Clinical trials: Congenital Diseases
Wolman Disease, Cholesterol Ester Storage Disease
Wolman/CESD Natural History Chart Review and Longitudinal Follow-Up
The purpose of this study are: to characterize and understand the natural history of disease progression in WD and CESD, and to provide historical controls for WD and CESD for developing clinical treatment trials.
- Conditions
- Wolman Disease, Cholesterol Ester Storage Disease, Acid Cholesteryl Ester Hydrolase Deficiency, Type 2
- Trial name
- NCT01884220
- Testing
- There are no interventions in this study.
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Optic, Atrophy, Hereditary, Leber
Efficacy Study of GS010 for Treatment of Vision Loss From 7 Months to 1 Year From Onset in LHON Due to the ND4 Mutation (REVERSE)
The goal of this clinical trial is to assess the effectiveness of GS010, a gene therapy, in improving the visual outcome in participants with Leber Hereditary Optic Neuropathy (LHON) due to the G11778A ND4 mitochondrial mutation…
- Trial name
- REVERSE (NCT02652780)
- Testing
- GS010
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 37 people
- Sponsor
- GenSight Biologics
Limb-Girdle Muscular Dystrophy, Type 2E
Limb Girdle Muscular Dystrophy Type 2E Recruitment Study
This study is to recruit and establish baseline measurements for potential subjects that may be eligible for a gene therapy trial.
- Trial name
- NCT03492346
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Nationwide Children's Hospital
Mild to Moderate Atopic Dermatitis
Efficacy, Safety, Tolerability, Pharmacokinetics and Pharmacodynamics Study of the Topical Formulation SB011 Applied to Lesional Skin in Patients With Atopic Eczema
Atopic dermatitis (AD) is a chronic or chronic recurring inflammatory skin disorder. Patients suffer from eczema and often severe pruritus on the affected skin, as well as from frequent complications and secondary infections.
- Trial name
- NCT02079688
- Testing
- SB011, 2 % (Water/Oil/Water) emulsion of hgd40, Multiple W/O/W formulation, active ingredient-free vehicle
- Where
- Germany
- Volunteers
- 25 people
- Sponsor
- Sterna Biologicals GmbH & Co. KG
Fabry Disease
Podocyturia - Predictor of Renal Dysfunction in Fabry Nephropathy
In patients with Fabry disease, this research study explores the presence of podocytes in their urine as a potential non-invasive biomarker for baseline kidney disease; and explores changes in the quantity of podocytes in their…
- Trial name
- NCT02994303
- Where
- 3 sites in United States
- Volunteers
- 58 people
- Sponsor
- University of Washington
Cardiomyopathy, Dilated, Prognosis
Cardiac Magnetic Resonance-Clinical Prediction Model-Dilated Cardiomyopathy
Dilated cardiomyopathy (DCM) is a common and serious heart disease characterized by left ventricular enlargement and impaired pumping function, with adverse prognosis (including heart failure, arrhythmia, heart-related…
- Conditions
- Cardiomyopathy, Dilated, Prognosis, Magnetic Resonance Imaging, Cardiac, Death, Sudden, Cardiac
- Trial name
- MPS-CMR-DCM (NCT07527715)
- Testing
- left ventricular ejection fraction
- Where
- China
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Shandong Provincial Hospital
Arrhythmogenic Right Ventricular Cardiomyopathy
Non-interventional Study of Seroprevalence of Pre-existing Antibodies Against Adenovirus-associated Virus Vector (AAV9) and the Progression of Disease in Patients With Plakophilin 2 (PKP2)-Associated Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
This is a multicenter, non-interventional study to observe the natural progression of the disease and to study the prevalence of pre-existing antibodies to AAV9 used for gene therapy in a population of patients with PKP2…
- Trial name
- RIDGE (NCT06311708)
- Where
- 21 sites in United States, France and 4 more
- Volunteers
- 200 people
- Sponsor
- Tenaya Therapeutics
Natural Pregnancy, Pregnancy, Ovarian
Genomic Imprinting and Assisted Reproductive Technologies
Genomic imprinting, referring to an epigenetic marking resulting in monoallelic gene expression, plays a critical role in development.
- Trial name
- EPIGEN (NCT00773825)
- Where
- France
- Volunteers
- 542 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Bronchopulmonary Dysplasia
TINN2: Treat Infection in NeoNates 2
The aim of the TINN2 study is to evaluate the efficacy of azithromycin in prevention of bronchopulmonary dysplasia in preterm neonates.
- Trial name
- TINN2 (NCT02282176)
- Testing
- Azithromycin
- Where
- 16 sites in Belgium, France and 7 more
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Hailey Hailey Disease
Efficacy of Guselkumab in Treating Hailey Hailey Disease
Hailey-Hailey disease (HHD) is a debilitating genetic skin disorder, affecting mainly body folds with erythema and painful erosions and blisters.
