Clinical trials: Hereditary Muscular Dystrophy
Myotonic Dystrophy
A Study to Investigate the Safety, Tolerability, and Efficacy of SAR446268, an Adeno-associated Viral Vector-mediated Gene Therapy in Participants Aged 10 to 55 Years of Age With Non-congenital Myotonic Dystrophy Type 1
This is a Phase 1/Phase 2 open-label single arm, multicenter, and multinational study with SAR446268 for treatment of male and female participants 10 to 55 years old with non-congenital myotonic dystrophy (DM) type 1 (DM1).
- Trial name
- BrAAVe (NCT06844214)
- Testing
- SAR446268
- Where
- 10 sites in United States, Argentina and 4 more
- Volunteers
- 32 people
- Sponsor
- Sanofi
Duchenne Muscular Dystrophy
Safety and Efficacy Study of IGF-1 in Duchenne Muscular Dystrophy
The purpose of this study is to determine whether IGF-1 therapy improves or preserves muscle function in Duchenne Muscular Dystrophy (DMD).
- Trial name
- NCT01207908
- Testing
- IGF-1
- Where
- United States
- Volunteers
- 44 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Myotonic Dystrophy 1
Chinese Multicenter Clinical Outcome Cohort Study of Myotonic Dystrophy Type 1 (C-DMCOS-DM1)
Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disorder caused by an expanded CTG trinucleotide repeat in the 3' untranslated region of the DMPK gene.
- Trial name
- C-DMCOS-DM1 (NCT06101940)
- Testing
- MRI scan, Electrocardiography, Pulmonary function test
- Where
- 22 sites in China
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Huashan Hospital
Duchenne Muscular Dystrophy
Study to Assess the Safety, Tolerability, and Efficacy of Viltolarsen in Ambulant and Non-Ambulant Boys With DMD (Galactic53)
This is a phase II, open-label study where weekly doses of 80 mg/kg viltolarsen is administered intravenously over a 48-week treatment period to ambulant and non-ambulant DMD patients over the age of 8 years.
- Trial name
- NCT04956289
- Testing
- Viltolarsen
- Where
- 8 sites in United States, China and 4 more
- Volunteers
- 20 people
- Sponsor
- NS Pharma, Inc.
Glycogen Storage Disease Type 2, Dystrophia Myotonica
An MRI Study on Muscular Diseases -Pompe Disease and Dystrophia Myotonica-
The aim of the project is to develop new Magnetic Resonance (MR) imaging techniques for better diagnosis and monitoring of patients with muscular disorders.
- Trial name
- NCT02708784
- Where
- 2 sites in Denmark
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Duchenne Muscular Dystrophy
Upper Limb Assessment in Duchenne Muscular Dystrophy
The literature on outcome measures assessing upper limbs in Duchenne muscular dystrophy (DMD) is quite scanty. While there have been considerable advances for ambulant DMD boys, no prospective study has so far been devoted to…
- Trial name
- PUL in DMD (NCT02436720)
- Where
- Italy
- Volunteers
- 300 people
- Sponsor
- Catholic University of the Sacred Heart
Duchenne Muscular Dystrophy
Extension Study of NS-065/NCNP-01 in Boys With Duchenne Muscular Dystrophy (DMD)
This is an open-label, extension study of NS-065/NCNP-01 administered intravenously once weekly for an additional 192 weeks to boys with DMD who complete Study NS-065/NCNP-01-201.
- Trial name
- NCT03167255
- Testing
- NS-065/NCNP-01
- Where
- 6 sites in United States, Canada
- Volunteers
- 16 people
- Sponsor
- NS Pharma, Inc.
Neuromuscular Diseases, Limb Girdle Muscular Dystrophy
3 Year Follow up on ANO5 Patients
The aim of the study is to investigate progression in muscle affection in patients with pathogenic variants in the anoctamin 5 gene to: 1. investigate possible progression of disease over time 2.
- Trial name
- NCT05206617
- Testing
- No intervention - pure observational study
- Where
- Denmark
- Volunteers
- 17 people
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Spinal Muscular Atrophy Type 3, Duchenne Muscular Dystrophy
Wearable Technology to Assess Gait Function in SMA and DMD
The purpose of this project is to devise instrumented insoles capable of accurately measuring gait at each footfall, over multiple hours in any environment.
- Trial name
- NCT04193085
- Testing
- Observational
- Where
- United States
- Volunteers
- 39 people, healthy volunteers welcome
- Sponsor
- Columbia University
LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A), Merosin Deficient CMD (Full or Partial)
Spanish Natural History Study for LAMA2 Muscular Dystrophy
The objective of this natural history study is to comprehensively characterize the disease progression and clinical features of LAMA2-related dystrophies (LAMA2-RD) in the pediatric population.
