Clinical Trials on Arthrogrypose Multiplex Congenita

Total 16185 results

Glostrup University Hospital, Copenhagen

Unknown

Advanced Characterization of Autosomal Dominant Optic Atrophy

Optic Atrophy, Autosomal Dominant

Denmark
Quoin Pharmaceuticals

Recruiting

Open Label, Safety and Efficacy Study of QRX003 Lotion in Subjects With Netherton Syndrome

Netherton Syndrome

United States
Sixera Pharma

Recruiting

A Study to Evaluate Topically Applied SXR1096 Cream in Patients With Netherton Syndrome

Netherton Syndrome

France
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
Northwestern University
Chicago Run; American Academy of Cerebral Palsy and Developmental Medicine; Spencer...

Enrolling by invitation

Ready, Set, Go! A Physical Fitness Intervention for Children With Mobility Challenges

Cerebral Palsy | Gross Motor Development Delay | Motor Skills Disorders | Myelomeningocele | Arthrogryposis

United States
ProQR Therapeutics

Active, not recruiting

A Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa Due to the P23H Mutation in the RHO Gene (AURORA)

Eye Diseases | Retinitis | Eye Diseases, Hereditary | Retinal Dystrophies | Vision Disorders | Retinal Disease | Autosomal Dominant Retinitis Pigmentosa | Vision Tunnel

United States
Azitra Inc.

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, Finland, Switzerland, Netherlands, Portugal
Great Ormond Street Hospital for Children NHS Foundation...

Unknown

Gene Therapy for Netherton Syndrome

Netherton Syndrome

United Kingdom
IRCCS Policlinico S. Donato
University of Milan

Recruiting

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

Marfan Syndrome | Rare Diseases

Italy
IRCCS Policlinico S. Donato

Recruiting

Transcriptomic Study of Adult Population With Marfan Syndrome (MaRfaNomicA)

Marfan Syndrome | Marfan's Syndrome With Cardiovascular Manifestations

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
Children's Healthcare of Atlanta
Emory University; Brigham and Women's Hospital; University of California, San... and other collaborators

Withdrawn

Genes Mutation Pentalogy of Cantrell

Pentalogy of Cantrell | Mutations in Non-muscle Genes

United States
National Heart Centre Singapore

Unknown

Generation of Marfan Syndrome and Fontan Cardiovascular Models Using Patient-specific Induced Pluripotent Stem Cells

Marfan's Syndrome

Singapore
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
National Cancer Institute (NCI)

Completed

Needs Assessment for Individuals and Families Affected by Dyskeratosis Congenita (DC) and Related Telomere Biology Disorders (TBD)

Dyskeratosis Congenita | Telomere Biology Disorders

United States
Barts & The London NHS Trust
Liverpool Heart and Chest Hospital NHS Foundation Trust; Aortic Dissection...

Not yet recruiting

Mortality and Morbidity Outcomes in Marfans

Marfan Syndrome | Marfan Syndrome Cardiovascular Manifestations
Dermelix Biotherapeutics, LLC.

Withdrawn

A Cross-Sectional Natural History Study to Evaluate Sweat Volume and Other Phenotypic and Genetic Characteristics in Patients Affected by XLHED

XLHED

United States
University of California, San Francisco
National Human Genome Research Institute (NHGRI)

Completed

Clinical Utility of Pediatric Whole Exome Sequencing

Epilepsy | Cerebral Palsy | Intellectual Disability | Developmental Delay | Metabolic Disease | Neuro-Degenerative Disease | Encephalopathy | Birth Defect | Multiple Congenital Anomaly | Developmental Defect

United States
Fondation Ophtalmologique Adolphe de Rothschild
Institut National de la Santé Et de la Recherche Médicale, France

Terminated

Ability of a Molecule (Prima) to Restore Physiological Differentiation in Epithelium Expressing Gene p63 (PRIMAculture)

Ectodermal Dysplasia

France
Oregon Health and Science University

Terminated

Melatonin Levels in Smith Magenis Syndrome (SMS)

Chromosome Disorders

United States
University Hospital, Bordeaux
Fondation Syndrome de Rubinstein-Taybi

Completed

Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial (RUBIVAL)

Rubinstein-Taybi Syndrome

France
Albireo, an Ipsen Company

Recruiting

Long-term Safety and Efficacy of Odevixibat in Patients With Alagille Syndrome (ASSERT-EXT)

Alagille Syndrome

United States, United Kingdom, France, Netherlands, Belgium, Germany, Italy, Malaysia, Poland, Turkey
National Human Genome Research Institute (NHGRI)

Completed

Clinical and Molecular Investigations Into Ciliopathies

Ciliopathy

United States
University Hospital, Bordeaux

Completed

Pathophysiology Analysis of "Costello Syndrome" on Cellular Models (COSTELLO)

Costello Syndrome

France
Barts & The London NHS Trust
Liverpool Heart and Chest Hospital NHS Foundation Trust; Aortic Dissection...

Recruiting

Living With Marfans and Your Aorta: Surgical Outcomes Study (LIMA II)

Marfan Syndrome | Marfan Syndrome Cardiovascular Manifestations

United Kingdom
Forteza, Albert, M.D.
Ministry of Health, Spain

Unknown

Atenolol Versus Losartan in the Prevention of Progressive Dilation of the Aorta in Marfan Syndrome (LO-AT-MARFAN01)

Marfan Syndrome

Spain
Children's Healthcare of Atlanta

Terminated

Prevalence and Clinical Spectrum of the 22q11 Deletion

Congenital Disorders

United States
Assistance Publique - Hôpitaux de Paris

Completed

Clinical Signs and Activity Limitations Associated With Dural Ectasia in Patients With Marfan Disease (MARFANLOMB)

Marfan Syndrome

France
IRCCS Policlinico S. Matteo
Merck Sharp & Dohme LLC; Menarini Group

Unknown

Nebivolol Versus Losartan Versus Nebivolol+Losartan Against Aortic Root Dilation in Genotyped Marfan Patients (MaNeLo)

Marfan Syndrome

Italy
Nemours Children's Clinic

Completed

WREX Outcome Study

Muscular Dystrophy | Spinal Muscular Atrophy | Arthrogryposis
Mirum Pharmaceuticals, Inc.

Recruiting

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

Alagille Syndrome

United States
Albireo

Completed

Efficacy and Safety of Odevixibat in Patients With Alagille Syndrome (ASSERT)

Alagille Syndrome

United States, United Kingdom, France, Germany, Canada, Netherlands, Italy, Malaysia, Belgium, Israel, New Zealand, Poland, Turkey
National Human Genome Research Institute (NHGRI)

Completed

Positional Cloning of the Gene(s) Responsible for Alagille Syndrome

Alagille Syndrome

United States
Near East University, Turkey

Completed

Myoinositol Effect on Asprosin Levels

Pregnancy Related

Cyprus
Hoffmann-La Roche

Completed

A Study To Assess Distribution Of RO7248824 In The Central Nervous System Following Single Intrathecal Doses Of [89zr] Labeled RO7248824 In Healthy Male Participants

Angelman Syndrome

Netherlands
Mirum Pharmaceuticals, Inc.

Completed

An Extension Study to Evaluate the Long-Term Safety and Durability of Effect of LUM001 in the Treatment of Cholestatic Liver Disease in Subjects With Alagille Syndrome (ALGS) (IMAGINE)

Alagille Syndrome

United Kingdom
Mirum Pharmaceuticals, Inc.
Lumena Pharmaceuticals, Inc.; Childhood Liver Disease Research and Education...

Completed

An Extension Study to Evaluate the Long-Term Safety and Durability of Effect of LUM001 in the Treatment of Cholestatic Liver Disease in Pediatric Subjects With Alagille Syndrome (IMAGINE-II)

Alagille Syndrome

United States, Canada
Mirum Pharmaceuticals, Inc.

Completed

Safety and Efficacy Study of LUM001 in the Treatment of Cholestatic Liver Disease in Patients With Alagille Syndrome (IMAGO)

Alagille Syndrome

United Kingdom
Barts & The London NHS Trust
Liverpool Heart and Chest Hospital NHS Foundation Trust; Aortic Dissection...

Completed

Living With Marfan Syndrome and Your Aorta (LIMA I)

Marfan Syndrome | Marfan Syndrome Cardiovascular Manifestations

United Kingdom
University Hospital, Toulouse

Active, not recruiting

Effect on the Quality of Life of a Therapeutic Education Program in Patients With Marfan Syndrome (MYLIFE)

Marfan Syndrome

France
University of Aarhus
Aarhus University Hospital

Completed

Thoracic Aortic Dilatation Syndromes

Marfan Syndrome | Thoracic Aorta Dilatation

Denmark
Fondazione Policlinico Universitario Agostino Gemelli...

Recruiting

Neurovisual Function in CHARGE Syndrome

CHARGE Syndrome

Italy
Masonic Cancer Center, University of Minnesota

Recruiting

Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia

Aplastic Anemia | Dyskeratosis Congenita

United States
Masonic Cancer Center, University of Minnesota

Completed

Stem Cell Transplant (SCT) for Dyskeratosis Congenita or SAA

Aplastic Anemia | Dyskeratosis Congenita

United States

Clinical Trials on Arthrogrypose Multiplex Congenita

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Qatar

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations