StudyFinder

Search Results Within Category "Genetics"

Here are the studies that match your search criteria. If you are interested in participating, please reach out to the contact listed for the study. If no contact is listed, contact us and we'll help you find the right person.

25 Study Matches

Rett Syndrome Registry (RSR)

The Rett Syndrome Registry is a longitudinal observational study of individuals with MECP2 mutations and a diagnosis of Rett syndrome. Designed together with the IRSF Rett Syndrome Center of Excellence Network medical directors, this study collects data on the signs and symptoms of Rett syndrome as reported by the Rett syndrome experts and by the caregivers of individuals with Rett syndrome. This study will be used to develop consensus based guidelines for the care of your loved ones with Rett syndrome and to facilitate the development of better clinical trials and other aspects of the drug development path for Rett syndrome.

Andrea Gonnella - Andrea.Gonnella@cchmc.org

ALL
0 years to 99 years old
This study is NOT accepting healthy volunteers
NCT05432349
Show full eligibility criteria
Hide eligibility criteria
Inclusion Criteria:
* Male or female with a pathologic loss of function alteration of MECP2
Exclusion Criteria:
* Male or female with a gain of function alteration of MECP2, including those with MEPC2 duplication or triplication
Rett Syndrome, Rett Syndrome, Atypical, Genetic Disease, Genetic Diseases, X-Linked, Intellectual Disability, Neurobehavioral Manifestations, Neurologic Manifestations, Neurologic Disorder, Neurodevelopmental Disorders, Nervous System Diseases
Rett syndrome, MECP2, Neurodevelopmental disorder, Registry, Natural History Study
I'm interested
Share via email
See this study on ClinicalTrials.gov

Prospective Research Rare Kidney Stones (ProRKS) (ProRKS)

The purpose of this study is to determine the natural history of the hereditary forms of nephrolithiasis and chronic kidney disease (CKD), primary hyperoxaluria (PH), cystinuria, Dent disease and adenine phosphoribosyltransferase deficiency (APRTd) and acquired enteric hyperoxaluria (EH). The investigator will measure blood and urinary markers of inflammation and determine relationship to the disease course. Cross-comparisons among the disorders will allow us to better evaluate mechanisms of renal dysfunction in these disorders.

Prasad Devarajan - prasad.devarajan@cchmc.org

ALL
This study is NOT accepting healthy volunteers
NCT02780297
Show full eligibility criteria
Hide eligibility criteria
Inclusion Criteria:

• Diagnosis of primary hyperoxaluria
• Diagnosis of enteric hyperoxaluria
• Diagnosis of Dent Disease
• Diagnosis of Cystinuria
• Diagnosis of adenine phosphoribosyltransferase deficiency (APRTd)
• Diagnosis of Lowe Syndrome
• Diagnosis of Dent Disease Carrier
Exclusion Criteria:

• Prior renal failure
• History of liver and/or kidney transplant.
Hyperoxaluria, Cystinuria, Dent Disease, Lowe Syndrome, Adenine Phosphoribosyltransferase Deficiency
primary hyperoxaluria, Dent Disease, enteric hyperoxaluria, cystinuria, Lowe Syndrome, Adenine phosphoribosyltransferase deficiency, PH, APRTd, APRT, hyperoxaluria, oxalate, oxalosis, PH type 1, PH type 2, PH type 3, Dents, Dent, Dent 1, Dent 2, APRT deficiency
I'm interested
Share via email
See this study on ClinicalTrials.gov

A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents With Fabry Disease (FLY)

A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents with Fabry Disease.

Jenel Facey - jenel.facey@cchmc.org

ALL
2 years to 17 years old
PHASE2
This study is NOT accepting healthy volunteers
NCT06328608
Show full eligibility criteria
Hide eligibility criteria
Inclusion Criteria:
* Participants with the provision of informed consent from their legal guardians * Boys and girls aged 2 to 7 years (Cohort A), 8 to 12 years (Cohort B), or 13 to \<18 years (Cohort C). * Confirmed diagnosis of Fabry disease * Presence of at least one of the following characteristic features of Fabry disease: neuropathic pain, cornea verticillata, and/or clustered angiokeratoma. * History of Fabry pain: Fabry crises OR chronic pain. * Clinical condition that, in the investigator's opinion, requires ERT treatment.
Exclusion Criteria:
All Subjects: * Estimated glomerular filtration rate (eGFR) at screening \< 80 mL/min/1.73 m2. * History of type I hypersensitivity reactions (anaphylactic or anaphylactoid life-threatening reaction) to other ERT treatment for Fabry disease or any component of the study drug. * Initiation of treatment with an angiotensin-converting enzyme inhibitor (ACEi) or angiotensin II receptor blocker (ARB) or a dose change in ongoing treatment in the four weeks before screening. * Urine protein to creatinine ratio (UPCR) \> 0.5 g/g (0.5 mg/mg or 500 mg/g) if not treated with an ACE inhibitor or ARB. * Currently taking another investigational drug for any condition. * History of acute kidney injury in the 12 months before screening, including specific kidney diseases (e.g., acute interstitial nephritis, acute glomerular and vasculitic renal diseases); non-specific conditions (e.g., ischaemia, toxic injury); or extrarenal pathology (e.g., prerenal azotaemia, acute postrenal obstructive nephropathy). * History of renal dialysis or kidney transplantation. * History of or current malignancy requiring treatment. * Severe cardiomyopathy or significant unstable cardiac disease within six months before screening. * A positive test for Severe Acute Respiratory Syndrome-Coronavirus 2 (SARS-CoV-2) within three months before screening. * Presence of any medical, emotional, behavioural, or psychological condition that, in the Investigator's judgement, could interfere with the subject's compliance with the requirements of the study. Additional Exclusion Criteria for Subjects Enrolled in Stage I: * Female * Non-classic form of Fabry disease * Receipt of treatment for Fabry disease within six months before screening * Positive for anti-PRX-102 antibodies at screening Additional Exclusion Criteria for Subjects in Stage II (i.e., non-treatment naïve males or females): * Unwilling to discontinue current ERT treatment for Fabry disease before baseline. * Females: Pregnant or lactating, or of childbearing potential with a fertile male partner and unwilling to use a highly reliable method of contraception from the informed consent signature until 30 days after the last infusion.
DRUG: PRX-102 1 mg/kg every two weeks
Fabry Disease
I'm interested
Share via email
See this study on ClinicalTrials.gov

RASopathy Biorepository

The RASopathies are a group of developmental disorders caused by genetic changes in the genes that compose the Ras/mitogen activated protein kinase (MAPK) pathway. New RASopathies are being diagnosed frequently. This pathway is essential in the regulation of the cell cycle and the determination of cell function. Thus, appropriate function of this pathway is critical to normal development. Each syndrome in this group of disorders has unique phenotypic features, but there are many overlapping features including facial features, heart defects, cutaneous abnormalities, cognitive delays, and a predisposition to malignancies. This research study proposes to collect and store human bio-specimens from patients with suspected or diagnosed RASopathies. Once obtained, blood and/or tissue samples will be processed for: metabolic function studies, biomarkers, genetic studies, and/or the establishment of immortalized cell lines. In addition, data from the medical record (including neuropsychological evaluations) and surveys will be stored to create a longitudinal database for research conducted at CCHMC or at other research institutions.

Lindsey Aschbacher-Smith - lindsey.aschbacher-smith@cchmc.org

ALL
This study is also accepting healthy volunteers
NCT04395495
Show full eligibility criteria
Hide eligibility criteria
Inclusion Criteria:
* Patients with a suspected or known diagnosis of any of the group of disorders known as RASopathies (e.g., Neurofibromatosis, Costello Syndrome, Noonan Syndrome). Diagnosis may be made clinically and/or confirmed through genetic testing. * Unaffected relatives of patients with a suspected or known diagnosis of any of the group of disorders known as RASopathies.
Exclusion Criteria:
* Individuals who do not have a suspected or definite diagnosis of a RASopathy. * Individuals who do not have a relative with a suspected or definite diagnosis of a RASopathy. * Patients who do not have the ability/capacity to undergo the informed consent process OR whose parent/legal guardian is unable to undergo the informed consent process.
RAS Mutation, Neurofibromatosis 1, Noonan Syndrome, Noonan Syndrome With Multiple Lentigines, Noonan Neurofibromatosis Syndrome, Cardiofaciocutaneous Syndrome, Costello Syndrome, Legius Syndrome, Smith-Kingsmore Syndrome, MTOR Gene Mutation, GATOR-1 Gene Mutation, SYNGAP1-Related Intellectual Disability, DLG4, MAPK1 Gene Mutation
I'm interested
Share via email
See this study on ClinicalTrials.gov

International Collaborative Gaucher Group (ICGG) Gaucher Disease Registry & Pregnancy Sub-registry

The ICGG Gaucher Registry is an ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Gaucher disease, irrespective of treatment status. No experimental intervention is involved; patients in the Registry undergo clinical assessments and receive care as determined by the patient's treating physician. The objectives of the Registry are: * To enhance understanding of the variability, progression, identification, and natural history of Gaucher disease, with the ultimate goal of better guiding and assessing therapeutic intervention. * To assist the Gaucher medical community with the development of recommendations for monitoring patients, and to provide reports on patient outcomes, to optimize patient care. * To characterize the Gaucher disease population. * To evaluate the long-term effectiveness of imiglucerase and of eliglustat. Gaucher Pregnancy Sub-registry: The primary objective of this Sub-registry is to track pregnancy outcomes, including complications and infant growth, in all women with Gaucher disease during pregnancy, regardless of whether they receive disease-specific therapy. No experimental intervention is given; thus a patient will undergo clinical assessments and receive standard of care treatment as determined by the patient's physician.If a patient consents to this Sub-registry, information about the patient's medical and obstetric history, pregnancy, and birth will be collected, and, if a patient consents to data collection for her infant, data on infant growth through month 36 postpartum will be collected.

