Clinical Trials on Congenital Myasthenic Syndrome

Total 40721 results

University Hospital, Toulouse
MedSharing

Recruiting

A Pilot Study of the Efficacy and Safety of Dupilumab Versus Placebo in Patients With Netherton Syndrome (NS-DUPI)

Netherton Syndrome

France
Children's Hospital of Philadelphia
Novartis Pharmaceuticals

Completed

Safety Study of Elidel (Pimecrolimus) 1% Cream to Treat Netherton Syndrome

Netherton Syndrome

United States
Assistance Publique - Hôpitaux de Paris

Completed

Clinical Trial Using Humira in Netherton Syndrome (AntiTNF-SN)

Netherton Syndrome

France
Boston Scientific Corporation

Completed

ECG Signal Collection From Long QT Syndrome, Wide QRS Complexes, Heart Failure, and Cardiac Resynchronization Patients

Heart Failure | Long QT Syndrome | Wide QRS Complexes | Cardiac Resynchronisation

United Kingdom
Centre Hospitalier Universitaire de Liege
Sanofi; Takeda; University of Liege; Orchard Therapeutics; Centre Hospitalier Régional... and other collaborators

Recruiting

Baby Detect : Genomic Newborn Screening

Congenital Adrenal Hyperplasia | Hemophilia A | Hemophilia B | Mucopolysaccharidosis I | Mucopolysaccharidosis II | Cystic Fibrosis | Alpha 1-Antitrypsin Deficiency | Sickle Cell Disease | Fanconi Anemia | Chronic Granulomatous Disease | Wilson Disease | Severe Congenital Neutropenia | Ornithine Transcarbamylase... and other conditions

Belgium
Children's Healthcare of Atlanta

Terminated

Infection in DiGeorge Following CHD Surgery

DiGeorge Syndrome | Congenital Heart Defects

United States
IRCCS Policlinico S. Donato
University of Milan

Recruiting

Marfan Syndrome (MFS) and Facial Dysmorphism: Non-invasive 3D Assessment (FACE)

Marfan Syndrome | Rare Diseases

Italy
Shriners Hospitals for Children
The University of Texas Health Science Center, Houston; Oregon Health and Science... and other collaborators

Unknown

Development of a Blood Test for Marfan Syndrome

Marfan Syndrome | Marfan Related Disorders | Control Subjects

United States
Universitaire Ziekenhuizen KU Leuven

Unknown

Structural Orbital Changes in Anophthalmic Socket Syndrome

Anophthalmos; Acquired | Anophthalmic Socket Syndrome

Belgium
Stephan Eliez

Recruiting

Using Transcranial Alternating Current Stimulation to Improve Executive Function in 22q11.2 Deletion Syndrome

tACS | 22Q11 Deletion Syndrome

Switzerland
Zynerba Pharmaceuticals, Inc.

Completed

Open-Label Study of ZYN002 Administered as a Transdermal Gel to Children and Adolescents With 22q11.2 Deletion Syndrome (INSPIRE)

22Q Deletion Syndrome

United States, Australia
National Institute of Mental Health (NIMH)

Completed

Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study

DiGeorge Syndrome | Velocardiofacial Syndrome | 22q11.2 Syndrome

United States
Azitra Inc.

Not yet recruiting

Evaluation of Topical ATR12-351 in Adults With Netherton Syndrome

Netherton Syndrome

United States
Daiichi Sankyo

Recruiting

A Study to Explore Safety, Pharmacokinetics, and Early Clinical Signal of Efficacy of DS-2325a in Patients With Netherton Syndrome

Netherton Syndrome

France
Boehringer Ingelheim

Not yet recruiting

Natural History of Netherton Syndrome

Netherton Syndrome
Boehringer Ingelheim

Recruiting

A Study to Test Whether Spesolimab Helps People With a Skin Disease Called Netherton Syndrome

Netherton Syndrome

Belgium, United Kingdom, Australia, Germany, China, Malaysia, United States, Japan, France, Israel, Bulgaria, Italy, Switzerland, Netherlands, Portugal
Great Ormond Street Hospital for Children NHS Foundation...

Unknown

Gene Therapy for Netherton Syndrome

Netherton Syndrome

United Kingdom
The Hospital for Sick Children

Withdrawn

Positive Pressure Ventilation and Sternal Closure in HLHS

Hypoplastic Left Heart Syndrome

Canada
National Human Genome Research Institute (NHGRI)

Completed

Dose Finding Trial of MK-7075 in Children and Adults With Proteus Syndrome

Proteus Syndrome

United States
Novartis Pharmaceuticals

Completed

This Study Will Evaluate Efficacy and Safety of Deferasirox in Patients With Myelodysplastic Syndromes (MDS), Thalassemia and Rare Anemia Types Having Transfusion-induced Iron Overload.

Myelodysplastic Syndrome | Thalassemia

Russian Federation
Association pour le Développement et l'Organisation...

Not yet recruiting

Prevalence of Rest Dyspnea and Impact of Non Invasive Ventilation on Breathing Sensations in CCHS Patients (DyspnOndine)

Dyspnea | Congenital Central Hypoventilation Syndrome | CCHS

France
National Human Genome Research Institute (NHGRI)

Completed

Genetic Analysis of Craniofrontonasal Syndrome

Craniofrontonasal Syndrome | CFNS

United States
National Heart, Lung, and Blood Institute (NHLBI)

Completed

Epidemiology of Persistent Pulmonary Hypertension of the Newborn - SCOR in Lung Biology and Diseases in Infants and Children

Heart Diseases | Cardiovascular Diseases | Lung Diseases | Persistent Fetal Circulation Syndrome | Defect, Congenital Heart
University of Michigan
Chiesi Farmaceutici S.p.A.

Terminated

Cold Heart Study: A Randomized Pilot Trial of Surfactant Therapy

Congenital Heart Disease | Hypoplastic Left Heart Syndrome

United States
National Human Genome Research Institute (NHGRI)

Recruiting

MK-7075 (Miransertib) in Proteus Syndrome

Proteus Syndrome

United States
Children's Hospital of Philadelphia
National Heart, Lung, and Blood Institute (NHLBI)

Active, not recruiting

Cerebral Anatomy, Hemodynamics and Metabolism

Hypoplastic Left Heart Syndrome

United States
University of Alberta
Women and Children's Health Research Institute, Canada

Completed

Prophylactic Peritoneal Dialysis Decreases Time to Achieve a Negative Fluid Balance After the Norwood Procedure

Hypoplastic Left Heart Syndrome

Canada
University Hospital, Toulouse

Recruiting

Constitution of a Biological Collection to Study the Pathophysiology in Noonan Syndrome (Noonan)

Noonan Syndrome

France
University Hospital, Toulouse

Completed

Treatment With HMG-COA Reductase Inhibitor of Growth and Bone Abnormalities in Children With Noonan Syndrome (RASTAT)

Noonan Syndrome

France
Sanofi

Completed

Effect of MAXOMAT ® on the Growth of Small Children to NOONAN's Syndrome

Noonan Syndrome

France
Institut National de la Santé Et de la Recherche...

Unknown

Natural History and Biological Study of Netherton Syndrome (NSnatbio)

Healthy | Netherton Syndrome

France
Boston Children's Hospital
Litron Laboratories

Completed

Defining Immunodeficiency in Heterotaxy Syndrome: Pilot Study Data

Heterotaxy Syndrome

United States
Memorial Sloan Kettering Cancer Center
Pediatric Brain Tumor Consortium

Terminated

A Study of the Effect of Blood Stem Cell Transplant After Chemotherapy Alone in Patients With Fanconi Anemia

Fanconi Anemia | Myelodysplastic Syndrome (MDS) | Acute Myelogenous Leukemia (AML)

United States
National Eye Institute (NEI)

Terminated

Sunitinib Malate to Treat Advanced Eye Disease in Patients With Von Hippel-Lindau Syndrome (VHL3)

Von Hippel-Lindau Syndrome

United States
National Eye Institute (NEI)

Completed

Ranibizumab Injections to Treat Retinal Tumors in Patients With Von Hippel-Lindau Syndrome

Von Hippel-Lindau Syndrome

United States
Assistance Publique - Hôpitaux de Paris
Ministry of Health, France

Not yet recruiting

Cardiac Resynchronization Therapy in Adult Congenital Heart Disease With Systemic Right Ventricle: RIGHT-CRT (RIGHT-CRT)

Congenital Heart Disease | Transposition of Great Vessels | Congenitally Corrected Transposition of the Great Arteries | Systemic Right Ventricle | Heart Failure Congenital

France
University of Utah

Withdrawn

Tools for the Objective Clinical Assessment of Pediatric Spinal Deformity

Thoracic Insufficiency Syndrome | TIS

United States
Longeveron Inc.

Active, not recruiting

Lomecel-B Delivered During Stage II Surgery for Hypoplastic Left Heart Syndrome (ELPIS) (ELPIS)

HLHS

United States
Beijing Anzhen Hospital

Recruiting

Cardiovascular Response to Maternal Hyperoxygenation in Fetal Congenital Heart Disease

Hypoplastic Left Heart Syndrome | Aortic Coarctation | Atrial Septal Aneurysm

China
Children's Hospital of Eastern Ontario
The Physicians' Services Incorporated Foundation

Completed

Impacting Children's Physical and Mental Health Through Kinesiology Support in Clinical Care

Cerebral Palsy | Neuromuscular Diseases | Chronic Pain | Physical Disability | Concussion Post Syndrome | Congenital Heart Defect

Canada
University Hospital, Tours

Completed

French National Cohort of Children With Port Wine Stain (CONAPE)

Port Wine Stain | Parkes Weber Syndrome | Klippel Trenaunay Syndrome

France
Massachusetts General Hospital
Boston University; Mayo Clinic; Beth Israel Deaconess Medical Center; The Cleveland... and other collaborators

Terminated

A Registry to Determine the Clinical and Genetic Risk Factors for Torsade De Pointes (BA-TdP)

Long qt Syndrome | Torsade de Pointes

United States
National Heart, Lung, and Blood Institute (NHLBI)

Completed

Linkage Study of Long QT Syndrome In An Amish Kindred

Heart Diseases | Cardiovascular Diseases | Ventricular Fibrillation | Tachycardia, Ventricular | Long QT Syndrome
Insmed Incorporated

Terminated

Research Study Using Recombinant Human Insulin-Like Growth Factor-1/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 for Children With Noonan Syndrome

Noonan Syndrome

United States
National Center for Research Resources (NCRR)
University of California, San Diego

Completed

Evaluation of Fanconi Syndrome and Cystinosis

Fanconi Syndrome | Cystinosis
Medisch Spectrum Twente
Medical School Medisch Spectrum Twente; Techmed University of Twente; Erasmus...

Recruiting

Coeliac Artery Release or Sham Operation (CARoSO)

Mesenteric Ischemia | Median Arcuate Ligament Syndrome | Dunbar Syndrome | Coeliac Artery Compression | Celiac Artery Compression Syndrome

Netherlands
Institut Jerome Lejeune
Fondation Jérôme Lejeune

Completed

Down Syndrome and Continuous Positive Pressure Therapy (Morphee)

Obstructive Sleep Apnea Syndrome | Down Syndrome

France
Enzyvant Therapeutics GmBH
National Institute of Allergy and Infectious Diseases (NIAID); Eunice Kennedy... and other collaborators

Completed

Parathyroid and Thymus Transplantation in DiGeorge #931

DiGeorge Syndrome | Hypoparathyroidism | Complete DiGeorge Syndrome

United States
Duke University
National Institute of Mental Health (NIMH); University of Pittsburgh; Harvard...

Completed

Cognitive Remediation in 22q11DS

22q11.2 Deletion Syndrome | Velo-Cardio-Facial Syndrome

United States
Hôpital le Vinatier

Recruiting

Arithmetic Abilities in Children With 22q11.2DS (ARITH22)

22q11.2 Deletion Syndrome

France

Clinical Trials on Congenital Myasthenic Syndrome

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