present in the standardized meal that cannot be accommodated with an acceptable substitute meal.
• Those with physical limitations, who are not able to maintain a relaxed reclined position for the study visit duration.
• Those with major developmental delay or cognitive impairment, who are not able to report their symptoms/feelings in the questionnaires.
• Those with GI motility disorders that are limited in the esophagus, and the gastric mapping is restricted to capture relevant data based on the investigator's discretion.
• Parents/guardians or subjects who, in the opinion of the Investigator, may be non-compliant with study schedules or procedures. Inclusion Criteria for Controls
• Males or females age 8 to 25 years.
• Females ≥11 years of age or who have reached menarche must have a negative urine pregnancy test.
• Do not have an active Functional Gastrointestinal disorder (FGID) diagnosis and will not be undergoing any procedures outlined in the recruitment plan in the near future.
• Those with a body mass index of \< 35.
• Individuals may include siblings of those with FGIDs.
• Parental/guardian permission (informed consent) and if appropriate, child assent. Exclusion Criteria for Controls
• History of skin allergies or a history of extreme sensitivity to cosmetics or lotions. Currently open wounds, abrasions, infected or inflamed abdominal skin.
• Pregnant women.
• Those with any condition, where fasting is not recommended by a physician.
• Allergies to foods that may be included in the standardized meal that cannot be accommodated with an acceptable substitute meal.
• Those with physical limitations, who are not able to maintain a relaxed reclined position for the study duration.
• Those with major developmental delay or cognitive impairment, who are not able to report their symptoms/feelings in the questionnaires.
• Those with GI motility disorders that are limited in the esophagus, and the gastric mapping is restricted to capture relevant data based on the investigator's discretion.
• Parents/guardians or subjects who, in the opinion of the Investigator, may be non-compliant with study schedules or procedures.
• Males or females age 8 to 25 years.
• Females ≥11 years of age or who have reached menarche must have a negative urine pregnancy test.
• Confirmed diagnosis of a Functional Gastrointestinal and/or Motility Disorder OR undergoing one of the following procedures as part of their clinical care at one of the participating centers:
• HRVB
• PENFS
• ADM
• Colonic Manometry
• Pyloric Botox
• Pyloric Dilation
• Gastric Scintigraphy
• GES
• gammaCore
• Those with a body mass index of \< 35.
• Parental/guardian permission (informed consent) and if appropriate, child assent. Exclusion Criteria for Cases
• History of skin allergies or a history of extreme sensitivity to cosmetics or lotions. Currently open wounds, abrasions, infected or inflamed abdominal skin. (Please note, majority of feeding tubes can be accommodated by the array placement.)
• Pregnant women.
• Those with any condition, where fasting is not recommended by a physician.
• Any allergies to foods that may be present in the standardized meal that cannot be accommodated with an acceptable substitute meal.
• Those with physical limitations, who are not able to maintain a relaxed reclined position for the study visit duration.
• Those with major developmental delay or cognitive impairment, who are not able to report their symptoms/feelings in the questionnaires.
• Those with GI motility disorders that are limited in the esophagus, and the gastric mapping is restricted to capture relevant data based on the investigator's discretion.
• Parents/guardians or subjects who, in the opinion of the Investigator, may be non-compliant with study schedules or procedures. Inclusion Criteria for Controls
• Males or females age 8 to 25 years.
• Females ≥11 years of age or who have reached menarche must have a negative urine pregnancy test.
• Do not have an active Functional Gastrointestinal disorder (FGID) diagnosis and will not be undergoing any procedures outlined in the recruitment plan in the near future.
• Those with a body mass index of \< 35.
• Individuals may include siblings of those with FGIDs.
• Parental/guardian permission (informed consent) and if appropriate, child assent. Exclusion Criteria for Controls
• History of skin allergies or a history of extreme sensitivity to cosmetics or lotions. Currently open wounds, abrasions, infected or inflamed abdominal skin.
• Pregnant women.
• Those with any condition, where fasting is not recommended by a physician.
• Allergies to foods that may be included in the standardized meal that cannot be accommodated with an acceptable substitute meal.
• Those with physical limitations, who are not able to maintain a relaxed reclined position for the study duration.
• Those with major developmental delay or cognitive impairment, who are not able to report their symptoms/feelings in the questionnaires.
• Those with GI motility disorders that are limited in the esophagus, and the gastric mapping is restricted to capture relevant data based on the investigator's discretion.
• Parents/guardians or subjects who, in the opinion of the Investigator, may be non-compliant with study schedules or procedures.
DEVICE: Body surface gastric mapping device
Gastrointestinal Motility Disorders in Children, Functional Gastrointestinal Disorders, Gastroparesis, Dyspepsia and Other Specified Disorders of Function of Stomach
GI motility, gastroparesis, functional dyspepsia
A Research Study to Advance the CF Therapeutics Pipeline for People Without Modulators
Kelly Thornton - Kelly.Thornton@cchmc.org
ALL
12 years and over
NCT06504589
Consent
A. Written informed consent (and assent when applicable) obtained from participant or participant's legal guardian
B. Is willing and able to adhere to the study visit schedule and other protocol requirements
Demographics
A. ≥ 12 years of age at Visit 1
Medical History
A. For persons of child-bearing potential: must not be pregnant at Visit 1 or plan to get pregnant during the 12-month study period
Disease History
A. Documentation of a CF diagnosis as evidenced by one or more clinical features consistent with the CF phenotype and one or more of the following criteria:
* Sweat chloride ≥ 60 mEq/liter by quantitative pilocarpine iontophoresis test (QPIT)
* Two well-characterized disease-causing pathogenic variants in the CFTR gene
or
* One well-characterized disease-causing mutation and a second CFTR variant (with variable or uncharacterized disease-causing potential) and sweat ≥ 30 mmol/liter with permission of the study sponsor-investigators
B. Clinically stable with no significant changes in health status within the 28 days prior to and including Visit 1
C. Does not have a history of lung transplantation
Concomitant Medications
A. Not genetically eligible for a CFTR modulator according to product label indications and/or No use of CFTR modulator for 28 days prior to Visit 1 with no intent to start or restart during the study period
B. No use of an investigational drug within 90 days prior to and including Visit 1
C. Not currently participating in an interventional drug or device trial. Participation in long-term safety follow-up studies (without redosing) and/or behavioral intervention trials is allowed.
D. No initiation of new chronic therapy (e.g., ibuprofen, azithromycin, inhaled tobramycin, Cayston®) within 28 days prior to and including Visit 1
E. No acute use of antibiotics (oral, inhaled or IV) or acute use of systemic corticosteroids for respiratory tract symptoms within 28 days prior to and including Visit 1
Cystic Fibrosis
ineligible and/or not taking CFTR modulators, People with CF
A Long-term Extension (LTE) Study of Guselkumab in Pediatric Participants (TRILOGY)
Megan Megan Quinlan-Waters - Megan.Quinlan-Waters@cchmc.org
ALL
3 years and over
PHASE3
NCT06663332
Inclusion Criteria:
* Must have completed the dosing planned in the primary pediatric guselkumab study
* Must have received benefit from continued guselkumab therapy in the opinion of the investigator
* Before enrollment, a participant must be either: (a) Not of childbearing potential, OR (b) Of childbearing potential and not sexually active, practicing abstinence or a highly effective method of contraception and agrees to remain on a highly effective method while receiving study intervention and until 12 weeks after the last dose - the end of relevant systemic exposure
* Parent(s) (or their legally acceptable representative) must sign an informed consent form (ICF) indicating that he or she understands the purpose of, and procedures required for, the study and is willing to allow the child to participate in the study. Assent is required from participants who are capable of understanding the nature of the study, typically those aged 7 years and older, to ensure their willingness to participate. An adolescent who provides assent will have the opportunity to sign an adult ICF upon reaching the age of majority, thereby affirming their understanding of the study's purpose and procedures, as well as their willingness to participate.
Exclusion Criteria:
* Participant is greater than or equal to (\>=) 18 years of age and resides in a country where 2 years have elapsed post marketing authorization for the respective adult indication
* Participant is \<18 years of age and resides in a county where 2 years have elapsed post marketing authorization for the respective pediatric indication
* Are pregnant, nursing, or planning pregnancy or fathering a child
* Have taken any disallowed therapies before the planned first long-term extension (LTE) dose of study intervention
* Employee of the investigator or study site, with direct involvement in the proposed study or other studies under the direction of that investigator or study site, as well as family members of the employees or the investigator
* Any condition for which, in the opinion of the investigator, participation would not be in the best interest of the participant or that could prevent, limit, or confound the protocol-specified assessments DRUG: Guselkumab
Crohns Disease, Colitis, Ulcerative, Arthritis, Psoriatic, Arthritis, Juvenile