Clinical trials: Dystrophinopathy
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
Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy
Duchenne Electronic Health Record Study
This study aims to collect retrospective and prospective, long-term data of patients with dystrophinopathy (including Duchenne, Becker, and female carriers) through electronic transfer.
- Conditions
- Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy, Dystrophinopathy, Dystrophinopathy Symptomatic Female Carrier
- Trial name
- NCT07609394
- Testing
- Observational study with patients who may be treated with various disease-modifying therapies
- Where
- 10 sites in United States
- Volunteers
- 2,500 people
- Sponsor
- The Duchenne Registry
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
Dystrophinopathy, Muscular Dystrophies
VirtualPark_Pediatric
The goal of this clinical trial is to assess the effects of a dual-task, multimodal training program on slowing functional motor decline in children and adolescents with neuromuscular disorders.
- Conditions
- Dystrophinopathy, Muscular Dystrophies, Congenital Myopathies
- Trial name
- NCT07580365
- Testing
- Dual-task cycling, Standard therapy
- Where
- 4 sites in Italy
- Volunteers
- 22 people
- Sponsor
- Istituto di Sistemi e Tecnologie Industriali Intelligenti per il Manifatturiero Avanzato
Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy
DMD Gene Variants and Cardiac Dysfunction in Young Males With Dystrophinopathies
The goal of this observational study is to investigate whether the type, location, and extent of pathogenic variants in the DMD gene are associated with cardiac dysfunction in male children, adolescents, and young adults with…
- Conditions
- Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy, Cardiomyopathy
- Trial name
- NCT07515235
- Where
- Greece
- Volunteers
- 65 people
- Sponsor
- Aristotle University Of Thessaloniki
Duchenne Muscular Dystrophy, Becker Muscular Dystrophy
Study of Ataluren for Previously Treated Participants With Nonsense Mutation Duchenne/Becker Muscular Dystrophy (nmDBMD) in Europe, Israel, Australia, and Canada
Duchenne/Becker muscular dystrophy (DBMD) is a genetic disorder that develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function.
- Conditions
- Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Dystrophinopathy
- Trial name
- NCT01557400
- Testing
- Ataluren
- Where
- 21 sites in Australia, Belgium and 8 more
- Volunteers
- 94 people
- Sponsor
- PTC Therapeutics
Duchenne Muscular Dystrophy
Study of Ataluren in Previously Treated Participants With Nonsense Mutation Dystrophinopathy (nmDBMD)
The objective of this study is to assess the safety and tolerability of 10, 10, 20 milligrams per kilogram (mg/kg) ataluren in participants with nmDBMD who had prior exposure to ataluren in a PTC sponsored clinical trial or…
- Trial name
- NCT01247207
- Testing
- Ataluren
- Where
- 34 sites in United States, Canada
- Volunteers
- 265 people
- Sponsor
- PTC Therapeutics
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
Duchenne Muscular Dystrophy
Study of Ataluren in ≥2 to <5 Year-Old Male Participants With Duchenne Muscular Dystrophy
This is a Phase 2, multiple-dose, open-label study evaluating the safety, pharmacokinetics (PK), and pharmacodynamics (PD) of ataluren in participants aged ≥2 to <5 years old with Duchenne muscular dystrophy (DMD) caused by a…
- Trial name
- NCT02819557
- Testing
- Ataluren
- Where
- 6 sites in United States
- Volunteers
- 14 people
- Sponsor
- PTC Therapeutics
Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy
Registry for Duchenne and Becker Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is an X-linked, recessive, progressive, and degenerative neuromuscular disorder that affects approximately one in 5,000 newborn boys.
- Conditions
- Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy, Dystrophinopathy Symptomatic Female Carrier
- Trial name
- FAIR-DMD (NCT07402122)
- Where
- 30 sites in Austria, Germany
- Volunteers
- 1,500 people
- Sponsor
- Dr. Andreas Ziegler
During the Medical Appointment, the Speech Therapist Will Perform Phonetic Tests
Correlation Between Respiratory Impairment and Phonemes Alteration in Dystrophinopathy Patients With Respiratory Failure
Communication is essential for patients quality of life because it impact on patients care quality. Neuromuscular diseases, caracterised by motor damages, hinder non-verbal communication of the patient.
- Trial name
- PHONORESPI (NCT02411370)
- Testing
- phonetic tests
- Where
- France
- Volunteers
- 30 people
- Sponsor
- Centre d'Investigation Clinique et Technologique 805
Dystrophinopathy, Duchenne Muscular Dystrophy
Safety, Tolerability and Effects of L-Arginine in Boys With Dystrophinopathy on Corticosteroids
The purpose of the study is to assess the safety, tolerability, and effects of L-Arginine on muscles in boys with dystrophinopathy on corticosteroids.
- Conditions
- Dystrophinopathy, Duchenne Muscular Dystrophy, Becker's Muscular Dystrophy
- Trial name
- NCT01388764
- Testing
- L-arginine
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- Massachusetts General Hospital
Duchenne Muscular Dystrophy, Becker Muscular Dystrophy
The Duchenne Registry
The Duchenne Registry is an online, patient-report registry for individuals with Duchenne and Becker muscular dystrophy and carrier females.
- Conditions
- Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Dystrophinopathy, Dystrophinopathy Symptomatic Female Carrier
- Trial name
- NCT02069756
- Where
- United States
- Volunteers
- 10,000 people
- Sponsor
- The Duchenne Registry