Laurie Bailey - laurie.bailey@cchmc.org

ALL
This study is NOT accepting healthy volunteers
NCT00358943
Show full eligibility criteria
Hide eligibility criteria
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
I'm interested
Share via email
See this study on ClinicalTrials.gov

Fabry Disease Registry & Pregnancy Sub-registry

The Fabry Registry is an ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Fabry disease, irrespective of treatment status. No experimental intervention is involved; patients in the Registry undergo clinical assessments and receive care as determined by the patient's treating physician. The primary objectives of the Registry are: * To enhance the understanding of the variability, progression, and natural history of Fabry disease, including heterozygous females with the disease; * To assist the Fabry medical community with the development of recommendations for monitoring patients and reports on patient outcomes to help optimize patient care; * To characterize and describe the Fabry population as a whole; * To evaluate the long-term safety and effectiveness of Fabrazyme® Fabry Pregnancy Sub-registry: This Sub-registry is a multicenter, international, longitudinal, observational, and voluntary program designed to track pregnancy outcomes for any pregnant woman enrolled in the Fabry Registry, regardless of whether she is receiving disease-specific therapy (such as enzyme replacement therapy with agalsidase beta) and irrespective of the commercial product with which she may be treated. Data from the Sub-registry are also used to fulfill various global regulatory requirements, to support product development/reimbursement, and for other research and non-research-related purposes. No experimental intervention is given; thus a patient will undergo clinical assessments and receive standard of care treatment as determined by the patient's physician. If a patient consents to this Sub-registry, information about the patient's medical and obstetric history, pregnancy, and birth will be collected, and, if a patient consents to data collection for her infant, data on infant growth through month 36 postpartum will be collected.

Laurie Bailey - laurie.bailey@cchmc.org

ALL
This study is NOT accepting healthy volunteers
NCT00196742
Show full eligibility criteria
Hide eligibility criteria
Inclusion Criteria * Fabry Registry: All patients with a confirmed diagnosis of Fabry disease who have signed the informed consent and patient authorization form(s) are eligible for inclusion. Confirmed diagnosis is defined as a documented deficiency in plasma or leukocyte αGAL (alpha-galactosidase) enzyme activity and/or mutation(s) in the gene coding for αGAL. * Fabry Pregnancy Sub-registry: * Eligible women must: * be enrolled in the Fabry 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 Fabry Registry: There are no exclusion criteria. Fabry Pregnancy Sub-registry: There are no exclusion criteria.
Fabry Disease
alpha Galactosidase A, aGAL (alpha-galactosidase), Fabry, GL3 (globotriaosylceramide), Anderson-Fabry Disease, angiokeratomas, GLA deficiency (gene deficiency), errors in metabolism
I'm interested
Share via email
See this study on ClinicalTrials.gov

A Study of Enlicitide Decanoate (MK-0616, an Oral PCSK9 Inhibitor) in Children and Adolescents With Heterozygous Familial Hypercholesterolemia (MK-0616-029)

This study is designed to learn if enlicitide decanoate is safe and effective to treat children and adolescents with heterozygous familial hypercholesterolemia (HeFH) and high amounts of low-density lipoprotein cholesterol (LDL-C) in the blood. The goals of this study are to learn about the safety of enlicitide and if children tolerate it, what happens to enlicitide in a child's body over time, and if enlicitide works to lower cholesterol levels in children more than a placebo.

Cierra Farrell - cierra.farrell@cchmc.org

ALL
6 years to 17 years old
PHASE2
This study is NOT accepting healthy volunteers
NCT07058077
Show full eligibility criteria
Hide eligibility criteria
Inclusion Criteria:
Inclusion criteria include, but are not limited to: * Has possible or definite diagnosis of HeFH based on a locally accepted diagnostic algorithm or diagnosis by genetic testing results * Has a fasted LDL-C value (evaluated by the central laboratory) that is ≥130 mg/dL * Is receiving either: * An optimized daily dose of statin (± nonstatin LLT) * A nonstatin LLT with documented intolerance to at least 2 different statins, or documented intolerance to 1 statin plus refusal of statin therapy by the participant or legally acceptable representative * Is on a stable dose of all background LLTs for at least 30 days prior to screening, with no medication or dose changes planned during participation in Part A or Part B
Exclusion Criteria:
Exclusion criteria include, but are not limited to: * Has a history of homozygous FH based on genetic or clinical criteria, or history of known compound heterozygous FH, or double heterozygous FH * Has a history of nephrotic syndrome * Has any clinically significant malabsorption condition based on investigator assessment * Was previously treated/is being treated with certain other cholesterol lowering medications, including proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors without adequate washout
DRUG: Enlicitide Decanoate, DRUG: Placebo
Heterozygous Familial Hypercholesterolemia (HeFH)
I'm interested
Share via email
See this study on ClinicalTrials.gov

Phase I/II Trial of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan Conditioning

This is a phase I/II open label multi-center study in which patients will receive low dose targeted busulfan followed by infusion of autologous CD34+ selected bone marrow or mobilized peripheral blood cells transduced with the G2SCID vector. Subjects will be enrolled over 3 years and be followed for 2 years post-infusion on this protocol, then followed long-term on a separate long-term follow-up protocol. Enrollment of subjects will be agreed upon by representatives of both sites. Data will be collected uniformly from both sites through an electronic capture system and key laboratory studies will be centralized. Harvest, cellular manufacturing and infusion will occur at each site using the same SOPs. Key aspects of cellular product characterization will be centralized

Joan Moore - joan.moore@cchmc.org

MALE
0 years to 5 years old
PHASE1
This study is NOT accepting healthy volunteers
NCT03311503
Show full eligibility criteria
Hide eligibility criteria
Inclusion Criteria:
\- 1. Diagnosis of SCID-X1 based on immunophenotype and lack of T cell function (proliferation to PHA \<10% of the lower limit of normal for the laboratory) AND confirmed by a mutation in IL2RG 2. Lack of an HLA identical (A, B, C, DR, DQ) related donor 3. Age 5 years old or younger 4. Signed informed consent 5. Documentation of willingness to follow up for 15 years post-infusion as currently required by the FDA 6. If the patient has previously undergone allogeneic transplant, lack of donor T cell engraftment must be documented. 7\. Age at least 8 weeks by the time of busulfan administration
Exclusion Criteria:

• Patients with an active, therapy-resistant infection. Infections that are known to be highly morbid in SCID patients will be considered active and therapy-resistant if the infectious agent is repeatedly isolated despite a minimum of 2 weeks of appropriate therapy and is associated with significant organ dysfunction (including but not limited to abnormalities listed below).
• Mechanical ventilation including continuous positive airway pressure
• Abnormal liver function defined by AST and ALT \>10 times the upper range of normal OR Bilirubin \>2 mg/dL
• Shortening fraction on echocardiogram \<25% or ejection fraction \<50%
• Renal failure defined as glomerular filtration rate \<30 ml/min/1.73 m2 or dialysis dependence
• Uncontrolled seizure disorder
• Encephalopathy
• Documented coexistence of any disorder known to affect DNA repair
• Diagnosis of active malignant disease other than EBV-associated lymphoproliferative disease
• Patients with evidence of infection with HIV-1
• Major (life-threatening) congenital anomalies. Examples of "major (life-threatening) congenital anomalies" include, but are not limited to: unrepaired cyanotic heart disease, hypoplastic lungs, anencephaly or other major central nervous system malformations, other severe non-repairable malformations of the gastrointestinal or genitourinary tracts that significantly impair organ function.
• Other conditions which in the opinion of the P.I. or co-investigators, contra-indicate collection and/or infusion of transduced cells or indicate patient's inability to follow the protocol. These may include for example clinical ineligibility to receive anesthesia, severe deterioriation of clinical condition of the patient after collection of bone marrow but before infusion of transduced cells, or documented refusal or inability of the family to return for scheduled visits. There may be other unforeseen rare circumstances that would result in exclusion of the patient, such as sudden loss of legal guardianship \-
BIOLOGICAL: autologous CD34+ cell transduced with G2SCID vector
Severe Combined Immunodeficiency, X Linked, Gene Therapy
lentiviral, Gene therapy, busulfan
I'm interested
Share via email
See this study on ClinicalTrials.gov

Beeline: A Phase 3 Study in GRIN-related Neurodevelopmental Disorder

The Phase 3 portion of Study RAD-GRIN-101 is a multinational, multicenter, randomized, double-blind, placebo-controlled trial followed by an open-label extension to evaluate the efficacy and safety of radiprodil in participants with GRIN-related neurodevelopmental disorder (GRIN-NDD) with a gain-of-function (GoF) genetic variant. This study will enroll two cohorts: one cohort of participants with a minimal number of countable motor seizures (with or without behavioral symptoms) (Phase 3 Cohort 1: Qualifying Seizures Cohort); and a second cohort with disease symptoms but no seizures or fewer seizures than required for the Qualifying Seizures Cohort (Phase 3 Cohort 2: Without Qualifying Seizures Auxiliary Cohort). Participants in each cohort will be randomized 1:1 to receive active drug (radiprodil) or matching placebo (Part A). Following completion of Part A, all eligible participants (including those previously on placebo) may continue into the open-label extension period (Part B) to receive radiprodil. The placebo-controlled portion is expected to be approximately 16 weeks for participants in Phase 3 Cohort 1 and 28 weeks for participants in Phase 3 Cohort 2. The study will evaluate the effect of radiprodil on seizures and non-seizure symptoms and assess safety.

