Clinical trials: Genetic Diseases
Muscular Dystrophy, Duchenne, Muscular Dystrophies
Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy
This study is a long-term study of ataluren in participants with nonsense mutation Duchenne muscular dystrophy.
- Conditions
- Muscular Dystrophy, Duchenne, Muscular Dystrophies, Muscular Disorders, Atrophic, Muscular Diseases
- Trial name
- NCT03179631
- Testing
- Ataluren
- Where
- 64 sites in United States, Australia and 16 more
- Volunteers
- 360 people
- Sponsor
- PTC Therapeutics
Optic, Atrophy, Hereditary, Leber
Efficacy Study of GS010 for the Treatment of Vision Loss up to 6 Months From Onset in LHON Due to the ND4 Mutation
The goal of this clinical trial is to assess the effectiveness of GS010, a gene therapy, in improving the visual outcome in participants with Leber Hereditary Optic Neuropathy (LHON) due to the G11778A ND4 mitochondrial mutation…
- Trial name
- RESCUE (NCT02652767)
- Testing
- GS010
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 39 people
- Sponsor
- GenSight Biologics
Optic, Atrophy, Hereditary, Leber
Efficacy Study of GS010 for Treatment of Vision Loss From 7 Months to 1 Year From Onset in LHON Due to the ND4 Mutation (REVERSE)
The goal of this clinical trial is to assess the effectiveness of GS010, a gene therapy, in improving the visual outcome in participants with Leber Hereditary Optic Neuropathy (LHON) due to the G11778A ND4 mitochondrial mutation…
- Trial name
- REVERSE (NCT02652780)
- Testing
- GS010
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 37 people
- Sponsor
- GenSight Biologics
Leber Hereditary Optic Neuropathy
REALITY LHON Registry
This study is a multi-country retrospective and cross-sectional observational study of affected LHON subjects, based on retrospective subjects' medical chart abstractions and cross-sectional administration of patient-reported…
- Trial name
- REALITY (NCT03295071)
- Testing
- Patient-reported outcomes (PROs)
- Where
- 11 sites in United States, France and 3 more
- Volunteers
- 44 people
- Sponsor
- GenSight Biologics
Leber Hereditary Optic Neuropathy
RESCUE and REVERSE Long-term Follow-up
The goal of this clinical trial is to assess the long-term safety and efficacy of GS010, a gene therapy, and assess the quality of life in subjects with LHON due to the G11778A ND4 mitochondrial mutation and who were treated in…
- Trial name
- RESTORE (NCT03406104)
- Testing
- GS010
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 62 people
- Sponsor
- GenSight Biologics
Leber Hereditary Optic Neuropathy (Optic, Atrophy, Hereditary, Leber)
EAP_GS010_single Patient
Expanded Access Use for a single patient of Bilateral Intravitreal Injection of GS010 in a Single Subject Affected with G11778A ND4 Leber Hereditary Optic Neuropathy
- Trial name
- NCT03672968
- Testing
- GS010
- Sponsor
- GenSight Biologics
Leber Hereditary Optic Disease
Efficacy and Safety Study of Bilateral IVT Injection of GS010 at Two Dose Levels in LHON Patients
The goal of this Clinical trial is to assess the safety and efficacy of GS010 at two dose levels on visual acuity and retinal mitochondrial activity in patients affected with ND4 Leber Hereditary Optic Neuropathy (LHON)
- Trial name
- REVISE (NCT07303296)
- Testing
- GS010 High dose, GS010 Low dose
- Where
- France
- Volunteers
- 14 people
- Sponsor
- GenSight Biologics
Myotonic Dystrophy 1
Safety, Tolerability, PK, and PD Study of PGN-EDODM1 in Participants With Myotonic Dystrophy Type 1
The primary purpose of the study is to evaluate the safety and tolerability of single intravenous (IV) doses of PGN-EDODM1 administered to participants with Myotonic Dystrophy Type 1 (DM1).
- Trial name
- FREEDOM-DM1 (NCT06204809)
- Testing
- PGN-EDODM1 for infusion
- Where
- 12 sites in United States, Canada and 1 more
- Volunteers
- 24 people
- Sponsor
- PepGen Inc
Propionic Acidemia
Open-Label Study of mRNA-3927 in Participants With Propionic Acidemia
This 3-part, Phase 1/2 study is designed to characterize the safety, tolerability, and pharmacological activity (as assessed by biomarker measurements) and to determine the selected dose of mRNA-3927 in participants with…
- Trial name
- NCT04159103
- Testing
- mRNA-3927
- Where
- 35 sites in United States, Canada and 6 more
- Volunteers
- 77 people
- Sponsor
- ModernaTX, Inc.
Hypochondroplasia
Interventional Study of Vosoritide for the Treatment of Children With Hypochondroplasia
The intent and design of this Phase 3 study is to assess vosoritide as a therapeutic option for the treatment of children with hypochondroplasia (HCH).
- Trial name
- CANOPY-HCH-3 (NCT06455059)
- Testing
- Vosoritide
- Where
- 23 sites in United States, Australia and 7 more
- Volunteers
- 80 people
- Sponsor
- BioMarin Pharmaceutical
Hemophilia A
A Long-Term Follow-Up Study in Severe Hemophilia A Subjects Who Received BMN 270 in a Prior BioMarin Clinical Trial (270-401)
The BMN 270 clinical development program consists of multiple interventional studies designed to assess the safety and efficacy of a single infusion of BMN 270 for at least 5 years post-infusion.
