Clinical trials: Genetic Diseases, X-Linked
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.
Blood Coagulation Disorder, Blood Coagulation Disorders, Inherited
Lead-in Study to Collect Prospective Efficacy and Safety Data of Current FVIII Prophylaxis Replacement Therapy in Adult Hemophilia A Participants
The aim of this prospective, observational study is to establish a dataset on the frequency of bleeding events, as well as other characteristics of bleeding events and FVIII infusions, in patients with clinically severe…
- Conditions
- Blood Coagulation Disorder, Blood Coagulation Disorders, Inherited, Coagulation Protein Disorders, Hemophilia A
- Trial name
- NCT03876301
- Testing
- Standard of Care FVIII Replacement therapy
- Where
- 11 sites in United States, Australia and 2 more
- Volunteers
- 25 people
- Sponsor
- Spark Therapeutics, Inc.
Hemophilia A, Hemophilia B
A Study of Fitusiran (ALN-AT3SC) in Severe Hemophilia A and B Patients With Inhibitors
The purpose of this study was to determine the frequency of bleeding episodes in participants receiving fitusiran as prophylactic treatment of hemophilia compared to participants who were assigned to continue with their regular…
- Trial name
- ATLAS-INH (NCT03417102)
- Testing
- fitusiran, Bypassing agents
- Where
- 58 sites in United States, Australia and 15 more
- Volunteers
- 60 people
- Sponsor
- Genzyme, a Sanofi Company
Hemophilia A, Hemophilia B
A Study of Fitusiran (ALN-AT3SC) in Severe Hemophilia A and B Patients Without Inhibitors
Primary Objective: -To evaluate the efficacy of fitusiran compared to on-demand treatment with factor concentrates, as determined by the frequency of bleeding episodes.
- Trial name
- NCT03417245
- Testing
- fitusiran, factor concentrates
- Where
- 64 sites in United States, Australia and 17 more
- Volunteers
- 120 people
- Sponsor
- Genzyme, a Sanofi Company
Mucopolysaccharidosis Type II, Metabolic Diseases
A Multi-cohort Study of the Tolerance, Safety, and Pharmacokinetics of GNR-055 in Healthy Volunteers
It is a phase I open-label single-dose, dose-escalation cohort study to evaluate of the tolerance, safety, and pharmacokinetics of GNR-055 in healthy volunteers
- Trial name
- NCT04539340
- Testing
- GNR-055
- Where
- Russia
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- AO GENERIUM
Muscular Dystrophy, Duchenne, DMD
The Expanded Access Use of Viltolarsen in Duchenne Muscular Dystrophy With Confirmed Exon 53 Amenable Mutation
This is an open label expanded access program for boys, 3 to 12 years old, for the treatment of Duchenne muscular dystrophy (DMD) with confirmed mutation(s) in the dystrophin gene that is amenable to skipping of exon 53.
- Trial name
- NCT04337112
- Testing
- viltolarsen
- Sponsor
- NS Pharma, Inc.
Muscular Dystrophy, Duchenne, Muscular Dystrophies
An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy
The primary objective of this study is to obtain long term safety data of ataluren in male participants with nonsense mutation dystrophinopathy (who participated and completed a previous Phase 3 study of ataluren…
- Conditions
- Muscular Dystrophy, Duchenne, Muscular Dystrophies, Muscular Disorders, Atrophic, Muscular Diseases
- Trial name
- NCT02090959
- Testing
- Ataluren
- Where
- 58 sites in United States, Australia and 17 more
- Volunteers
- 219 people
- Sponsor
- PTC Therapeutics
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
Hemophilia B
Study of Recombinant Factor IX Product, IB1001, in Previously Treated Subjects With Hemophilia B
To evaluate the safety (acute adverse effects associated with infusions, and inhibitor development), pharmacokinetics (PK), and efficacy with respect to breakthrough bleeding and control of hemorrhaging during prophylaxis of…
- Trial name
- NCT02048111
- Testing
- IB1001
- Where
- 2 sites in United States, United Kingdom
- Sponsor
- Cangene Corporation