Katie Hall - Katie.Hall@cchmc.org

ALL
1 month to 18 years old
PHASE3
This study is NOT accepting healthy volunteers
NCT07224581
Show full eligibility criteria
Hide eligibility criteria
Inclusion Criteria:
Part A, Participant: * Diagnosed with GRIN-NDD with GRIN1, GRIN2A, GRIN2B, or GRIN2D gene variants known to result in GoF of the NMDA receptor * Phase 3 Cohort 1 (Qualifying Seizures Cohort) ONLY: Experiencing at least 1 CMS per week and ≥4 CMS (generalized or focal) during screening * With history of inadequate response to at least 2 standard antiseizure medications (ASMs) * Phase 3 Cohort 2 (Without Qualifying Seizures Auxiliary Cohort) ONLY: With significant neurodevelopmental symptoms and a GRIN-CGI-S score ≥4 * On a stable dose of standard ASMs for at least 4 weeks prior to screening and should remain on stable doses throughout study participation * On stable nonpharmacological treatments such as ketogenic diet and should remain stable throughout study participation Part B: \- Participant has completed Part A and is eligible to continue study participation according to the judgement of the investigator and sponsor.
Exclusion Criteria:
PART A, Participant: * Has clinically relevant medical, neurologic, or psychiatric condition and/or behavioral disorder (including those related to GRIN-NDD) that would preclude or jeopardize participant's safe participation or study drug administration or the conduct of the study according to the judgement of the investigator or sponsor. * Is receiving \>4 standard ASMs at screening * Has a body weight of less than 5 kg at screening Part B: \- Participant has clinically relevant medical, neurologic, or psychiatric condition and/or behavioral disorder (including those related to GRIN-NDD) that would preclude or jeopardize participant's safe participation of study drug administration or the conduct of the study according to the judgement of the investigator or sponsor.
DRUG: Radiprodil, DRUG: Placebo
GRIN-related Neurodevelopmental Disorder
Beeline, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRIN-NDD
I'm interested
Share via email
See this study on ClinicalTrials.gov

ARPKD Database Study (ARPKD)

Hepato-renal fibrocystic diseases (HRFD) is a term developed that encompasses rare diseases such as Autosomal Recessive Polycystic Kidney Disease (ARPKD), and other diseases with common features (Joubert syndrome, Bardet Biedl syndrome, Meckel-Gruber syndrome, congenital hepatic fibrosis (CHF), Caroli syndrome (CS), polycystic liver disease, oro-facial-digital syndrome, nephronophithisis (NPHP), and glomerulocystic Kidney Disease). The lack of enough routinely available resources for these diseases to be well diagnosed and treated, would be best resolved by coordinated case accrual and sharing of clinical data and bio-specimens (DNA and tissues) among participating institutions, thereby leading to the centralization and sharing of clinical and genetic information, as well as bio-materials, providing an important engine for more rapid research progress and community understanding through the creation of research networks. This study aims to build a registry of a clinical database (medical health information), a mutational database (genetic information) and an educational resource about HRFD to eventually provide information about these diseases to families, physicians and genetic counselors via our existing HIPAA- approved study website. Goals for the Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource are: 1. \- Clinical Database: • Expand our comprehensive Clinical Database to include information from all patients who meet the inclusion criteria for hepato/renal fibrocystic diseases. 2. \- Mutational Database: * Test children with ARPKD and other hepato/renal fibrocystic disease to identify genetic mutations, establish a DNA bank for patients with hepato/renal fibrocystic diseases and develop a Mutational Database. This Database will be capable of linking clinical and mutational information via a unique identifier in a searchable format to facilitate genetic research (e.g. genotype-phenotype correlations, new disease gene studies, and modifier gene studies), translational studies, and clinical trials. 3- Tissue Resource: * Much of the research that is performed on diseases of the kidney, including recessive genetic diseases, requires human tissue from both affected as well as non-affected (controls) individuals. In this Core Resource, we are establishing an independent tissue resource which would supply investigators throughout North America with samples of hepato/renal fibrocystic disease affected tissues for studies of these disorders. 4- Educational Resource: * Expand our multi-media, web-based resource to provide a reliable up-to-date, and comprehensive informational resource for ARPKD and Hepato/Renal Diseases families, their physicians, and genetic counselors.

Kelli Krallman - Kelli.Krallman@cchmc.org

ALL
Up to 18 years old
This study is NOT accepting healthy volunteers
NCT01401998
Show full eligibility criteria
Hide eligibility criteria
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
I'm interested
Share via email
See this study on ClinicalTrials.gov

A Study of Migalastat in Pediatric Subjects (2 to <12 Yrs) With Fabry Disease and Amenable GLA Variants

An open-label study to evaluate the safety, pharmacokinetics (PK), pharmacodynamics (PD), and efficacy of migalastat treatment in pediatric subjects 2 to \< 12 years of age with Fabry disease and with amenable GLA variants.

Sydney Lakes - Sydney.Lakes@cchmc.org

ALL
2 years to 11 years old
PHASE3
This study is NOT accepting healthy volunteers
NCT06904261
Show full eligibility criteria
Hide eligibility criteria
Inclusion Criteria * Male or female subjects, diagnosed with Fabry disease who are between ages 2 and \< 12 years at randomization (subjects aged 11 years must have birthdays \> 30 days after randomization) * Subject's parent or legally authorized representative is willing and able to provide written informed consent and authorization for use and disclosure of personal health information or research-related health information, and subject provides assent, if applicable. * Subject has a GLA variant documented in his/her medical record that is amenable to migalastat prior to Visit 2. * Subject has not received ERT (eg, Replagal® \[agalsidase alfa\] or Fabrazyme® \[agalsidase beta\]) for at least 14 days prior to Baseline visit. * Subject has at least 1 documented complication (ie, historical or current laboratory abnormality or sign/symptom) of Fabry disease * If of reproductive potential, both male and female subjects agree to use a medically accepted method of contraception throughout the duration of the study and for up to 30 days after their last dose of migalastat. Exclusion Criteria * Has moderate or severe renal impairment (eGFR \< 60 mL/min/1.73 m2 at Visit 1 \[screening\]). * Has advanced kidney disease requiring dialysis or kidney transplantation. * History of allergy or sensitivity to migalastat (including excipients) or other iminosugars (eg, miglustat, miglitol). * Has received any investigational/experimental drug, biologic, or device within 30 days or 5 half-lives of the investigational product (whichever is longer) before Visit 1 (screening). * Has received any gene therapy at any time or anticipates starting gene therapy during the study period. * Requires treatment with Glyset (miglitol) or Zavesca (miglustat), within 6 months before Visit 1(screening) or throughout the study. * Has any intercurrent illness or condition at Visit 1 (screening) or Visit 2 (baseline) that may preclude the subject from fulfilling the protocol requirements or suggests to the investigator that the potential subject may have an unacceptable risk by participating in this study. * Pregnant or breastfeeding * Otherwise unsuitable for the study in the opinion of the investigator
DRUG: Migalastat HCl 20 mg
Fabry Disease
migalastat, AT1001, Galafold, lysosomal disease
I'm interested
Share via email
See this study on ClinicalTrials.gov

A Study of Selinexor in People With Wilms Tumors and Other Solid Tumors

The purpose of this study is to find out whether selinexor is an effective treatment for people who have a relapsed/refractory Wilms tumor, rhabdoid tumor, MPNST, BCOR-driven sarcoma, or another solid tumor that makes a higher than normal amount of XPO1 or has genetic changes that increase the activity of XP01.