- Conditions
- LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A), Merosin Deficient CMD (Full or Partial), Merosin Deficient Congenital Muscular Dystrophy, Muscular Dystrophies
- Trial name
- NCT06924125
- Testing
- Motor function scales, MUSCLE ULTRASOUND, Muscle Elastography
- Where
- Spain
- Volunteers
- 100 people
- Sponsor
- Hospital Universitari Vall d'Hebron Research Institute
Performance, Energy
Kinesiology Taping in Duchenne Muscular Dystrophy: Effects on Performance, Gait Characteristics, and Energy Consumption
Investigators investigated that the effects of kinesilogy taping on performance, energy consumption and gait characteristics in patients with Duchenne Muscular Dystrophy
- Conditions
- Performance, Energy, Gait, Duchenne Muscular Dystrophy
- Trial name
- NCT03529240
- Testing
- Kinesiology Taping
- Where
- Turkey (Türkiye)
- Volunteers
- 45 people
- Sponsor
- Hacettepe University
Duchenne Muscular Dystrophy (DMD)
A Study to Evaluate the Safety and Tolerability of GEN6050X in Duchenne Muscular Dystrophy.
The study will evaluate the safety and tolerability of GEN6050X gene therapy in Duchenne muscular dystrophy (DMD) patients amenable to exon 50 skipping.
- Trial name
- GEN6050XIIT (NCT06392724)
- Testing
- GEN6050X intravenous injection
- Where
- China
- Volunteers
- 3 people
- Sponsor
- Peking Union Medical College Hospital
Duchenne Muscular Dystrophy (DMD)
The Safety, Efficacy and Tolerability of Remote Ischemic Preconditioning as a Therapy to DMD
Background: Duchenne muscular dystrophy (DMD) is an X chromosome recessive hereditary disease and mainly characterized by progressive muscle weakness and atrophy.
- Trial name
- NCT02614820
- Testing
- Remote Ischemic Preconditioning Training Apparatus
- Where
- China
- Volunteers
- 100 people
- Sponsor
- General Hospital of Chinese Armed Police Forces
Muscular Dystrophy, Facioscapulohumeral
Randomized Study of Albuterol in Patients With Facioscapulohumeral Muscular Dystrophy
OBJECTIVES: I. Determine whether albuterol increases strength in patients with facioscapulohumeral dystrophy as measured by quantitative voluntary isometric contraction testing. II.
- Trial name
- NCT00004685
- Testing
- albuterol
- Volunteers
- 90 people
- Sponsor
- Ohio State University
Duchenne Muscular Dystrophy With Mutations Amenable to PBGENE-DMD
PBGENE-DMD Phase 1/2a Safety and Preliminary Efficacy Study in Duchenne Muscular Dystrophy (FUNCTION-DMD)
The purpose of this Phase 1/2a trial is to evaluate the safety, tolerability, and preliminary efficacy of PBGENE-DMD in patients with DMD harboring mutations amenable to excision of exons 45-55.
- Trial name
- NCT07429240
- Testing
- PBGENE-DMD (IV)
- Where
- 2 sites in United States
- Volunteers
- 18 people
- Sponsor
- Precision BioSciences, Inc.
Duchenne Muscular Dystrophy
Phase 2a Extension Study of Ataluren (PTC124) in Duchenne Muscular Dystrophy (DMD)
Duchenne muscular dystrophy (DMD) 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.
- Trial name
- NCT00759876
- Testing
- Ataluren
- Where
- 3 sites in United States
- Volunteers
- 36 people
- Sponsor
- PTC Therapeutics
Myotonic Dystrophy 1
Observational Study of Digital Biomarkers of Myotonia and Gait in Adults and Children With Myotonic Dystrophy
The goal of this observational study is to assess movement in individuals with Myotonic Dystrophy Type 1 (DM1) and Type 2 (DM2) using digital biomarker tools.
- Trial name
- NCT06089018
- Where
- United States
- Volunteers
- 125 people, healthy volunteers welcome
- Sponsor
- Stanford University
Duchenne Muscular Dystrophy, Gait Disorders in Children
Quality and Independence of Gait Classification Scale for DMD (QIGS-DMD)
The aim of this study was to develop a reliable and valid gait classification scale for Duchenne Muscular Dystrophy (QIGS-DMD). The items of the QIGS-DMD were designed based on the literature review considering existing…
- Trial name
- NCT05564962
- Testing
- Quality and Independence of Gait Classification Scale for Duchenne Muscular Dystrophy (QIGS-DMD)
- Where
- Turkey (Türkiye)
- Volunteers
- 69 people
- Sponsor
- Hacettepe University
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
Duchenne Muscular Dystrophy, Duchenne
Phase 2 Study of SAT-3247 in Pediatric Ambulatory Patients
Phase 2a trial of SAT-3247 in ambulatory DMD patients aged ≥ 7 and < 10 years. The trial has two parts. In Part 1, the trial will study two doses of SAT-3247 in a randomized, double-blind, placebo-controlled weekday regimen for…
- Conditions
- Duchenne Muscular Dystrophy, Duchenne, DMD, Neuromuscular Diseases
- Trial name
- BASECAMP (NCT07287189)
- Testing
- SAT-3247
- Where
- 20 sites in United States, Australia and 6 more
- Volunteers
- 51 people
- Sponsor
- Satellos Bioscience, Inc.