Search clinical trials for: Congenital Myasthenic Syndrome

Total 44400 results

GCS Ramsay Santé pour l'Enseignement et la Recherche

Not yet recruiting

Evaluation of the Effects of Cross Linking on the Biomechanical Characteristics of Skin Samples From Patients With Classic or Hypermobile Ehlers-Danlos Syndrome (SEDSKIN)

Ehlers-Danlos Syndrome

France
Centre Hospitalier Sud Francilien

Not yet recruiting

Infectious and Non-infectious Lower Respiratory Diseases in Children With Down Syndrome Followed in Pediatric Pulmonology Consultations in Ile-de-France (ARBT21)

Down Syndrome

France
Craig Erickson
Healx Limited

Recruiting

Placebo-Controlled, Single-Dose Challenge Study of Gaboxadol in Adult Males With Fragile X Syndrome (FXS)

Fragile X Syndrome

United States
Meyer Children's Hospital IRCCS

Recruiting

Immunodeficiency and Cancer: Identification of Congenital Immune System Defects Underlying Paediatric Lymphomas

Immune Deficiency

Italy
Maastricht University Medical Center

Recruiting

Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling

Quality of Life | Tuberous Sclerosis | Basal Cell Nevus Syndrome | Cutis Laxa | Epidermolysis Bullosa | Ichthyosis | Ectodermal Dysplasia | Albinism | Birt-Hogg-Dube Syndrome | Palmoplantar Keratoses

Netherlands
Fondazione Policlinico Universitario Agostino Gemelli...

Recruiting

Effect of RAS/MAPK Pathway Hyperactivation on Growth' and Bone' Profile of the RASopathies (3776)

Noonan Syndrome | Costello Syndrome | RASopathy | Cardio-Facio-Cutaneous Syndrome

Italy
ENCell

Recruiting

Evaluate the Safety and Efficacy of EN001 in Patients With Charcot-Marie-Tooth Disease Type 1A

Charcot-Marie-Tooth Disease Type 1A

Korea, Republic of
Copka Sonpashan

Not yet recruiting

Effect of Oral Feeding in Infants With Pierre Robin Syndrome

Pierre Robin Syndrome
University Health Network, Toronto

Not yet recruiting

RCT of Gut-directed Hypnotherapy in Ehlers-Danlos Syndromes and Generalized Hypermobility Spectrum Disorders

Irritable Bowel Syndrome | Gastrointestinal Dysfunction | Ehlers-Danlos Syndrome | Hypermobility Syndrome

Canada
University of Aarhus
Aarhus University Hospital

Recruiting

Lymphedema, Low-grade Inflammation and the Vasculature in Turner Syndrome (TSCOR_V)

Cardiovascular Diseases | Inflammation | Lymphedema | Turner Syndrome

Denmark
Qilu Hospital of Shandong University

Recruiting

Clemastine Fumarate in the Treatment of Neurodevelopmental Delays in Williams Syndrome

Child | Williams Syndrome | Neurodevelopmental Delay

China
Peking Union Medical College Hospital

Recruiting

Anesthesia Neurodevelopmental Impact in Congenital Scoliosis Children

General Anesthetics Toxicity

China
University of California, Los Angeles

Recruiting

Remote Assessment and Intervention for Behavior Problems in Kids With TSC (RAINBOW)

Tuberous Sclerosis

United States
John Elfar

Not yet recruiting

4AP to Delay Carpal Tunnel Release (CTR) (CTR)

Carpal Tunnel Syndrome | Compression Neuropathy
Lise Aksglæde

Not yet recruiting

Klinefelter Syndrome and Testosterone Treatment in Puberty (TiPY)

Klinefelter Syndrome
Istituto Auxologico Italiano

Recruiting

Evaluation of the Psychological Profile of Adult Patients With Prader-Willi Syndrome (PROPSICOPWS)

Prader-Willi Syndrome

Italy
IRCCS Fondazione Stella Maris

Recruiting

Optical Imaging as a Tool for Monitoring Brain Function in Fragile X Syndrome

Fragile X Syndrome

Italy
Specila hospital for cerebral palsy and developmental...
FRAXA Research Foundation

Recruiting

Probiotic Intervention for Microbiome Modifications and Clinical Improvements in Fragile X Syndrome