- cancer@cchmc.org

ALL
1 year and over
PHASE2
This study is NOT accepting healthy volunteers
NCT05985161
Show full eligibility criteria
Hide eligibility criteria
Inclusion Criteria:
* Age:
• Age ≥ 6 at the time of informed consent
• Age ≥ 2 years to \< 6 years at time of informed consent (Refer to Section 4.3): If PK cohort 1 is open, patients in this age range may enroll onto this cohort. If PK cohort 1 has been completed and deemed sufficient to proceed, then such patients may enroll onto the phase 2.
• Age ≥ 12 months to \< 2 years at time of informed consent (Refer to Section 4.3): If PK cohort 2 is open, patients in this age range may enroll onto this cohort. If PK cohort 2 has been completed and deemed sufficient to proceed, then such patients may enroll onto the phase 2. * Consent: All patients and/or their parents or legally authorized representatives must sign a written informed consent. Assent, when appropriate, will be obtained according to institutional guidelines. * Performance: Karnofsky ≥ 60% for patients \> 16 years of age and Lansky ≥ 60 for patients ≤ 16 years of age. * Diagnosis: Patients must enroll into one of the following cohorts:
• Cohort A: Any type of Wilms tumor or nephroblastoma is eligible for this study provided they meet at least one of these criteria: (1) in their second or greater relapse, (2) refractory or in their first relapse with high risk histology (i.e., any anaplastic or blastemal-type after neoadjuvant chemotherapy), or (3) refractory or in first relapse without high risk histology but after having received chemotherapies other than the initial 4 agents used as current standard of care in the up-front setting for non-high risk cases - specifically vincristine, dactinomycin, doxorubicin, and irinotecan (i.e., any patient who relapses following an initial regimen more intense than EE4A, DD4A, VAD, AVD, or VIVA; for example, those including cyclophosphamide/etoposide - such as Regimen I, M, or MVI - or those additionally including carboplatin - such as Regimens UH-1, UH-2, or UH-3).
• Cohort B: Any Rhabdoid tumor is eligible for this cohort. This includes, but is not limited to, related subtypes of rhabdoid tumors such as atypical teratoid rhabdoid tumors (ATRT), malignant rhabdoid tumors of the kidney (MRTK), malignant rhabdoid tumors of the soft tissue and liver, small cell undifferentiated hepatoblastomas (SCUH), and small-cell carcinoma of the ovary of hypercalcemic type (SCCOHT). Patients must have failed to respond to at least 1 line of systemic therapy prior to enrollment.
• Cohort C: Patients with progressive, relapsed, unresectable or metastatic MPNST, are eligible for this cohort. Patients must have failed to respond to at least 1 line of systemic therapy prior to enrollment.
• Cohort D: Patients must not qualify for Cohorts A, B, or C but have a solid tumor (no hematologic malignancies including lymphoma) for which there is specific evidence that this particular patient's tumor may benefit from selinexor. Patients must have failed to respond to at least 1 line of systemic therapy prior to enrollment. Examples of evidence are listed below. All patients in this cohort require approval of study principal investigator and must provide documentation of specific supporting evidence. i. Tumor XPO1 Dependency: Defined as either Darwin OncoTarget demonstrating XPO1 as aberrantly activated or Darwin OncoTreat demonstrating context-specific tumor checkpoint inversion with Selinexor, both of which must be significant at a -log10 (Bonferroni corrected p-value) of 5 or greater. ii. Tumor XPO1 Activation: Defined as the detection of a gain of function mutation in XPO1, specifically E571K. Additionally, detection of elevated transcriptomic or proteomic expression of XPO1 in the tumor via RNAseq or IHC, respectively, would be considered sufficient for treatment. iii. Preclinical Tumor Testing: Defined as testing of Selinexor on patient derived cell line, organoid, or xenograft models of the patient's tumor (or other related tumors) performed in a laboratory context and for which, in the investigator's opinion, demonstrates promising activity. Testing may include commercial testing as well as academic laboratory testing. * Cohort E: Patients must have a solid tumor with an activating genomic alteration (e.g. fusion or internal tandem duplication) involving BCOR. Specific examples of qualifying alterations including BCOR-ITD, BCOR-CCNB3, BCOR-MAML3 and ZC3H7B-BCOR; Other potentially qualifying BCOR alterations require approval of study principal investigator; note that loss of function alterations of BCOR would not qualify. * Disease Status: Patients on the phase II portion of the study must have measurable disease whereas patients on the PK cohorts can have either evaluable or measurable disease as measured by the revised Response Evaluation Criteria in Solid Tumors (RECIST) guideline (Version 1.1). a. Primary Brain Tumors: Patients with primary brain tumors are eligible and must also have measurable disease for the phase II (as well as evaluable or measurable for the PK cohorts), but this can be defined as at least equal or greater than twice the slice thickness in two perpendicular diameters on MRI OR diffuse leptomeningeal disease OR clear MRI evidence of disease that may not be measurable in two perpendicular diameters OR positive CSF cytology alone. * Prior Therapy: Patients must have fully recovered from the acute toxic effects of all prior anti-cancer therapy and meet minimum washout durations (shown below) from prior therapy.
• Anti-cancer agents not known to be myelosuppressive: ≥ 7 days
• Anti-cancer and cytotoxic agents known to be myelosuppressive: ≥ 21 days
• Immunotherapies (including antibodies, interleukins, interferons, etc.): ≥ 21 days
• Adoptive cellular therapies (including modified T cells, vaccines, etc.): ≥ 42 days
• Autologous stem cell infusion (boost, no conditioning): ≥ 21 days
• Autologous stem cell transplantation (with conditioning): ≥ 42 days
• Allogeneic bone marrow transplantation: ≥ 84 days
• Focal external beam radiation (e.g., limited sites of disease): ≥ 14 days
• Substantial external beam radiation (e.g. whole lung or abdomen): ≥ 42 days
• Radiopharmaceutical therapy (e.g., radiolabeled antibody or MIBG): ≥ 42 days * Hepatic Function: Adequate function (within 14 days prior to C1D1), defined as:
• Total bilirubin \< 1.5 × upper limit of normal (ULN) (except patients with Gilbert's syndrome, who must have a total bilirubin of \<3 × ULN)
• Alanine aminotransferase (ALT) \< 3 × ULN
• Serum albumin ≥ 2 g/dL * Renal Function: Adequate function (within 14 days prior to C1D1) defined as a GFR ≥ 50 ml/min/1.73 m2 determined via any of these methods:
• Nuclear radioisotope
• 24 hr urine creatinine clearance
• Serum cystatin c
• Serum creatinine using the Schwartz formula for estimating creatinine clearance (Schwartz et al. J Peds, 106:522, 1985) * Hematologic Function: Adequate function (within 14 days prior to C1D1), defined as:
• Absolute neutrophil count (ANC) ≥ 1000/mm3
• Platelet count ≥ 100,000/mm3
• Note: patients may not receive platelet transfusions nor hematopoietic growth factor support, including granulocyte-colony stimulating factor (e.g. filgrastim) and platelet stimulators (e.g. romiplostim) for at least 7 days prior to demonstrating adequate hematologic function.
Exclusion Criteria:
* Prior Therapy: Has received selinexor or another XPO1 inhibitor previously. * Infection: Patients who have an uncontrolled infection are not eligible. Patients on prophylactic antibiotics or with a controlled infection within 1 week prior to C1D1 are acceptable * Transplants: Patients who have received allogeneic bone marrow transplant are potentially eligible unless they are being actively treated for GvHD. Patients who have had a prior solid organ transplantation are not eligible. * Compliance: Patients who as a result of serious medical, psychiatric, and/or social situation(s), in the opinion of the investigator, may not be able to comply with supportive care, safety monitoring, or any other key requirements of the study protocols are not eligible. * Pregnancy and Breast-feeding: 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. * Contraception: 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.
DRUG: Selinexor
Wilms Tumor, Rhabdoid Tumor, Malignant Peripheral Nerve Sheath Tumors, MPNST, Nephroblastoma, XPO1 Gene Mutation, Solid Tumor
Wilms Tumor, Rhabdoid Tumor, Malignant Peripheral Nerve Sheath Tumors, MPNST, Nephroblastoma, XPO1, Selinexor, Memorial Sloan Kettering Cancer Center, 22-393, Solid Tumor
I'm interested
Share via email
See this study on ClinicalTrials.gov

A Phase I/II Study of Trametinib and Azacitidine for Patients With Newly Diagnosed Juvenile Myelomonocytic Leukemia

This clinical trial will test the safety and efficacy of combining trametinib and azacitidine in patients with juvenile myelomonocytic leukemia (JMML). Newly diagnosed lower-risk JMML patients will receive trametinib and azacitidine. High-risk JMML patients will receive trametinib, azacitidine, fludarabine, and cytarabine.

