Clinical trials: X-Linked
Fragile X Syndrome (FXS), Fragile X Syndrome
Safety, Tolerability, and Preliminary Effectiveness of CTH120 in Fragile X Syndrome
The purpose of this Phase IIa study is to evaluate the safety, tolerability, and effectiveness of CTH120 in adult males with Fragile X syndrome.
- Trial name
- FXS-CTH120-01 (NCT07654114)
- Testing
- CTH120
- Where
- 2 sites in Spain
- Volunteers
- 30 people
- Sponsor
- Connecta Therapeutics, S.L.
Fabry Disease, End Stage Renal Disease
Study of the Prevalence of Fabry Disease in French Dialysis Patients
Fabry Disease (FD) is a rare genetic lysosomal storage disease including an X-linked mutation and characterized by an alpha-galactosidase A (GLA) deficiency.
- Conditions
- Fabry Disease, End Stage Renal Disease, Renal Dialysis
- Trial name
- FABRYDIAL (NCT02843334)
- Testing
- Dried blood spot (DBS) sampling
- Where
- 5 sites in France
- Volunteers
- 6,000 people
- Sponsor
- Hospices Civils de Lyon
Duchenne Muscular Dystrophy
Evaluation of Brain Dysfunction in Patients with Duchene Muscular Dystrophy
To study the cognitive function \& psychiatric aspects of patients with DMD by specific psychometry tests \& its relation to quality of life of the patients To evaluate brain structural changes using MRI and correlate them to the…
- Trial name
- NCT06732011
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- Assiut University
Hemophilia a, Hemophilia B
The Safety and Tolerability of SerpinPC in Healthy Men and in Men with Severe Blood Disorders (haemophilia a and B)
The purpose of this study is to investigate the safety and activity in the body of a new drug called SerpinPC. The study will be split into 7 parts: Part 1a will be conducted in healthy male volunteers in the UK (up to 15) and…
- Trial name
- NCT04073498
- Testing
- SerpinPC
- Where
- 3 sites in Georgia, Moldova and 1 more
- Volunteers
- 39 people, healthy volunteers welcome
- Sponsor
- ApcinteX Ltd
Fabry Disease
A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease
People with Fabry Disease have an alteration in their genetic material (DNA) which causes a deficiency of the alpha-galactosidase A enzyme.
- Trial name
- NCT00081497
- Testing
- agalsidase beta
- Where
- 25 sites in United States, Canada and 4 more
- Volunteers
- 67 people
- Sponsor
- Genzyme, a Sanofi Company
Adeno-Associated Virus (AAV), Blood Coagulation Disorder
Dose-finding Study of SPK-8016 Gene Therapy in Patients With Hemophilia A to Support Evaluation in Individuals With FVIII Inhibitors
SPK-8016 is in development for the treatment of patients with inhibitors to FVIII. This Phase 1/2, open-label, non-randomized, dose-finding study to evaluate the safety, efficacy, and tolerability of SPK-8016 in adult males with…
- Conditions
- Adeno-Associated Virus (AAV), Blood Coagulation Disorder, Blood Coagulation Disorders, Inherited, Coagulation Protein Disorders
- Trial name
- NCT03734588
- Testing
- SPK-8016
- Where
- 11 sites in United States
- Volunteers
- 4 people
- Sponsor
- Spark Therapeutics, Inc.
Fabry Disease
A 12-Week Safety and Pharmacodynamic Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry Disease
Study to evaluate the safety, tolerability, and pharmacodynamics of migalastat hydrochloride (HCl) (migalastat) and how migalastat works in participants with Fabry disease.
- Trial name
- NCT00283959
- Testing
- migalastat HCl
- Where
- 2 sites in Australia, Brazil
- Volunteers
- 4 people
- Sponsor
- Amicus Therapeutics
Muscular Dystrophy, Duchenne
Phase III Study of Edasalonexent in Boys With Duchenne Muscular Dystrophy
The PolarisDMD study is a Phase 3, global study to evaluate the efficacy and safety of edasalonexent in pediatric patients with a genetically confirmed diagnosis of DMD.
- Trial name
- PolarisDMD (NCT03703882)
- Testing
- Edasalonexent
- Where
- 40 sites in United States, Australia and 6 more
- Volunteers
- 131 people
- Sponsor
- Catabasis Pharmaceuticals
Fragile X Syndrome
Cognitive Training for Fragile X Syndrome
Individuals with fragile X syndrome (FXS) demonstrate profound executive function deficits that interfere with learning, socialization and emotion regulation.
- Trial name
- NCT02747394
- Testing
- Working Memory Training
- Where
- United States
- Volunteers
- 106 people
- Sponsor
- University of California, Davis
ALD (Adrenoleukodystrophy), Adrenoleukodystrophy
Adrenoleukodystrophy National Registry Study
The aim of this registry to understand the natural history and disease progression in ALD and potentially develop bio-markers using the biospecimens collected using this registry.
- Conditions
- ALD (Adrenoleukodystrophy), Adrenoleukodystrophy, Cerebral Adrenoleukodystrophy
- Trial name
- NCT03789721
- Testing
- Medical Record Abstraction, Biospecimen Sample Collection
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Carrier of Duchenne Muscular Dystrophy
Myocardial Involvement in Carriers of Duchenne Muscular Dystrophy: An MRI-study
Carriers of Duchenne muscular dystrophy (DMD) often have no severe symptoms of the scelet muscles, but they may develop a poor heart function due to the involvement of the heart muscle.
- Trial name
- NCT01712152
- Where
- Austria
- Volunteers
- 20 people
- Sponsor
- Hospital Rudolfstiftung
Fabry Disease
Alternative Dosing and Regimen of Replagal to Treat Fabry Disease
The main goal of this study is to assess the pharmacodynamic effects of different or more frequent doses of Replagal compared to the standard dosing regimen.
- Trial name
- NCT00075244
- Testing
- Replagal
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Hypohidrotic Ectodermal Dysplasia
Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia - A
The overall purpose of this study is to learn more about Hypohidrotic Ectodermal Dysplasia (HED) and to help in identifying treatment opportunities.
- Trial name
- NCT01293565
- Where
- United States
- Volunteers
- 27 people, healthy volunteers welcome
- Sponsor
- Edimer Pharmaceuticals
Protoporphyria
Effect of Bitopertin on the Liver and on Levels of Protoporphyrin IX in Bile, Blood, Liver, and Stool in Patients With Erythropoietic Protoporphyria/X-linked Protoporphyria and Increased Liver Stiffness and/or Liver Enzymes at Baseline
The primary goal of this study is to assess safety and tolerability of bitopertin in subjects with Erythropoietic Protoporphyria (EPP) or X-linked Protoporphyria (XLP) and evidence of compensated liver disease.
- Trial name
- NCT07123363
- Testing
- bitopertin
- Sponsor
- Wake Forest University Health Sciences
Muscular Dystrophy, Duchenne, Muscular Dystrophies
Phase 3 Study of Ataluren in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
Dystrophinopathy is a disease continuum that includes Duchenne muscular dystrophy, which develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure…
- Conditions
- Muscular Dystrophy, Duchenne, Muscular Dystrophies, Muscular Disorders, Atrophic, Muscular Diseases
- Trial name
- ACT DMD (NCT01826487)
- Testing
- Ataluren
- Where
- 55 sites in United States, Australia and 16 more
- Volunteers
- 230 people
- Sponsor
- PTC Therapeutics
Becker Muscular Dystrophy
Effect of Modulating the nNOS System on Cardiac, Muscular and Cognitive Function in Becker Muscular Dystrophy Patients
This study is done to evaluate whether treatment with the drug sildenafil (Revatio®) can improve muscular, cardiac, cerebrovascular or cognitive function in patients with Beckers muscular dystrophy when compared to placebo…
- Trial name
- NCT01350154
- Testing
- Sildenafil
- Where
- Denmark
- Volunteers
- 17 people
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Fabry Disease
German Observational Multicenter Study of Patients With Fabry Disease Under Chaperone Therapy With Migalastat-HCl.
The objective of the study is to document long term data on treatment with Migalastat under "real world" conditions. The selection of patients is based on the SmPC/Fachinformation. The study duration/patient will be 2 years.
- Trial name
- NCT03135197
- Where
- Germany
- Volunteers
- 75 people
- Sponsor
- University Hospital Muenster
Disorders of Sexual Development
Disorders of Sexual Development and Gonadal Tumor Risk
Disorders of Sexual Development are rare and represent a spectrum of heterogeneous pathologies. The risk of developing a malignant gonadal germ cell tumor (MGCT) exists and varies according to the etiology.
- Trial name
- DEV-GEN-RiTuGo (NCT06682078)
- Testing
- Not applicable . Non-interventional retrospective study, only on datas.
- Where
- France
- Volunteers
- 80 people
- Sponsor
- Hospices Civils de Lyon
Fabry Disease
Aortic Dimensions in Patients With Fabry Disease
We will conduct a retrospective study aiming to define the characteristics, determinants, and progression of ascending aortic dilatation in adults with Fabry disease, using echocardiography and/or cardiac MRI
- Trial name
- DATA-Fab (NCT06956573)
- Testing
- aorta imaging
- Volunteers
- 200 people
- Sponsor
- University Hospital, Caen
Psychoeducation, Parents
Psychoeducation Program for Parents of Children with Duchenne Muscular Dystrophy
Having and caring for a child with disabilities brings emotional, social and economic difficulties for many families. Families may experience many physiological and psychological problems due to the stress and anxiety they…
- Conditions
- Psychoeducation, Parents, Psychological Wellness, Duchenne Muscular Dystrophy
- Trial name
- NCT06412328
- Testing
- Psychoeducation
- Where
- Turkey (Türkiye)
- Volunteers
- 26 people
- Sponsor
- Lokman Hekim University
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