Clinical trials: Congenital Diseases
Duchenne Muscular Dystrophy
Prognostic Factors Affecting Duchenne Muscular Dystrophy
Determination of prognostic factors affecting ambulation of duchenne muscular dystrophy
- Trial name
- NCT03372655
- Volunteers
- 82 people
- Sponsor
- Assiut University
Usher Syndromes
Natural History Study of Usher Syndrome ( Light4Deaf )
Clinical centres in the LIGHT4DEAF consortium have developed and will continue to improve a reliable, early molecular diagnosis and protocols for full clinical characterisation of Usher syndrome, which will be valuable for the…
- Trial name
- Light4Deaf (NCT04665726)
- Where
- 4 sites in France
- Volunteers
- 400 people
- Sponsor
- Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
Anorectal Malformation
Urodynamic Evaluation in Patients With Anorectal Malformation According to Spinal Cord Abnormalities
This study will examine the effects of spinal cord abnormalities on perioperative neurovesical dysfunction in patients with anorectal abnormalities.
- Trial name
- NCT00909415
- Where
- South Korea
- Volunteers
- 53 people
- Sponsor
- Yonsei University
Severe Combined Immunodeficiency, Atypical
Generalized Neonatal Screening of Severe Combined Immunodeficiencies
Severe combined Immunodeficiencies ( SCID ) are a group of inherited diseases of the immune system by characterised profound abnormalities of T cell development .
- Trial name
- DEPISTREC (NCT02244450)
- Testing
- SCID screening
- Where
- 51 sites in France
- Volunteers
- 190,539 people, healthy volunteers welcome
- Sponsor
- Nantes University Hospital
Tourette Syndrome, Cannabis
The Effect of Medical Cannabis on Tics, Premonitory Urge and Psychiatric Comorbidity in Adults With Tourette Syndrome
Medical cannabis (MC) is a standard treatment in Israel to adults with resistant Gilles de la Tourette syndrome (GTS). While small randomized control trials assessed THC efficacy on tics and premonitory urge, only small…
- Trial name
- NCT05115318
- Testing
- Medical Cannabis
- Where
- Israel
- Volunteers
- 18 people
- Sponsor
- Tel-Aviv Sourasky Medical Center
Myelomeningocele
Risk Factors Associated With Spontaneous Preterm Delivery Status Post Open Fetal Myelomeningocele Repair
This is a chart review of all patients who have underwent open prenatal repair of fetal myelomeningocele. Although prenatal repair is associated with improved neurologic outcomes and a decreased need for cerebrospinal fluid…
- Trial name
- NCT03073382
- Testing
- Chart review
- Volunteers
- 56 people
- Sponsor
- University of Nebraska
Von Willebrand Disease, Type 3
A Study to Assess the Efficacy and Safety of Emicizumab in Participants With Type 3 Von Willebrand Disease
This is a Phase III, multicenter, open-label clinical study designed to evaluate the efficacy, safety, pharmacokinetics, and pharmacodynamics of emicizumab prophylaxis in participants aged 1 month and above, who have been…
- Trial name
- WILL-EMI (NCT06998524)
- Testing
- Emicizumab, von Willebrand Factor (VWF) Concentrates, Factor VIII (FVIII) Concentrates
- Where
- 29 sites in United States, Belgium and 12 more
- Volunteers
- 75 people
- Sponsor
- Hoffmann-La Roche
Leber's Hereditary Optic Neuropathy
Safety Study of an Adeno-associated Virus Vector for Gene Therapy of Leber's Hereditary Optic Neuropathy
The study is a dose-escalation study, phase 1. The objective of this proposed clinical trial is to evaluate the safety of mitochondrially targeted ND4 gene therapy with the adeno-associated viral vector in appropriate LHON…
- Trial name
- LHON (NCT02161380)
- Testing
- injection of scAAV2-P1ND4v2 1.18x10e9 vg (Low),, injection of scAAV2-P1ND4v2 5.81 X10e9 vg (Med), injection of scAAV2-P1ND4v2 2.4 X10e10vg (High)
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- Byron Lam
Congenital Hyperinsulinism
Lanreotide Autogel Treatment of Patients With Congenital Hyperinsulinism of Infancy
The purpose of our study is to evaluate the efficacy and safety of Lanreotide Autogel in children with congenital hyperinsulinism already treated with Octreotide by pump.
- Trial name
- NCT01070758
- Testing
- Lanreotide autogel
- Where
- Israel
- Volunteers
- 3 people
- Sponsor
- Sheba Medical Center
Fetal Anomaly
Machine Learning-based Anomaly Recognition System
MARS is an artificial intelligence-powered system that aims at detecting common fetal anomalies during real-time obstetrics ultrasound.