cancer@cchmc.org

ALL
1 month to 21 years old
PHASE1
This study is NOT accepting healthy volunteers
NCT05849662
Show full eligibility criteria
Hide eligibility criteria
Inclusion Criteria:
Age • Patients must be ≥ 1 month and ≤21 years of age at enrollment. Diagnosis • Patients must meet the 2022 International Consensus Classification criteria for JMML. The diagnosis is made based on the following criteria:. Clinical and hematologic features (the first 2 features are present in most cases; the last 2 are required): * Peripheral blood monocyte count ≥ 1 × 109/L\* * Splenomegaly† * Blast percentage in PB and BM \< 20% * Absence of BCR::ABL1 * This monocyte threshold is not reached in approximately 7% of cases. †Splenomegaly is absent in 3% of cases at presentation. II. Genetic studies (1 finding required): * Somatic mutation in PTPN11‡ or KRAS‡ or NRAS‡ or RRAS or RRAS2‡ * Clinical diagnosis of neurofibromatosis type 1 or germline NF1 mutation and loss of heterozygosity of NF1 or somatic biallelic loss of NF1 * Germline CBL mutation and loss of heterozygosity of CBL, or somatic mutation(s) in CBL§ * Germline mutations (indicating Noonan syndrome) need to be excluded. §Occasional cases with heterozygous splice site mutations. Performance Level * Karnofsky \> 50% for patients ≥ 16 years of age * Lansky \> 50% for patients \< 16 years of age. Prior Therapy * No prior leukemia directed therapy is permitted with the exception of:
• Cytoreduction with hydroxyurea can be initiated and continued for up to 24 hours prior to the start of trametinib.
• Cytoreduction with 6-mercaptopurine (6-MP) 6-MP can be initiated and continued for up to 72 hours prior to the start of trametinib.
• Intrathecal (IT) cytarabine, IT methotrexate or triple IT therapy (cytarabine, methotrexate and hydrocortisone) within 7 days of enrollment as part of a diagnostic evaluation. No prior hematopoietic stem cell transplant is permitted. Adequate Renal Function Defined as: * Patient must have a calculated creatinine clearance or radioisotope GFR ≥ 70ml/min/1.73m2 OR a normal serum creatinine based on age/gender in the chart below: Maximum Serum Creatinine (mg/dL): * 1 month to \< 6 months old - Male: 0.4, Female 0.4 * 6 months to \<1 year old - Male 0.5, Female 0.5 * 1 to \< 2 years old - Male: 0.6, Female: 0.6 * 2 to \< 6 years old - Male:0.8, Female: 0.8 * 6 to \< 10 years old - Male: 1, Female: 1 * 10 to \< 13 years old - Male: 1.2, Female: 1.2 * 13 to \< 16 years old - Male: 1.5, Female: 1.4 * ≥ 16 years old - Male: 1.7, Female: 1.4 The threshold creatinine values in this Table were derived from the Schwartz formula for estimating GFR (Schwartz et al. J. Peds, 106:522, 1985) utilizing child length and stature data published by the CDC. Adequate Liver Function Defined as: * Direct bilirubin \< 1.5 x upper limit of normal (ULN) for age or normal, AND alanine transaminase (ALT) \< 5 x ULN for age. * The hepatic requirements are waived for patients with known or suspected liver involvement by leukemia and will not be evaluable for hepatotoxicity. This must be reviewed and approved by the study chair or vice chair. Adequate Cardiac Function Defined as: * Ejection fraction of \> or = to 50% by echocardiogram, OR * Ejection fraction of \> or = to 50% by radionuclide angiogram (MUGA). Reproductive Function * Female patients of childbearing potential must have a negative urine or serum pregnancy test confirmed within 2 weeks prior to enrollment. * Female patients with infants must agree not to breastfeed their infants while on this study. * Male and female patients of child-bearing potential must agree to use an effective method of contraception approved by the investigator during the study and for a minimum of 6 months after study treatment.
Exclusion Criteria:
* Patients cannot have a known allergy to any of the drugs used in the study. * Patients cannot have a systemic fungal, bacterial, viral, or other infection that is exhibiting ongoing signs/symptoms related to the infection without improvement despite appropriate antibiotics or other treatment. The patient needs to be off pressors and have negative blood cultures for 48 hours. * Patients cannot have a plan to administer non-protocol chemotherapy, radiation therapy, or immunotherapy during the study period. * Patients cannot have significant concurrent disease, illness, psychiatric disorder or social issue that would compromise patient safety or compliance with the protocol treatment or procedures, interfere with consent, study participation, follow up, or interpretation of study results. * Patients cannot have a clinical or molecular diagnosis of Noonan syndrome. Note: patients with either neurofibromatosis type 1 or Casitas B-lineage lymphoma (CBL) syndrome (also known as Noonan-like syndrome), are eligible to enroll. Patients with Down syndrome are excluded from the study. * Patient cannot have had prior use of hematopoietic growth factors, biologics (anti-neoplastic agent), or XRT. * Patients cannot be taking any medications for treatment of left ventricular systolic dysfunction. * Patients cannot have a history of or current evidence of retinal vein occlusion (RVO) or central serous retinopathy (CSR). * Patients cannot have had prior use of any MEK inhibitor.
DRUG: Trametinib, DRUG: Azacitidine, DRUG: Fludarabine, DRUG: Cytarabine
Leukemia, Juvenile Myelomonocytic, JMML, JCML, Neurofibromatosis 1, CBL Syndrome
I'm interested
Share via email
See this study on ClinicalTrials.gov

A Study of Vosoritide in Children With Noonan Syndrome With Inadequate Growth During or After Human Growth Hormone Treatment

The purpose of this study in children with Noonan syndrome is to evaluate the effect of 3 doses of vosoritide on growth as measured by AGV after 6 months of treatment. The long-term efficacy and safety of vosoritide at the therapeutic dose will be evaluated up to FAH.

Cierra Farrell - cierra.farrell@cchmc.org

ALL
3 years to 11 years old
PHASE2
This study is NOT accepting healthy volunteers
NCT06668805
Show full eligibility criteria
Hide eligibility criteria
Inclusion Criteria:

• Participants must be ≥ 3 years old, and \< 11 years old (females) or \< 12 years old (males), at the time of signing the informed consent form
• A clinical diagnosis of Noonan syndrome.
• A height assessment corresponding to a height Z-score of ≤ -1.28 SDs (below the 10th percentile for height) in reference to the general population of the same age and sex.
• Tanner Stage 1, at time of signing the ICF.
• Previous or current hGH treatment for short stature associated with their condition.
• Inadequate growth confirmed with an AGV that is less than age- and sex-matched average stature AGV determined using median heights from CDC growth charts
Exclusion Criteria:

• Diagnosis of systemic disease or condition that may cause short stature other than Noonan syndrome, eg, renal, neoplastic, pulmonary, cardiac, gastrointestinal, immunologic and metabolic disease.
• Bone age advanced beyond chronological age by more than 2 years.
• Uncorrected congenital heart disease which places the participant at increased risk of an adverse cardiac outcome in the setting of hypotension,
• Have an unstable condition likely to require surgical intervention during the study.
• Evidence of decreased growth velocity (AGV \< 1.5 cm/year) as assessed over a period of at least 6 months and growth plate closure assessed using bilateral lower extremity X-rays.
• Previous limb-lengthening surgery, or planned or expected to have limb lengthening surgery during the study period.
• Planned or expected bone-related surgery (ie, surgery involving disruption of bone cortex, excluding tooth extraction), during the study period.
DRUG: Vosoritide Injection
Noonan Syndrome
Short Stature, Musculoskeletal Diseases, Bone Diseases, Developmental Endocrine System Diseases Natriuretic Peptide, C-Type
I'm interested
Share via email
See this study on ClinicalTrials.gov

A Study to Check Liver Health in Boys With XLMTM, a Serious Genetic Muscle Condition (EXCEL)

XLMTM (X-linked myotubular myopathy) is a serious genetic muscle condition. It is caused by changes in the MTM1 gene which stops or slows down normal muscle development, causing severe muscle weakness. There is currently no cure for XLMTM. Ongoing care is needed to manage symptoms and prevent further medical problems from this condition. Recent research shows that individuals with XLMTM often have reduced bile flow which can affect liver and gallbladder health. Bile is a liquid made in the liver that helps digest fat. Ongoing liver health checks may help with the routine care of people with XLMTM. There is a need to understand liver problems that develop in individuals with XLMTM over time. The main aim of the study is to learn how many boys with XLMTM have new cases of liver problems during the study. This study is about collecting information only. This is known as an observational study. The individual's doctor decides on treatment, not the study sponsor (Astellas). In this study, boys under 18 diagnosed with XLMTM will be followed for about 1 year. The health of their liver and gallbladder will be checked about every 6 weeks. This can be done at home, if preferred. A scan called a Fibroscan (also known as transient elastography) will check for signs of scarring in the liver (fibrosis) and the build-up of lipids. It is suggested that each boy will have a Fibroscan when they start the study and another scan when they complete the study. This study will help understand liver, gallbladder, and bile duct issues in individuals with XLMTM over time. The goal is to improve their care and provide information to use in future clinical studies.

Morgan Morgan Thurza - morgan.thurza@cchmc.org

MALE
Up to 17 years old
This study is NOT accepting healthy volunteers
NCT06581146
Show full eligibility criteria
Hide eligibility criteria
Inclusion Criteria:
* Participant has a diagnosis of XLMTM resulting from a genetically confirmed mutation in the MTM1 gene based on genetic test reports. * Participant requires some mechanical ventilatory support (e.g., ranging from 24 hours per day full-time mechanical ventilation, to non-invasive support such as continuous positive airway pressure (CPAP) or bilevel positive airway pressure (BiPAP) during sleeping hours) * Participant (as applicable) and/or parent(s)/carer is willing to comply with the recommended schedule of assessments.
Exclusion Criteria:
* Participant is currently enrolled in an interventional study designed to treat XLMTM.
OTHER: No Intervention
X-Linked Myotubular Myopathy
XLMTM, Hepatobiliary
I'm interested
Share via email
See this study on ClinicalTrials.gov

Identification of Biomarkers for Patients with Vascular Anomalies

The study will use blood (serum and plasma) and tissue obtained from participants undergoing prescribed surgical resection of vascular anomalies of interest proposed in this study. The study will also use blood (serum and plasma) and tissue collected and stored in a tissue bank maintained by the Department of Hematology/Oncology.

- hvmcresearch@cchmc.org

ALL
Not specified
This study is NOT accepting healthy volunteers
NCT03001180
Show full eligibility criteria
Hide eligibility criteria
Inclusion Criteria:
* Any patient having labs drawn as standard of care will have blood drawn for the study if consented/ assented. * All patients who are undergoing a surgical procedure or sclerotherapy are currently consented for participation in the tissue bank.
Exclusion Criteria:
* N/A
Vascular Anomaly, Generalized Lymphatic Anomaly, Kaposiform Hemangioendothelioma, Kaposiform Lymphangiomatosis, Gorham-Stout Disease, Klippel Trenaunay Syndrome, Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
Generalized Lymphatic Anomaly, Vascular Anomaly, Kaposiform Hemangioendothelioma, Kaposiform Lymphangiomatosis, Vascular Endothelial Growth Factor, Biomarkers, GLA, KLA, KHE, GSD
I'm interested
Share via email
See this study on ClinicalTrials.gov

REVEAL: A Phase 3 Study of Obudanersen (ION582) in Angelman Syndrome

The purpose of this study is to evaluate the efficacy and safety of obudanersen in children and adults with Angelman syndrome caused by a deletion or mutation of the UBE3A gene.

Mary Cabrera-Thurman - Mary.Cabrera-Thurman@cchmc.org

ALL
2 years to 50 years old
PHASE3
This study is NOT accepting healthy volunteers
NCT06914609
Show full eligibility criteria
Hide eligibility criteria
Key
Inclusion Criteria:

• The participants caregiver(s)/ legally authorized representative must have given written informed consent and any authorizations required by local law and be able to comply with all study requirements.
• Medically stable and can undergo sedation and/or general anesthesia without intubation.
• Male or female between 2 and lesser than or equal to (≤)50 years of age, depending on specific cohort, at the time of the in-clinic Screening visit.
• Participant has a clinical diagnosis of Angelman syndrome (AS) with molecular confirmation of either Ubiquitin-protein ligase E3A (UBE3A) deletion or UBE3A mutation.
• Currently receiving stable doses of concomitant medications typically prescribed for AS, such as anti-epileptic medication, behavioral management medications, sleep medications, gabapentin, cannabidiol, and special diets, supplements, or nutritional support for at least 8 weeks prior to the Baseline visit.
• Legally authorized representative/caregiver(s) agree(s) not to post any of the participant's personal medical data or information related to the study on any website or social media site (e.g., Facebook, Instagram, X (formerly Twitter), YouTube, TikTok, etc.) from the time of enrollment until they are notified that the study is completed. Key
Exclusion Criteria:

• Must not have any clinically significant abnormalities in medical history (e.g., major surgery within 3 months of screening), or on physical examination for which treatment with an antisense oligonucleotide (ASO) would be contraindicated or which, in the opinion of the Principal Investigator (PI), could confound the results of this study.
• Known brain or spinal disease that would interfere with the lumbar puncture (LP) procedure, cerebrospinal fluid (CSF) circulation, or presence of other factors would affect the safety of the LP procedure.
• Must not have any other conditions, which, in the opinion of the Investigator, would make the participant unsuitable for inclusion or could interfere with the participant participating in or completing the study.
• Must not have any laboratory abnormalities or any other clinically significant abnormalities that would, as assessed by the Investigator, at screening or Baseline, render a participant unsuitable for inclusion.
• Previous treatment with an oligonucleotide (including small interfering ribonucleic acid (RNA) \[siRNA\], ASOs) gene therapy or gene editing. This exclusion criterion does not apply to approved nucleic acid-based vaccines, including mRNA vaccines, which are allowed.
• Has molecular confirmation of AS due to paternal uniparental disomy, imprinting center defect, or mosaic findings. Other inclusion/exclusion criteria may apply.
DRUG: obudanersen, DRUG: Placebo
Angelman Syndrome
ION582, Angelman Syndrome
I'm interested
Share via email
See this study on ClinicalTrials.gov

A Phase 2 Study of Mutant-selective PI3Kα Inhibitor, RLY-2608, in Adults and Children With PIK3CA Related Overgrowth Spectrum and Malformations Driven by PIK3CA Mutation (The ReInspire Study)

This is a 3-part Phase 2 randomized study evaluating the safety and efficacy of the mutant-selective PI3Kα inhibitor, zovegalisib (RLY-2608), in adults and children with PIK3CA Related Overgrowth Spectrum (PROS) and malformations driven by PIK3CA mutation. Part 1 is a dose selection, Part 2 is a basket design with exploratory single-arm cohorts for various subpopulations of participants, and Part 3 is randomized, double-blinded study vs placebo.

Sarah Price - Sarah.price@cchmc.org

ALL
2 years and over
PHASE2
This study is NOT accepting healthy volunteers
NCT06789913
Show full eligibility criteria
Hide eligibility criteria
Key
Inclusion Criteria:
* The participant must have a clinical diagnosis of PROS or a malformation within the ISSVA classification. * One or more documented activating PIK3CA mutation(s) that are targeted by selective PI3Kα inhibitors in lesional tissue and/or cell-free DNA from the lesion or blood. Some participants may be eligible without a documented PIK3CA mutation, with the sponsor's approval, as long as no other genetic driver has been documented. * Lansky (\<16 yo) or Karnofsky (≥16 yo) performance status of ≥50. * Agree to provide archived lesional fluid and/or tissue or be willing to undergo pretreatment lesional biopsy (if considered safe and medically feasible) to assess PIK3CA status. Key
Exclusion Criteria:
* Known hypersensitivity to RLY-2608. * Any factors that increase the risk of QTc prolongation or risk of arrhythmic events * Clinically significant, uncontrolled cardiovascular disease * Received disease-directed therapy prior to the first dose of study drug:
• Systemic therapy or antibody within 5 half-lives of the therapy.
• Local therapy including radiation, surgery, or other procedures within 28 days; lesion(s) must have demonstrated progression after the procedure.
DRUG: RLY-2608, DRUG: Placebo
PIK3CA-Related Overgrowth Spectrum (PROS), Lymphatic Malformations, Vascular Malformations, PIK3CA Mutation, CLOVES Syndrome, Klippel Trenaunay Syndrome, Megalencephaly-capillary Malformation Polymicrogyria Syndrome (MCAP), Vascular Anomalies
I'm interested
Share via email
See this study on ClinicalTrials.gov

Quercetin Dyskeratosis Congenita (DC)/Telomere Biology Disorders (TBD)

The purpose of this study is to see if a vitamin-like substance called quercetin is safe for people who have a rare condition called Dyskeratosis congenita (DC) or telomere biology disorders (TBD).

Stephanie Edwards - stephanie.edwards@cchmc.org

ALL
2 years and over
PHASE1
This study is NOT accepting healthy volunteers
NCT07628972
Show full eligibility criteria
Hide eligibility criteria
Inclusion Criteria:

• Diagnosis of DC/TBD deficiency as defined by at least one of the following: * Age adjusted mean-telomere length of \<1 percentile in all tested peripheral blood cells such as granulocytes, lymphocytes, B-cells, naïve T-cells, memory T-cells, and NK cells * A pathogenic or likely pathogenic mutation in DKC1, TERC, TERT, NOP10, NHP2, TINF2, CTC1, PARN, RTEL1, ACD, NAF1, ZCCHC8, or WRAP53
• Patients ≥ 2.0 years of age\* * The first three enrolled patients must be ≥ 10.0 years of age
• Able to take medication orally
Exclusion Criteria:

• Renal failure requiring dialysis
• Total bilirubin \>3 mg/dl and/or SGPT \>300 at time of enrollment, unless elevation thought to be related to DC/TBD
• Patients who have received quercetin or any over-the-counter antioxidant supplementation within last 1 month
• Patients currently taking androgen therapy
• Patients receiving digoxin therapy, who are unable to discontinue treatment due to medical reasons
• Patients receiving fluoroquinolone therapy, who are unable to discontinue treatment due to medical reasons
• Patients who are pregnant or breastfeeding or are at risk of pregnancy and are unable to use acceptable methods of birth control during the length of the study
• Patients with morphologic or cytogenetic evidence of myelodysplasia or leukemia.
• Patients needing to start or actively receiving radiation therapy, chemotherapy or immunotherapy for treatment of SCC or other cancers.
• Patients with unstable disease status or other medical issues requiring hospitalization or rapid escalation of medical care
• Participating in another therapeutic study for DC/TBD
• Patients who are in the early post-stem cell transplant period (i.e. first 6 months post-transplant)
DRUG: Quercetin
Dyskeratosis Congenita, Telomere Disease
I'm interested
Share via email
See this study on ClinicalTrials.gov

Shwachman Diamond Syndrome Registry and Study (SDSR)

Shwachman-Diamond syndrome (SDS) is a genetic condition characterized by bone marrow failure, medical co-morbidities, and leukemia predisposition. SDS-Like patients share clinical features with SDS but lack mutations in known SDS genes. Since SDS/SDS-Like syndromes are rare diseases, data are sparse regarding the clinical features, natural history, clinical outcomes with current management, and treatment. For this reason, the SDS Registry was formed to collect clinical data from medical records and to bank biological samples with the goal of understanding SDS/SDS-Like diseases to develop better treatments and improve the health of patients with these conditions.

Caitlin Cottrell - caitlin.cottrell@cchmc.org

ALL
NCT06056908
Show full eligibility criteria
Hide eligibility criteria
Inclusion Criteria:
Shwachman Diamond syndrome, Shwachman-Diamond Syndrome-Like conditions, or a genetically undefined condition that shares clinical features with Shwachman Diamond Syndrome. * Biallelic mutations in SBDS, or pathogenic mutations in DNAJC21, EFL1, or SRP54 OR * Shwachman-Diamond Syndrome defined clinically OR * Clinically suspected Shwachman-Diamond Syndrome OR * Phenotypic features suggestive of SDS OR * Parents, siblings, and other blood relatives of any age, living and deceased, of patients with SDS or SDS-Like conditions are eligible for this study
Exclusion Criteria:
• Patients with other diagnosed causes of bone marrow failure, exocrine pancreatic insufficiency and cancer predisposition will be excluded.
Shwachman-Diamond Syndrome, Shwachman-Diamond Syndrome-Like
Bone marrow failure, Inherited bone marrow failure syndromes, Bone marrow, Neutropenia, Leukemia, MDS, Pancreas, Cancer predisposition
I'm interested
Share via email
See this study on ClinicalTrials.gov

Prospective Clinical Assessment Study in Children With Hypochondroplasia (HCH)

This is a long-term, multicenter, non-interventional study of children ages 2.5 to \<17 years with hypochondroplasia (HCH).

Laurie Laurie Bailey - Laurie.Bailey@cchmc.org

ALL
30 months to 16 years old
This study is NOT accepting healthy volunteers
NCT06410976
Show full eligibility criteria
Hide eligibility criteria
Inclusion Criteria:
Signed informed consent. Aged 2.5 to \<17 years at study entry. Diagnosis of HCH documented clinically by the presence of disproportionate short stature and confirmed with a molecular test. Participants are ambulatory and able to stand without assistance. Study participants and parent(s), guardian(s), or caregiver(s) are willing and able to comply with study visits and study procedures.
Exclusion Criteria:
Have ACH or short stature condition other than HCH. In females, having had their menarche. Annualized height growth velocity ≤1.5 cm/year over a period ≥6 months prior to screening. Having a clinically significant disease or condition that in view of the investigator or Sponsor will interfere with the evaluation of growth, with study participation or not be in the best interest of the participant. Clinically significant abnormality in any laboratory test result at screening Current evidence of corneal or retinal disorders. Have used any other investigational or approved product or medical device for the treatment of HCH or short stature for ≥ 30 days or with the last dose \<6 months before screening. Have had regular long-term treatment (\>1 month) with oral corticosteroids (low-dose ongoing inhaled steroid for asthma is acceptable). Previous limb-lengthening surgery or guided growth surgery with plates still in place or removed within the 6 months prior to screening. Having had a fracture of the long bones or spine within 12 months of screening. History and/or current evidence of extensive ectopic tissue calcification. History of malignancy. Concurrent circumstance, disease, or condition that, in the view of the investigator and/or sponsor, would interfere with study participation, and/or would place the participant at high risk for poor compliance with study activities or for not completing the study. Current participation in any other ongoing clinical study with another sponsor.
Hypochondroplasia
skeletal dysplasia, endochondral ossification, hypochondroplasia, HCH, shortened proximal limbs, fibroblast growth factor receptor 3, FGFR3, endochondral bone formation, disproportionate short stature, quality of life, dwarfism, bone diseases, musculoskeletal diseases, osteochondrodysplasia, functional abilities, annualized growth velocity, annualized height velocity, growth, genetic diseases, congenital, AHV, AGV
I'm interested
Share via email
See this study on ClinicalTrials.gov

A Gaucher Disease Gene Therapy Trial With FLT201 (GALILEO-3)

This study is a Phase 3, non-randomized, multicenter, efficacy and safety study in adult patients with Gaucher disease Type 1, on stable treatment with enzyme replacement therapy (ERT) or substrate reduction therapy (SRT) for at least 2 years. The study aims to confirm the efficacy and safety of FLT201 in this population after discontinuation of ERT/SRT.

Laurie Bailey - laurie.bailey@cchmc.org

ALL
18 years and over
PHASE3
This study is NOT accepting healthy volunteers
NCT07223944
Show full eligibility criteria
Hide eligibility criteria
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
I'm interested
Share via email
See this study on ClinicalTrials.gov

Studying Health Outcomes After Treatment in Patients With Retinoblastoma (RIVERBOAT)

This trial studies health outcomes after treatment in patients with retinoblastoma. Gathering health information over time from patients and family members through vision assessments, samples of tissue and saliva, and questionnaires may help doctors learn more about what causes retinoblastoma, identify long-term health outcomes for patients with retinoblastoma, and find out which therapies may be the best for treating retinoblastoma

Amanda Pfeiffer - amanda.pfeiffer@cchmc.org

ALL
This study is also accepting healthy volunteers
NCT03932786
Show full eligibility criteria
Hide eligibility criteria
* Unilateral or bilateral intraocular retinoblastoma * Diagnosis between the ages of 0 - 17.99 years * Diagnosis on or after January 1, 2008 * No exclusions based on primary or secondary treatment modalities * Retrospective group patients must be ≥ 6 months post end of treatment at study entry * For those already at this timepoint, they are now eligible * For those in treatment, or otherwise not yet at this timepoint, they are eligible once at they are ≥ 6 months post end of treatment * Prospective group patients must not have begun treatment * Patients with diminished capacity will not be enrolled. * Language: Patients must be able to communicate in English, French, or Spanish * Sibling Cohort: One sibling, not affected by retinoblastoma will be enrolled, preference for the sibling closest in age to the RB patient. * Regulatory Requirements: All patients and/or their parents or legal guardians must sign a written informed consent. All institutional, FDA, and NCI requirements for human studies must be met.
PROCEDURE: Biospecimen collection, OTHER: Vision assessment, OTHER: Questionnaire administration, OTHER: Quality of life assessment, OTHER: Laboratory Biomarker Analysis
Retinoblastoma, Cancer Survivor, Biological Sibling, Intraocular Retinoblastoma, Unilateral Retinoblastoma
I'm interested
Share via email
See this study on ClinicalTrials.gov

Study of Olutasidenib and Temozolomide in HGG

The goal of this study is to determine the efficacy of the study drug olutasidenib to treat newly diagnosed pediatric and young adult patients with a high-grade glioma (HGG) harboring an IDH1 mutation. The main question the study aims to answer is whether the combination of olutasidenib and temozolomide (TMZ) can prolong the life of patients diagnosed with an IDH-mutant HGG.

Peter M de Blank, MD - Peter.deBlank@cchmc.org

ALL
12 years to 39 years old
PHASE2
This study is NOT accepting healthy volunteers
NCT06161974
Show full eligibility criteria
Hide eligibility criteria
Criteria TarGeT-D study strata definitions * Stratum A: Patients with localized, intracranial, non-pontine, and non-thalamic IDH 1 mutant Astrocytoma, CNS WHO Grade 3. * Stratum B: Patients with localized, intracranial, non-pontine, and non-thalamic IDH 1 mutant Astrocytoma, CNS WHO Grade 4. * Stratum C: Patients with IDH-1 mutant DIPG, primary thalamic and spinal cord IDH-1 mutant HGG.
Inclusion Criteria:

• Inclusion criteria already met to enroll on TarGeT-SCR (central molecular and histopathologic screening) based on:
• 1) Age: patients must be ≥12 years and ≤39 years of age at the time of enrollment on TarGeT-SCR 1.2) Diagnosis: * Patients with a newly-diagnosed IDH1-mutant HGG including DIPG are eligible. All patients must have tumor tissue from diagnostic biopsy or resection, without exceptions. The diagnosis of HGG, including DIPG, must have been confirmed through TarGeT-SCR. * For the diagnosis of DIPG, patients must have a tumor with pontine epicenter and diffuse involvement of at least 2/3 of the pons, and histopathology consistent with diffuse WHO Grade 2-4 glioma. * All other HGG must be WHO Grade 3 or 4.
• 3) Disease status: There are no disease status requirements for enrollment * Measurable disease is not required. Patients without measurable disease are eligible. * Primary spinal tumor: Patients with a primary spinal HGG are eligible. * Patient must not have metastatic disease.
• Inclusion criteria for assignment to TarGeT-D, for all strata:
• 1 Presence of at Least One Relevant Actionable Somatic Mutation in IDH1 Gene, Detailed Here: * R132H, R132C, R132S, R132G or R132L. * Patients whose tumors harbor other alterations in addition to IDH1 mutation will potentially be eligible following consensus recommendation by the international multidisciplinary molecular screening committee. * Patients with IDH2 mutations are not eligible. * Patients with oligodendroglioma, IDH-mutant and 1p/19q-codeleted are not eligible.
• 2 Weight: Patients must weigh ≥35 Kg (77 lbs) at the time of enrollment on TarGeT-D.
• 3 Performance Level: Karnofsky ≥ 50% for patients \> 16 years of age and Lansky ≥ 50 for patients ≤ 16 years of age. Patients who are unable to walk because of paralysis, but who are up in a wheelchair, will be considered ambulatory for the purpose of assessing the performance score.
• 4 Prior Therapy 2.4.1 Surgery, radiation, and/or dexamethasone are permissible. Temozolomide administered concurrently with radiotherapy is permissible. Prior administration of bevacizumab is allowed, given at least 42-day washout period is completed prior to beginning treatment on TarGeT-D. No other prior anticancer therapy for HGG will be allowed.
• 4.2 Radiation therapy requirements: RT, delivered via photon or proton beam, must have been administered at a standard dose including 54 Gy in 30 fractions for DIPG, 55-59.4 Gy in 30-33 fractions for other HGG or 45-54 Gy for primary spinal cord HGG. Any variances in the radiotherapy dose within 10% of the standard doses outlined above will be discussed with the Study Chair to confirm eligibility prior to study enrollment.
• 4.3 Timing between diagnosis and start of RT: Patients must have started RT \< 42 calendar days of initial diagnosis defined as the date of diagnostic biopsy or resection; if a patient underwent two upfront surgeries (e.g., biopsy then resection or debulking), this is the date of the second surgery. * Patients in pre-maintenance phase must enroll and start treatment no later than 21 calendar days post-completion of RT. * Patients not in pre-maintenance phase must enroll and start treatment no later than 35 calendar days post-completion of RT.
• 5 Organ Function Requirements 2.5.1 Adequate Bone Marrow Function Defined as: * Peripheral absolute neutrophil count (ANC) ≥ 1000/mm3. * Platelet count ≥ 100,000/mm3 (transfusion independent, defined as not receiving platelet transfusions for at least 7 days prior to enrollment). * Hemoglobin \> 8 g/dL (may be transfused). 2.5.2 Adequate Renal Function Defined as * Creatinine clearance or radioisotope GFR ≥ 70ml/min/1.73 m2 OR * Maximum serum creatinine based on age/gender as follows: 10 to \< 13 yrs=1.2 mg/dL for males and females. 13 to \< 16 yrs=1.5 mg/dL for males and 1.4 mg/dL for females.
• 5.3 Adequate Liver Function Defined as: * Total bilirubin must be ≤ 1.5 × institutional ULN. * AST(SGOT)/ALT(SGPT) \< 3 × institutional ULN. * Alkaline Phosphatase \< 3 × institutional ULN. 2.5.4 Adequate Neurologic Function Defined as: * Patients with seizure disorder may be enrolled if well-controlled on anticonvulsants that are not a strong inducer or inhibitor of CYP3A4/5. * Patients must be able to swallow oral medications to be eligible for study enrollment.
• 6. Informed consent: All patients and/or their parents or legally authorized representatives must sign a written informed consent. Assent, when appropriate, will be obtained according to institutional guidelines.
Exclusion Criteria:

• Pregnancy or Breast-Feeding: Pregnant or breast-feeding women will not be entered on this study due to unknown potential risks of fetal and teratogenic adverse events as seen in animal studies. Pregnancy tests must be obtained in girls who are post-menarchal. Patients of childbearing or child fathering potential must agree to use one highly effective method of contraception while being treated on this study and for 3 months after completing therapy. A woman is considered of childbearing potential if she is fertile, following menarche and until becoming post-menopausal unless permanently sterile. A postmenopausal state is defined as no menses for 12 months without an alternative medical cause. A high follicle stimulating hormone (FSH) level in the postmenopausal range may be used to confirm a post-menopausal state in women not using hormonal contraception or hormonal replacement therapy. However, in the absence of 12 months of amenorrhea, a single FSH measurement is insufficient. A man is considered fertile after puberty unless permanently sterile by bilateral orchidectomy. Male participants should refrain from sperm donation throughout the duration of treatment and for 3 months after completion of therapy. A highly effective contraception method is defined as one that results in a low failure rate (\<1% per year) when used consistently and correctly. The following are considered highly effective contraception methods: * Combined estrogen and progesterone containing hormonal contraception associated with inhibition of ovulation. * Progesterone-only hormonal contraception associated with inhibition of ovulation. * Intra Uterine Device (IUD). * Intra uterine hormone releasing system. * Bilateral tubal occlusion. * Vasectomized partner. * Sexual abstinence (avoiding heterosexual intercourse). * The following contraceptive measures are NOT considered effective: * Progesterone-only hormonal contraception (birth control pill) that that does NOT stop ovulation. * Male or female condom with or without spermicide. * Cap, diaphragm, or sponge with spermicide.
• Using the following types of concomitant medications: * Corticosteroids: Patients receiving corticosteroids are eligible. The use of corticosteroids must be reported. * Investigational Drugs: Patients who are currently receiving another investigational drug are not eligible. * Anti-cancer Agents: Concurrent anti-cancer agents are not allowed with the exception of temozolomide given concurrently with RT and as protocol-instructed post RT maintenance therapy after enrollment on TarGeT-D. * Anticonvulsants: Patients who are receiving enzyme inducing anticonvulsants that are strong inducers of CYP3A4/5 are not eligible. * Strong CYP3A4/5 inducers: Patients who are receiving strong inducers of CYP3A4/5 are not eligible. Strong inducers of CYP3A4/5 should be avoided from 14 days prior to or 5 half-lives (whichever is longer) enrollment to the end of the study. * Patients who are receiving medications known to prolong QTc interval are not eligible * Selective serotonin reuptake inhibitors (SSRIs) such as citalopram (Celexa), escitalopram (Lexapro), fluoxetine (Prozac), fluvoxamine (Luvox), paroxetine (Paxil), sertraline (Zoloft) should be used with caution but are not contraindicated.
• Other Criteria * Infection: Patients who have an uncontrolled infection 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. * Patients with known clinically significant active malabsorption syndrome or other condition that could affect absorption are not eligible. * Patients with malignancy related to HIV or solid organ transplant: known history of HIV, HBV surface antigen positivity or positive HCV antibody are not eligible. Viral testing is not required unless clinically indicated in patients without a known history. * Patients with prior or ongoing clinically significant illness, medical or psychiatric condition, that, in the investigator's opinion, could affect the safety of the participant, or could impair the assessment of study results are not eligible. * Patients with any prior solid organ transplant are not eligible. * Patients with secondary/radiation-related HGG are not eligible. * Patients with metastatic/disseminated HGG who have received CSI are not eligible.
DRUG: Olutasidenib + TMZ
High Grade Glioma, Astrocytoma, Astrocytoma, Grade III, Astrocytoma, Grade IV, Diffuse Intrinsic Pontine Glioma, WHO Grade III Glioma, WHO Grade IV Glioma, Metastatic Brain Tumor, Diffuse Midline Glioma, H3 K27M-Mutant, Thalamus Tumor, Spinal Tumor, IDH1 Mutation, IDH1 R132, IDH1 R132C, IDH1 R132H, IDH1 R132S, IDH1 R132G, IDH1 R132L, Oligodendroglioma
I'm interested
Share via email
See this study on ClinicalTrials.gov

A Phase 2 Study of TCP-25 Gel in Patients With Epidermolysis Bullosa, STEP-study (STEP)

This is a Phase 2, double-blind, randomized, vehicle-controlled study designed to evaluate efficacy, safety, and tolerability of topically applied TCP-25 gel in patients with confirmed DEB or JEB. The study will implement intrasubject randomization, ie, a pair of matching index wounds will be randomly assigned to be treated with a local application of either TCP 25 gel or vehicle gel.

- bret.augsburger@cchmc.org

ALL
4 years and over
PHASE2
This study is NOT accepting healthy volunteers
NCT06594393
Show full eligibility criteria
Hide eligibility criteria
Inclusion Criteria:
* Male or female patients with documented diagnosis of DEB or JEB, confirmed by genetic testing and/or by a skin biopsy with immunofluorescence mapping. * Patients ≥4 years old. Note: Initially, patients ≥12 years will be enrolled. Enrollment will be open to 4 to 11 year old pediatric patients (both inclusive), after a DMC reviews and provides a positive opinion regarding the safety and tolerability of the IMP in at least 3 patients 12 to 18 years old who have completed at least 4 weeks of IMP use.
Exclusion Criteria:
* The patient has any subtype of EB other than DEB or JEB. * The patient is currently being treated or planned to be treated with systemic antibiotics. Note: Use of preventive and/or anti-inflammatory antibiotic treatment, including doxycycline, on an established treatment regimen (stable dose for ≥6 weeks before the Baseline Visit) is permitted. Use of topical antibiotics on the index wounds within 7 days before the Baseline Visit is prohibited. • Use of systemic corticosteroids \>0.2 mg/kg prednisone dose equivalent per day within 30 days or use of topical corticosteroids on index wounds within 7 days before the Screening Visit. Note: Corticosteroids for inhalation, ophthalmic, or intranasal use are permitted. • The patient has a history of or current malignancy over the index wound, eg, basal cell carcinoma or squamous cell carcinoma.
DRUG: TCP-25 gel, DRUG: Vehicle (placebo)
Epidermolysis Bullosa (EB), Dystrophic Epidermolysis Bullosa, Junctional Epidermolysis Bullosa
epidermolysis bullosa, topical treatment
I'm interested
Share via email
See this study on ClinicalTrials.gov