- Trial name
- NCT06651489
- Testing
- Guselkumab
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Yale University
Fragile X Syndrome, Fragile X Mental Retardation Syndrome
A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
This study is a controlled trial of metformin in individuals with fragile X syndrome between the ages of 6 and 35 years. Participants will be randomized in a double-blind design to either drug or placebo and will attend three…
- Conditions
- Fragile X Syndrome, Fragile X Mental Retardation Syndrome, Mental Retardation, X-Linked, Genetic Diseases, X-Linked
- Trial name
- NCT03862950
- Testing
- Metformin
- Where
- 2 sites in Canada
- Volunteers
- 125 people
- Sponsor
- University of Alberta
Cystic Fibrosis
A Study of Lung Clearance After Hypertonic Saline Delivery Using the tPAD Device
The primary objective of this study is to determine whether a single overnight, eight-hour administration of a 7% NaCl solution delivered by the Parion Sciences transnasal Pulmonary Aerosol Delivery (tPAD) device has a…
- Trial name
- NCT02141191
- Testing
- inhaled hypertonic saline (7%)
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- University of Pittsburgh
Ataxia-Telangiectasia (A-T)
Cell-Based Approaches For Modeling and Treating Ataxia-Telangiectasia
This research is being done to better understand the causes of the disease Ataxia-Telangiectasia and, in the longer-term, develop new therapies for the disease using stem cells.
- Trial name
- NCT02246491
- Testing
- A-T iPS cell line, Carrier patients iPS cell line
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Johns Hopkins University
Hyperinsulinemic Hypoglycemia
Post-Gastric Bypass Hypoglycemia
Post-gastric bypass hyperinsulinemic hypoglycemia is a recently described disorder occurring in some patients after gastric bypass surgery for obesity.
- Trial name
- NCT01933490
- Testing
- high carbohydrate test meal, high carbohydrate test meal after pre-treatment with rapid acting aspart insulin, high fructose , low glucose test meal with carbohydrate and caloric content similar to the control meal
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- University of Minnesota
Cleft Lip, Congenital Nose Malformation
Fabrication of Sequential Naso-Alveolar Molding Appliances in the Treatment of Cleft Lip/Nose Deformities
There is a robust body of research suggesting that the use of pre-surgical orthopedic devices prior to definitive cleft lip/nose repair results in significant improvement of facial aesthetics with long term follow up.
- Conditions
- Cleft Lip, Congenital Nose Malformation, Deformity, Nose Deformities, Acquired
- Trial name
- NCT04334590
- Testing
- Cleft Lip/Nose Repair without PSIO, Presurgical Infant Orthopedic Therapy
- Where
- United States
- Sponsor
- Johns Hopkins University
Cystic Fibrosis
Modulate-CF: Cystic Fibrosis Transmembrane Regulator (CFTR) Biomarker Study to Evaluate the Rescue of Mutant CFTR in Patients With Cystic Fibrosis Treated With CFTR-modulators
This observational study evaluates the effect of therapy with cystic fibrosis transmembrane regulator (CFTR) modulators on CFTR function measured by the CFTR biomarker intestinal current measurement (ICM), nasal potential…
- Trial name
- Modulate-CF (NCT04732910)
- Testing
- Treatment with cystic fibrosis transmembrane regulator (CFTR) modualtors Ivacaftor, Lumacaftor-Ivacaftor, Tezacaftor-Ivacaftor, Elexacaftor-Tezacaftor-Ivacaftor, Vanzacaftor-Tezacaftor-Deutivacaftor
- Where
- 4 sites in Germany
- Volunteers
- 500 people
- Sponsor
- Charite University, Berlin, Germany
Huntington Disease
Extracellular Vesicles for HD
The primary objective of this study is to discover blood-based biomarker of brain Huntingtin (HTT) protein using extracellular vesicles to be used in evaluating target engagement in HTT lowering clinical trials.
- Trial name
- NCT06082713
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University of Central Florida
Atopic Dermatitis
Monitoring Of Scratch Via Accelerometry In Children
Sleep sensors, wrist worn accelerometers, polysomnography (PSG), and associated data analysis platforms would provide quantitative and qualitative knowledge regarding the action of scratching and sleep quantity in a symptomatic…
- Trial name
- MOSAIC (NCT03873220)
- Testing
- Wrist Actigraphy Devices, Sleep Monitor, Polysomnography
- Where
- United States
- Volunteers
- 62 people
- Sponsor
- Boston University
Myotonic Dystrophy 1
Effects of a 12-week Strength Training Program in Men With Myotonic Dystrophy Type 1
Eleven men with myotonic dystrophy type 1 (DM1) underwent a 12-week lower-limb strength training program. The training program consisted of 3 series of 6 to 8 maximal repetitions of 5 different exercises: Leg extension, leg…
- Trial name
- NCT04018820
- Testing
- Training program
- Where
- Canada
- Volunteers
- 11 people
- Sponsor
- Élise Duchesne
Beta Thalassemia Major
Monitoring of Chimerism After Transplantation in Patients With β Thalassemia Major and the Treatment Strategies for the Reduction of Chimerism
Hematopoietic stem cell transplantation is currently the only way to cure thalassemia, one of its main obstacles is the rejection after transplantation, chimerism continued to decline, which eventually lead to transplant failure.
- Trial name
- NCT03101423
- Testing
- Interleukin-2, Donor Regulatory T-Lymphocytes
- Where
- China
- Volunteers
- 30 people
- Sponsor
- First Affiliated Hospital of Guangxi Medical University
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