- Trial name
- MARS (NCT04897178)
- Testing
- Ultrasound
- Where
- 2 sites in Egypt
- Volunteers
- 1,000 people
- Sponsor
- Assiut University
Infant, Premature, Diseases, Fatty Acid Deficiency
Prospective Evaluation in Older Premature, Untreated Breast Milk and Milk Processed by the Breast-milk Bank
The purpose of this study is to evaluate the impact of the enteral nutrition type (untreated breast milk, or breast milk processed by the breast-milk bank) on the longitudinal evolution of the total content and plasma profile of…
- Trial name
- ADiLL (NCT01626508)
- Where
- 2 sites in France
- Volunteers
- 9 people
- Sponsor
- Centre Hospitalier Universitaire Dijon
Bronchopulmonary Dysplasia
Multidimensional Phenotype Classification in Grade 3 Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia (BPD), or chronic lung disease of prematurity, is the most consequential complication of preterm birth and is strong predictor of childhood pulmonary and neurodevelopmental disability, particularly in…
- Trial name
- NCT06475976
- Testing
- Chest computed tomography (CT) with angiography, Bronchoscopy with bronchoalveolar lavage, Echocardiography
- Where
- United States
- Volunteers
- 130 people
- Sponsor
- Children's Hospital of Philadelphia
Cystic Fibrosis
Testing Drug Efficacy in Cystic Fibrosis Through N-of-1 Trials
The purpose of this study is to validate and utilize a personalized medicine approach to identify potential treatments with current FDA approved CFTR modifiers for non-approved CF gene mutations.
- Trial name
- Nof1 (NCT04580368)
- Testing
- CFTR Modulators
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Diamond Blackfan Anemia, Dyskeratosis Congenita
Cancer in Inherited Bone Marrow Failure Syndromes
Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders.
- Conditions
- Diamond Blackfan Anemia, Dyskeratosis Congenita, Fanconi Anemia, Shwachman Diamond Syndrome
- Trial name
- NCT00027274
- Where
- 2 sites in United States
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Azithromycin Adverse Reaction, Covid19
The Effect of Azithromycin Use on Conduction System of Heart in COVID-19 Positive Children
Azithromycin (AZ) is used in the pediatric group in COVID-19 diseas. It has been reported to cause prolongation in the QT interval in adult age group.
- Conditions
- Azithromycin Adverse Reaction, Covid19, Long QT Syndrome
- Trial name
- NCT04699097
- Testing
- Azithromycin
- Where
- Turkey (Türkiye)
- Volunteers
- 105 people
- Sponsor
- Kayseri City Hospital
Neonatal Disorder
Design of a Non-invasive Multi-modal Neonatal Monitoring System
This is a preliminary study whose objectives are to define the clinical use cases and the constraints of the implementation of a multi-sensor image-sound system.
- Trial name
- VARI-NEONAT (NCT03270410)
- Testing
- Data collection
- Where
- France
- Volunteers
- 35 people
- Sponsor
- Rennes University Hospital
Graves Ophthalmopathy
Thyroid Treatment Trial
This project will compare the efficacy and safety of 2 methods of disease modification in the treatment of active moderate and severe thyroid orbitopathy.
- Trial name
- NCT00348413
- Where
- Singapore
- Volunteers
- 80 people
- Sponsor
- Singapore National Eye Centre
Marfan Syndrome
Children and Adolescents With Marfan Syndrome: 10,000 Healthy Steps and Beyond
Marfan patients are at risk of sudden death due to weakening of the wall of the large blood vessel leading from the heart (aorta).
- Trial name
- NCT03567460
- Testing
- Exercise
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Stanford University
Sarcoidosis, Arrhythmogenic Right Ventricular Cardiomyopathy
PET-detected Myocardial Inflammation is a Characteristic of Cardiac Sarcoid But Not of ARVC
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare condition in which the heart muscle cells especially of the main pumping chamber (the 'ventricle') is replaced by fat and scar tissue.
- Trial name
- NCT02989480
- Testing
- PET CT, Cardiac MRI
- Where
- United Kingdom
- Volunteers
- 20 people
- Sponsor
- University of Aberdeen
Cerebrovascular Disease, Ischemic Stroke
Florida Cerebrovascular Disease Biorepository and Genomics Center
The purpose of this study is to create a state-wide biorepository and resource center for cerebrovascular diseases in Florida, which will include collecting medical history information and blood from subjects affected by…
- Conditions
- Cerebrovascular Disease, Ischemic Stroke, Transient Ischemic Attack, Intracerebral Hemorrhage
- Trial name
- NCT05491980
- Where
- United States
- Volunteers
- 72 people
- Sponsor
- Mayo Clinic
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