- Trial name
- GENEr8-LTE (NCT05768386)
- Where
- 41 sites in United States, Australia and 10 more
- Volunteers
- 172 people
- Sponsor
- BioMarin Pharmaceutical
Methylmalonic Acidemia
An Extension Study to Evaluate the Long-Term Safety and Clinical Activity of mRNA-3705 in Participants Previously Enrolled in Other Clinical Studies of mRNA-3705
The primary objective of this study is to evaluate the long-term safety and clinical activity of mRNA-3705 administered to participants with isolated methylmalonic acidemia (MMA) due to methylmalonyl-coenzyme A mutase (MUT)…
- Trial name
- NCT05295433
- Testing
- mRNA-3705
- Where
- 12 sites in United States, Canada and 4 more
- Volunteers
- 56 people
- Sponsor
- ModernaTX, Inc.
Epidermolysis Bullosa, Junctional Epidermolysis Bullosa
A Study to Learn About the Safety and Efficacy of the Drug Oleogel-S10 in Japanese Patients With Epidermolysis Bullosa
The goal of this clinical trial is to learn if Oleogel-S10 gel works to treat skin wounds from two types of inherited epidermolysis bullosa (EB): junctional EB (JEB) or dystrophic EB (DEB) in the Japanese population.
- Conditions
- Epidermolysis Bullosa, Junctional Epidermolysis Bullosa, Epidermolysis Bullosa, Dystrophic, Epidermolysis Bullosa, Junctional
- Trial name
- REVIVE (NCT06917690)
- Testing
- Oleogel-S10
- Where
- 6 sites in Japan
- Volunteers
- 6 people
- Sponsor
- Chiesi Farmaceutici S.p.A.
Beta-Thalassemia, Thalassemia
A Safety and Efficacy Study Evaluating CTX001 in Participants With Transfusion-Dependent β-Thalassemia
This is a single-arm, open-label, multi-site, single-dose Phase 1/2/3 study in participans with transfusion-dependent β-thalassemia (TDT).
- Conditions
- Beta-Thalassemia, Thalassemia, Genetic Diseases, Inborn, Hematologic Diseases
- Trial name
- NCT03655678
- Testing
- CTX001
- Where
- 14 sites in United States, Canada and 3 more
- Volunteers
- 59 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Sickle Cell Disease, Thalassemia
A Study of Etavopivat in Patients With Thalassemia or Sickle Cell Disease
This clinical trial is a Phase 2 study that will evaluate the safety and clinical activity of etavopivat in patients with thalassemia or sickle cell disease and test how well etavopivat works to lower the number of red blood cell…
- Trial name
- GLADIOLUS (NCT04987489)
- Testing
- Etavopivat tablets
- Where
- 32 sites in United States, Canada and 4 more
- Volunteers
- 53 people
- Sponsor
- Forma Therapeutics, Inc.
Glycogen Storage Disease
A Study of mRNA-3745 in Adult and Pediatric Participants With Glycogen Storage Disease Type 1a (GSD1a)
The main goal of this trial is to evaluate the safety and tolerability of mRNA-3745 via intravenous (IV) administration in adult and pediatric participants with GSD1a.
- Trial name
- NCT05095727
- Testing
- mRNA-3745
- Where
- 16 sites in United States, Canada and 4 more
- Volunteers
- 15 people
- Sponsor
- ModernaTX, Inc.
Krabbe Disease
Gene Transfer Clinical Trial for Infantile and Late Infantile Krabbe Disease Treated Previously With HSCT
This is a non-blinded, non-randomized dose escalation study of intravenous FBX-101 in which subjects will receive a single infusion of an adeno-associated virus gene therapy product, after more than 21 days of the HSCT (UCBT…
- Trial name
- REKLAIM (NCT05739643)
- Testing
- FBX-101
- Where
- 3 sites in United States
- Volunteers
- 9 people
- Sponsor
- Forge Biologics, Inc
Achondroplasia
Study of Infigratinib in Children With Achondroplasia
This is a Phase 2, multicenter, open-label, dose-escalation and dose-expansion study to evaluate the safety, tolerability, and efficacy of infigratinib, a fibroblast growth factor receptor (FGFR) 1-3-selective tyrosine kinase…
- Trial name
- NCT04265651
- Testing
- Infigratinib 0.016 mg/kg, Infigratinib 0.032 mg/kg, Infigratinib 0.064 mg/kg
- Where
- 19 sites in United States, Australia and 4 more
- Volunteers
- 84 people
- Sponsor
- QED Therapeutics, a BridgeBio company
Hemophilia A
Study to Evaluate the Efficacy and Safety of Valoctocogene Roxaparvovec, With Prophylactic Steroids in Hemophilia A
This Phase III clinical study will evaluate the safety and effectiveness of valoctocogene roxaparvovec in combination with prophylactic corticosteroids in patients with severe hemophilia A.
- Trial name
- GENEr8-3 (NCT04323098)
- Testing
- valoctocogene roxaparvovec
- Where
- 12 sites in United States, Australia and 2 more
- Volunteers
- 22 people
- Sponsor
- BioMarin Pharmaceutical
Hemophilia B
An International Study to Evaluate the Real-world Effectiveness and Usage of Alprolix in Patients With Haemophilia B
Alprolix (rFIXFc) is a recombinant extended half-life coagulation factor product. The purpose of this non-interventional study is to describe the real-world usage and effectiveness of Alprolix in the on-demand and prophylactic…
- Trial name
- B-MORE (NCT03901755)
- Testing
- Alprolix
- Where
- 29 sites in Czechia, Greece and 7 more
- Volunteers
- 151 people
- Sponsor
- Swedish Orphan Biovitrum