Clinical trials: X-Linked
Duchenne Muscular Dystrophy
A Study to Assess Dystrophin Levels in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
This study is designed to evaluate the ability of ataluren to increase dystrophin protein levels in muscle cells of participants with nmDMD.
- Trial name
- NCT03648827
- Testing
- Ataluren
- Where
- 9 sites in United States
- Volunteers
- 20 people
- Sponsor
- PTC Therapeutics
Urea Cycle Disorders, Carbamoylphosphate Synthetase I Deficiency
Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders
Urea cycle disorders are rare inherited diseases that generally have a poor outcome. In this study, neonates and infants with UCD will be included within the first 3 months of life and will be treated by repetitive application of…
- Conditions
- Urea Cycle Disorders, Carbamoylphosphate Synthetase I Deficiency, Ornithine Transcarbamylase Deficiency, Citrullinemia
- Trial name
- NCT00718627
- Testing
- Human Heterologous Liver Cells
- Where
- 2 sites in Germany
- Volunteers
- 12 people
- Sponsor
- Cytonet GmbH & Co. KG
Fructose Metabolism, Inborn Errors, Glycogen Storage Disease
Biomarker for Glycogen Storage Diseases (BioGlycogen)
Development of a new MS-based biomarker for the early and sensitive diagnosis of Glycogen Storage Diseases from plasma. Testing for clinical robustness, specificity and long-term stability of the biomarker.
- Conditions
- Fructose Metabolism, Inborn Errors, Glycogen Storage Disease, Glycogen Storage Disease Type I, Glycogen Storage Disease Type II
- Trial name
- BioGlycogen (NCT02385162)
- Where
- 4 sites in Germany, India and 1 more
- Sponsor
- CENTOGENE GmbH Rostock
Fragile X Syndrome (FXS), Autism Spectrum Disorder (ASD)
A Study to Investigate the Effects and Safety of Codabakalner for the Treatment of FXS in Male Participants and Adult Participants With ADS
This is a Study to Investigate the Effects and Safety of Codabakalner for the Treatment of Fragile X Syndrome in Male Participants and Adult Participants with Autism Spectrum Disorders
- Trial name
- NCT07439510
- Testing
- Codabakalner
- Volunteers
- 120 people
- Sponsor
- Spinogenix
Fabry Disease
Open Label Extension Study of 1 mg/kg Pegunigalsidase Alfa Every 2 Weeks in Patients With Fabry Disease
The objective of CLI-06657AA1-04 (formerly PB-102-F60) was to evaluate the long-term safety, tolerability, and efficacy parameters of 1 mg/kg pegunigalsidase alfa administered intravenously every other week in adult Fabry…
- Trial name
- NCT03566017
- Testing
- pegunigalsidase alfa
- Where
- 30 sites in United States, Australia and 11 more
- Volunteers
- 97 people
- Sponsor
- Chiesi Farmaceutici S.p.A.
Mitochondrial Diseases, Barth Syndrome
An Intermediate Size Expanded Access Protocol of Elamipretide
Choosing to participate in an expanded access program is an important personal decision. Talk with your doctor to learn more about this program.
- Trial name
- NCT04689360
- Testing
- elamipretide
- Sponsor
- Stealth BioTherapeutics Inc.
Mucopolysaccharidosis II, Hunter Syndrome
A Study to Evaluate the Safety, Tolerability, PK and PD of Intracerebroventricular GC1123 in Patients with MPS Ⅱ
The purpose of this study is to evaluate the safety, tolerability, pharmacokinetics and pharmacodynamics of intracerebroventricular GC1123 in patients with MPS Ⅱ who have central nervous system involvement and are receiving…
- Trial name
- NCT05422482
- Testing
- GC1123
- Where
- 3 sites in South Korea
- Volunteers
- 12 people
- Sponsor
- GC Biopharma Corp
Fabry Disease
A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents With Fabry Disease
A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents with Fabry Disease.
- Trial name
- FLY (NCT06328608)
- Testing
- PRX-102 1 mg/kg every two weeks
- Where
- 12 sites in United States, Austria and 4 more
- Volunteers
- 22 people
- Sponsor
- Chiesi Farmaceutici S.p.A.
Fragile X Syndrome
Efficacy and Safety Study of STX209 (Arbaclofen) for the Treatment of Social Withdrawal in Children With Fragile X Syndrome
There will be four study periods: Screening (up to 14 days in length), the Treatment Period (8 weeks), the Withdrawal Period (22 days), and Follow-up Period (up to 31 days).
- Trial name
- Harbor-C (NCT01325220)
- Testing
- arbaclofen
- Where
- 28 sites in United States
- Volunteers
- 172 people
- Sponsor
- Seaside Therapeutics, Inc.
Duchenne Muscular Dystrophy
Study of ACE-031 in Subjects With Duchenne Muscular Dystrophy
The purpose of this study is to determine if ACE-031 is safe and well-tolerated in boys with Duchenne Muscular Dystrophy (DMD) and to select the optimal doses of ACE-031 in terms of safety and pharmacodynamic (PD) activity for…
- Trial name
- NCT01099761
- Testing
- ACE-031 0.5 mg/kg q4wk, ACE-031 1.0 mg/kg q2wk
- Where
- 5 sites in Canada
- Volunteers
- 24 people
- Sponsor
- Acceleron Pharma, Inc., a wholly-owned subsidiary of Merck & Co., Inc., Rahway, NJ USA
Duchenne Muscular Dystrophy
Phase III Study With Idebenone in Patients With Duchenne Muscular Dystrophy (SIDEROS-E)
The purpose of the study is to assess the long-term safety and efficacy of idebenone in patients with Duchenne muscular dystrophy (DMD) who completed the SIDEROS study.
- Trial name
- SIDEROS-E (NCT03603288)
- Testing
- idebenone 150 mg film-coated tablets
- Where
- 39 sites in United States, Austria and 7 more
- Volunteers
- 161 people
- Sponsor
- Santhera Pharmaceuticals
Retinitis Pigmentosa, Choroideremia
A Phase I/II Dose-escalating Study of the Safety, Tolerability and Efficacy of KIO-301 Administered Intravitreally to Patients With Retinitis Pigmentosa and Choroideremia (ABACUS)
A phase I/II dose-escalating study of the safety, tolerability and efficacy of KIO-301 administered intravitreally to patients with retinitis pigmentosa and choroideremia (ABACUS).
- Conditions
- Retinitis Pigmentosa, Choroideremia, Non-Syndromic Rod-Dominant Inherited Retinal Diseases
- Trial name
- NCT05282953
- Testing
- KIO-301
- Where
- 3 sites in Australia
- Volunteers
- 32 people
- Sponsor
- Kiora Pharmaceuticals, Inc.
Fabry Disease
Evaluation of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-Naïve Adult Male Patients With Fabry Disease
Primary Objective: To assess the long-term safety of GZ/SAR402671 in adult male participants with Fabry disease who previously completed study ACT13739 (NCT02489344).
- Trial name
- NCT02489344
- Testing
- GZ/SAR402671
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 8 people
- Sponsor
- Genzyme, a Sanofi Company
Danon Disease
Natural History of Danon Disease
This is a multicenter, international, non-interventional, natural history study designed to collect longitudinal retrospective clinical information on patients with Danon disease (DD).
- Trial name
- NCT05548855
- Testing
- Heart Transplant, Cardiac Assistive Device
- Where
- 15 sites in Czechia, France and 3 more
- Volunteers
- 59 people
- Sponsor
- Rocket Pharmaceuticals Inc.
Hemophilia B
Study of Recombinant Factor IX Product, IB1001, in Subjects With Hemophilia B
Primary Objective: To evaluate the safety (acute effects associated with infusions, and inhibitor development), pharmacokinetics (PK), and efficacy with respect to breakthrough bleeding during prophylaxis and with respect to…
- Trial name
- NCT00768287
- Testing
- IB1001, nonacog alfa
- Where
- 23 sites in United States, France and 5 more
- Volunteers
- 77 people
- Sponsor
- Medexus Pharma, Inc.
Fabry Disease
Safety Study of Replagal® Therapy in Children With Fabry Disease
The purpose of this study is to assess the safety of Replagal in children with Fabry disease who who have not previously been treated with enzyme replacement therapy (ERT).
- Trial name
- NCT01363492
- Testing
- Replagal (agalsidase alfa)
- Where
- 5 sites in United States
- Volunteers
- 15 people
- Sponsor
- Shire
Fragile X Syndrome
An Open Label Extension Study in Subjects With Fragile X Syndrome
This study will enroll subjects who have completed Protocols 209FX301, 209FX302, or are currently participating in Protocol 2202 into a long-term study in which all subjects will receive active drug (arbaclofen).
- Trial name
- 209FX303 (NCT01555333)
- Testing
- arbaclofen
- Where
- 23 sites in United States
- Volunteers
- 357 people
- Sponsor
- Seaside Therapeutics, Inc.
X-Linked Retinitis Pigmentosa
A Study Comparing Two Doses of AGTC-501 in Male Subjects With X-linked Retinitis Pigmentosa Caused by RPGR Mutations (SKYLINE)
This study will evaluate the safety and efficacy of a recombinant adeno-associated virus vector (rAAV2tYF-GRK1-RPGR) in patients with X-linked retinitis pigmentosa caused by RPGR mutations.
- Trial name
- NCT06333249
- Testing
- rAAV2tYF-GRK1-RPGR
- Where
- 6 sites in United States
- Volunteers
- 14 people
- Sponsor
- Beacon Therapeutics
Fabry Disease
Evaluate the Safety and Exploratory Efficacy of GC1119
The purpose of this study is to evaluate the safety and exploratory efficacy of GC1119 (recombinant human α-galactosidase A) for enzyme replacement therapy in Fabry disease patients.
- Trial name
- NCT01653444
- Testing
- GC1119
- Where
- 3 sites in South Korea
- Volunteers
- 8 people
- Sponsor
- Green Cross Corporation
Fabry Disease
Safety and Efficacy Study of Several Replagal Dosing Regimens on Cardiac Function in Adults With Fabry Disease
The purpose of this study is to compare the safety and effectiveness of various doses of Replagal in patients with cardiomyopathy due to Fabry disease.
- Trial name
- NCT00864851
- Testing
- Replagal
- Where
- 12 sites in United States, Australia and 6 more
- Volunteers
- 44 people
- Sponsor
- Shire