Fragile X Syndrome

Serbia
Perha Pharmaceuticals
Göteborg University; Proteas Bioanalytics

Recruiting

Phosphoproteomic Profile of Children With Down Syndrome (PEPS)

Down Syndrome

France
University Hospital, Toulouse

Not yet recruiting

Adolescent Projections During Transition in Prader-Willi Syndrome (APT-WILL)

Prader-Willi Syndrome

France
Calliditas Therapeutics AB

Recruiting

A Study to Evaluate Setanaxib in Patients With Alport Syndrome

Alport Syndrome

United Kingdom, Spain, Czechia
Zeng Changhao

Recruiting

Effect of Oral Feeding in Infants With Pierre Robin Syndrome

Pierre Robin Syndrome

Taiwan
Radboud University Medical Center

Recruiting

Lymphatic Phenotype in Noonan Syndrome Spectrum Disorders (LENS)

Lymphatic Diseases | Noonan Syndrome | Lymphatic Disease | Lymphatic System Disorders Congenital

Netherlands
Ain Shams University

Recruiting

Wolf-Parkinson-White Syndrome and Asymptomatic Pre-excitation in Africa (a Multicenter WPW African Registry)

Wolf Parkinson White Syndrome | Arrythmias

Egypt
Université de Sherbrooke
Canadian Institutes of Health Research (CIHR); Centre de recherche du Centre... and other collaborators

Not yet recruiting

Effect of CANnabidiol on Anxiety and GABAergic Function in Individuals With Fragile-X Syndrome (CANAX)

Fragile X Syndrome
Université de Sherbrooke
Canadian Institutes of Health Research (CIHR); Centre de recherche du Centre... and other collaborators

Not yet recruiting

Effect of CBD on the Brain

Fragile X Syndrome
University Hospital, Antwerp
University Hospital, Ghent

Recruiting

Genome-wide Epistasis for Cardiovascular Severity in Marfan Study (GEMS)

Marfan Syndrome | FBN1 Mutation

Belgium
Mayo Clinic

Recruiting

Gut Microbiome Studies in Patients With POEMS Syndrome and Other Plasma Cell Disorders (Microbiome)

Plasma Cell Disorders

United States
Rolfs Consulting und Verwaltungs-GmbH (RCV)
Rhythm Pharmaceuticals, Inc.

Recruiting

Early Genetic Identification of Obesity (WEGIO)

Cognitive Impairment | Hyperphagia | Obesity, Childhood | Bardet-Biedl Syndrome | Polydactyly | Retinopathy | Syndactyly | POMC Deficiency

Germany
Centre Hospitalier Universitaire de Liege
Centre Hospitalier Régional de la Citadelle; SYSNAV

Recruiting

Natural History Study for Patients With Angelman Syndrome (NatHisAngelman)

Angelman Syndrome

Belgium
Children's Hospital Medical Center, Cincinnati
Eunice Kennedy Shriver National Institute of Child Health and Human Development...

Recruiting

Alpha Auditory Entrainment for Cognitive Enhancement and Sensory Hypersensitivity in Youth With Developmental Disorders (ENTRAIN)

Autism Spectrum Disorder | Autistic Disorder | Fragile X Syndrome | Asperger Syndrome

United States
Nanjing University School of Medicine

Recruiting

Effects of Dapagliflozin on Progression of Alport Syndrome

Alport Syndrome

China
Samsung Medical Center

Not yet recruiting

Evaluate the Safety and Potential Efficacy of Human Wharton's Jelly-derived Mesenchymal Stem Cells With Charcot-Marie-Tooth Disease Type 1E

Charcot-Marie-Tooth Disease, Type 1
Boston University Charles River Campus
Boston Children's Hospital

Not yet recruiting

Harness-based Mobility Intervention for Infants With Down Syndrome

Down Syndrome

United States
Assistance Publique - Hôpitaux de Paris

Not yet recruiting

Early-goal Directed Automated Red Blood Cell Exchange for Acute Chest Syndrome in Sickle Cell Disease (ARCAD)

Acute Chest Syndrome

France
Richard Frye
Autism Discovery and Treatment Foundation

Recruiting

Patterns of Neurodevelopmental Disorders

Epilepsy | Neurodevelopmental Disorders | Autism Spectrum Disorder | Down Syndrome | Mitochondrial Encephalomyopathies | Pediatric Acute-Onset Neuropsychiatric Syndrome | Cerebral Folate Deficiency | Pediatric Autoimmune Neuropsychiatric Disorder Associated With Streptococcal Infection

United States
Hospital Universitari Vall d'Hebron Research Institute
Erasme University Hospital; Cyprus Institute of Neurology and Genetics; EuroBloodNet...

Recruiting

RADeep Multicenter European Epidemiological Platform for Patients Diagnosed With Rare Anemia Disorders (RADs) (RADeep)

Iron Metabolism Disorders | Sickle Cell Disease | Thalassemia | Hemolytic; Anemia, Hereditary, Due to Enzyme Disorder | Anemia Due to Membrane Defect | CDA | Sideroblastic Anemia | Constitutional Aplastic Anemia | Hereditary Anemia

Spain
Perha Pharmaceuticals
Fondation Jérôme Lejeune; European Innovation Council; France 2030 program

Recruiting

Leucettinib-21 First-in-Human Phase 1 in Healthy Volunteers and Subjects With Down Syndrome and Alzheimer's Disease (LEUCETTA)

Healthy Volunteers | Down Syndrome | Alzheimer's Disease

France
Academisch Medisch Centrum - Universiteit van Amsterdam...

Not yet recruiting

N-of-1 in ATS and MEPPC

Andersen Tawil Syndrome | Multifocal Ectopic Purkinje-related Premature Contractions
University Hospital, Strasbourg, France

Recruiting

Identification of Y Chromosome From Free Circulating DNA in Patients With Turner Syndrome (Turner-Ylc)

Turner Syndrome

France
New York Stem Cell Foundation Research Institute
Charcot-Marie-Tooth Association

Recruiting

Charcot-Marie-Tooth Disease (CMT) Biological Sample Collection for iPSC Generation and Biobanking

Healthy | Charcot-Marie-Tooth Disease

United States
University College Cork

Not yet recruiting

Assessment of Diastolic Function During the Transitional Period and Infancy Using Serial Echocardiography (DiFuSE)

Gestational Diabetes | Neonatal Encephalopathy | Diastolic Dysfunction | Trisomy 21 | Transient Tachypnea of the Newborn | Small for Gestational Age at Delivery

Ireland
Xuanwu Hospital, Beijing
Chinese PLA General Hospital; The First Hospital of Hebei Medical University; Chifeng Municipal Hospital and other collaborators

Not yet recruiting

A Randomized Controlled Trial for Surgical Treatment of Recurrent Adult Tethered Cord Syndrome

Recurrent Adult Tethered Cord Syndrome

China
University of Seville

Recruiting

The Coping With and Caring for Infants With Special Needs Intervention in Down Syndrome Infants

Down Syndrome | Physical Disability | Family

Spain
IRCCS San Raffaele
Università Vita-Salute San Raffaele

Recruiting

Mechanisms of Somatic Mutation and Tumor Initiation in Pre-malignant Kidney Tubule Cells (SoMuKT)

Carcinoma, Renal Cell | Von Hippel-Lindau Disease

Italy
IRCCS San Raffaele

Recruiting

Overtaking Intra and Inter Tumoral Heterogeneity In Von Hippel-Lindau Related Renal Cancer (ITHORinVHL)

Clear Cell Renal Cell Carcinoma | VHL Syndrome

Italy
Mirum Pharmaceuticals, Inc.

Recruiting

Long-Term Safety and Clinical Outcomes of Livmarli in Patients With Alagille Syndrome (LEAP) (LEAP)

Alagille Syndrome

United States
McGill University Health Centre/Research Institute...
Canadian Institutes of Health Research (CIHR)

Recruiting

Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder (ZSDvision)

Zellweger Spectrum Disorder

Canada
Azienda Ospedaliero-Universitaria di Modena

Recruiting

Role of Cardiac AngioMR in Diagnosis of Cardiac and Vascular Anomalies in Adult Patients With Turner Syndrome

Turner Syndrome | Anomaly Heart

Italy
ACADIA Pharmaceuticals Inc.

Recruiting

Study of Carbetocin Nasal Spray for the Treatment of Hyperphagia in Prader-Willi Syndrome

Hyperphagia in Prader-Willi Syndrome

United States, Canada, United Kingdom

Search clinical trials for: Congenital Myasthenic Syndrome

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Ecuador

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations