Clinical Trials on X-linked Adrenal Hypoplasia Congenita

Total 2190 results

Edimer Pharmaceuticals

Completed

Phenotypic and Genetic Properties in Males at Risk for X-linked Hypohidrotic Ectodermal Dysplasia: Evaluation of an Early Diagnosis Technology and Tests to Assess Nutritional Status (ECP-013)

X-linked Hypohidrotic Ectodermal Dysplasia | Hypohidrotic Ectodermal Dysplasia

United States
Edimer Pharmaceuticals

Completed

Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012) (ECP-012)

X-linked Hypohidrotic Ectodermal Dysplasia | Hypohidrotic Ectodermal Dysplasia

Spain
Astellas Gene Therapies

Completed

A Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM) Subjects (INCEPTUS)

X-linked Myotubular Myopathy

United States, France, United Kingdom, Canada, Germany
University of Florida
Audentes Therapeutics

Completed

Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM)

X-linked Myotubular Myopathy

United States
Newcastle-upon-Tyne Hospitals NHS Trust

Recruiting

Myotubular and Centronuclear Myopathy Patient Registry

X-linked Myotubular Myopathy | Centronuclear Myopathy | Myotubular Myopathy | Myotubular Myopathy 1 | Myotubular (Centronuclear) Myopathy | Centronuclear Myopathy, X-Linked

United Kingdom
James Dowling
Canadian Institutes of Health Research (CIHR); Cures Within Reach; The Joshua... and other collaborators

Recruiting

Tamoxifen Therapy for Myotubular Myopathy (TAM4MTM)

X Linked Myotubular Myopathy

United Kingdom, Canada, United States
Astellas Gene Therapies

Completed

A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM)

Males With X-linked Myotubular Myopathy (XLMTM)

United States, United Kingdom
University Hospital Schleswig-Holstein

Withdrawn

Gene Polymorphisms Influencing Steroid Synthesis and Action

Disorders of Sex Development | Congenital Adrenal Hyperplasia | Adrenal Insufficiency | Congenital Adrenal Hypoplasia | Mineralocorticoid Deficiency | Intersex
Cure CMD
University of Michigan; Congenital Muscle Disease International Registr

Completed

Myotubular Myopathy Event Study (MTMES)

X-linked Myotubular Myopathy

United States
Edimer Pharmaceuticals

Completed

Phase 2 Study to Evaluate Safety, Pharmacokinetics, Immunogenicity and Pharmacodynamics/Efficacy of EDI200 in Male Infants With X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) (ECP-002)

X-Linked Hypohidrotic Ectodermal Dysplasia

United States, United Kingdom, France, Germany, Italy
Edimer Pharmaceuticals

Completed

Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia (ECP-015)

X-Linked Hypohidrotic Ectodermal Dysplasia

United States, United Kingdom, France, Germany, Italy
Edimer Pharmaceuticals

Completed

X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Carrier Outlook Toward Reproduction Survey (X-CORS)

Hypohidrotic Ectodermal Dysplasia | X-Linked Hypohidrotic Ectodermal Dysplasia

United States
Edimer Pharmaceuticals
National Foundation of Ectodermal Dysplasia

Completed

Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical Phenotype (ECP-006)

Hypohidrotic Ectodermal Dysplasia | X-Linked Hypohidrotic Ectodermal Dysplasia

United States
National Eye Institute (NEI)

Active, not recruiting

Study of RS1 Ocular Gene Transfer for X-linked Retinoschisis

Retinoschisis | X-Linked

United States
Edimer Pharmaceuticals

Completed

A Phase 1, Open-label, Multicenter, Safety and Pharmacokinetic Study of EDI200

X-linked Hypohidrotic Ectodermal Dysplasia

United States
University Hospital Erlangen
Edimer Pharmaceuticals

Completed

Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal Dysplasia

X-linked Hypohidrotic Ectodermal Dysplasia

Germany
National Eye Institute (NEI)

Completed

Mothers Experiences With X-linked Retinoschisis Compared to Fathers Experiences

Retinoschisis | X-Linked

United States
National Institutes of Health Clinical Center (CC)
Eunice Kennedy Shriver National Institute of Child Health and Human Development...

Completed

Comparison of Cortisol Pump With Standard Treatment for Congenital Adrenal Hyperplasia

Adrenal Insufficiency | Congenital Adrenal Hyperplasia (CAH) | Excess Androgen

United States
Edimer Pharmaceuticals

Completed

Phenotypic Properties in Individuals Affected With XLHED (ECP-014)

X Linked Hypohidrotic Ectodermal Dysplasia

United States
Neurocrine Biosciences

Completed

Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NBI-74788 in Adults With Congenital Adrenal Hyperplasia

CAH - Congenital Adrenal Hyperplasia

United States
Spruce Biosciences

Completed

Study of SPR001 in Adults With Classic Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia | CAH - Congenital Adrenal Hyperplasia

United States
West China Hospital

Recruiting

Safety and Efficacy of a Single Subretinal Injection of JWK002 Gene Therapy in Subjects With X-linked Retinoschisis(XLRS)

X Linked Retinoschisis

China
University Hospital Erlangen
Pervormance GmbH

Completed

Short Term Effects and Risks of Physical Exercise in Subjects With Hypohidrotic Ectodermal Dysplasia

X-Linked Hypohidrotic Ectodermal Dysplasia | Exercise-induced Rise of Body Temperature

Germany
EspeRare Foundation
Iqvia Pty Ltd; Pierre Fabre Medicament

Recruiting

Intraamniotic Administrations of ER004 to Male Subjects With X-linked Hypohidrotic Ectodermal Dysplasia (EDELIFE)

X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)

United States, Spain, France, Germany, Italy, United Kingdom
Viking Therapeutics, Inc.

Recruiting

A Study to Assess the Pharmacodynamics of VK0214 in Male Subjects With AMN

Adrenomyeloneuropathy Form (AMN) of X-linked Adrenoleukodystrophy (X-ALD)

United States, France, Germany, Italy, United Kingdom
Neurocrine Biosciences

Completed

Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NBI-74788 in Pediatric Subjects With Congenital Adrenal Hyperplasia

CAH - Congenital Adrenal Hyperplasia

United States
Edimer Pharmaceuticals

Active, not recruiting

Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002 (ECP-002e)

X-linked Hypohidrotic Ectodermal Dysplasia

United States, United Kingdom, France, Germany, Italy
Spruce Biosciences

Completed

Study to Evaluate the Safety and Efficacy of SPR001 in Subjects With Classic Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia | CAH - Congenital Adrenal Hyperplasia | CAH - 21-Hydroxylase Deficiency

United States
University of California, Davis
University of Alberta; St. Justine's Hospital

Recruiting

A Trial of Metformin in Individuals With Fragile X Syndrome (Met)

Neurobehavioral Manifestations | Genetic Diseases, X-Linked | Intellectual Disability | Fragile X Syndrome | Sex Chromosome Disorders | Fragile X Mental Retardation Syndrome | Trinucleotide Repeat Expansion | Fra(X) Syndrome | FXS | Mental Retardation, X Linked

United States, Canada
NeuroVia, Inc.

Unknown

A Study to Prospectively Assess Disease Progression in Male Children With X-ALD

X-Linked Adrenoleukodystrophy

United States
Novartis Pharmaceuticals

Terminated

EXPLAIN -FragilE X Registry: An exPlorative Longitudinal Study for chAracterIzation, Treatment Pathways and patieNt-related Outcomes (EXPLAIN)

Fragile-X Syndrome

Germany
Thomas S. Scanlan

Withdrawn

Safety and Pharmacodynamic Study of Sobetirome in X-Linked Adrenoleukodystrophy (X-ALD)

Adrenomyeloneuropathy | X-Linked Adrenoleukodystrophy

United States
State University of New York - Upstate Medical...

Terminated

Genetic Disease Gene Identification

Familial Encephalopathy With Neuroserpin Inclusion Bodies | X-linked Mental Retardation | Congenital Vertical Talus | Idiopathic Generalised Epilepsy | Familial Dementia

United States
Assistance Publique - Hôpitaux de Paris

Completed

Salt Wasting, Hydro-sodium Balance and Fludrocortisone Requirement in Congenital Adrenal Hyperplasia (NaCAH)

Congenital Adrenal Hyperplasia (CAH)

France
Sheba Medical Center
ElMindA Ltd

Recruiting

Brain Network Activation and Gait and Posture in FXTAS (FXTAS-BNA)

Fragile X Associated Tremor-ataxia Syndrome | FXTAS

Israel
Ovid Therapeutics Inc.

Completed

A Study of OV101 in Individuals With Fragile X Syndrome (ROCKET)

Fragile X Syndrome (FXS)

United States
Guido A. Davidzon, MD, SM

Withdrawn

Novel Clinical Target in Fragile X Syndrome

Fragile X Syndrome (FXS)

United States
Tetra Discovery Partners

Completed

A 2-Period Crossover Study of BPN14770 in Adults Males With Fragile X Syndrome

Fragile X Syndrome | Fra(X) Syndrome | FXS

United States
Baylor College of Medicine

Active, not recruiting

Study of Selected X-linked Disorders: Goltz Syndrome

Focal Dermal Hypoplasia (FDH) | Goltz Syndrome

United States
University of Miami
Jackson Health System

No longer available

cliniMACs HUD for T Cell Depletion

x Linked Combined Immunodeficiency

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

Completed

Neurophysiological and Acute Pharmacological Studies in FXS Patients

Fragile X Syndrome

United States
Seaside Therapeutics, Inc.

Completed

Biomarker and DNA Collection in Subjects Participating in Protocol 22003

Fragile X Syndrome

United States
Seaside Therapeutics, Inc.
National Institutes of Health (NIH)

Completed

A Single-Dose Study in Normal Volunteers to Assess the Safety, Tolerability and Pharmacokinetics of STX107

Fragile X Syndrome

United States
Crinetics Pharmaceuticals Inc.

Recruiting

Evaluate the Safety, Efficacy, and Pharmacokinetics of CRN04894 in Participants With Congenital Adrenal Hyperplasia (TouCAHn)

Congenital Adrenal Hyperplasia | Classic Congenital Adrenal Hyperplasia

Brazil, India, United States, Argentina, Italy, United Kingdom
Eunice Kennedy Shriver National Institute of Child...

Active, not recruiting

Three Drug Combination Therapy Versus Conventional Treatment of Children With Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia (CAH)

United States
Hospices Civils de Lyon

Completed

Fertility and Pregnancy in Patients With Classic Congenital Adrenal Hyperplasia (FERTI-HCS)

Classic Congenital Adrenal Hyperplasia

France
Children's Hospital Medical Center, Cincinnati

Recruiting

Tracking Early Emergence of Sound Perception Impairments in FXS With Multimodal fNIRS/EEG

Fragile X Syndrome

United States
Esoterix Genetic Laboratories, LLC

Unknown

Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay

Fragile X Syndrome

United States
Retina Foundation of the Southwest
DSM Nutritional Products, Inc.; Foundation Fighting Blindness

Completed

DHA and X-Linked Retinitis Pigmentosa

Retinitis Pigmentosa | X-linked Genetic Diseases

United States
Marinus Pharmaceuticals
University of California, Davis; U.S. Army Medical Research and Development...

Completed

Ganaxolone Treatment in Children With Fragile X Syndrome

Fragile x Syndrome

Belgium, United States

Clinical Trials on X-linked Adrenal Hypoplasia Congenita

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Estonia

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations