Clinical trials: Congenital Muscular Dystrophy
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
Myotonic Dystrophy 1, Muscular Dystrophies
Myotonic Dystrophy Type 1 Aerobic Exercise Study
Myotonic dystrophy type 1 (DM1) is a genetic disease that primarily targets skeletal muscle resulting in severe weakness and muscle loss.
- Trial name
- DM1ex (NCT04187482)
- Testing
- Exercise training
- Where
- Canada
- Volunteers
- 13 people, healthy volunteers welcome
- Sponsor
- McMaster University
Duchenne Dystrophy Muscular
Biomechanical and Morphological Changes in Dystrophic Muscle
The loss of ability to walk in many children with DMD (Duchenne muscular Dystrophy) is a pejorative event. Biomechanical and morphological unknowledge about the loss of the walk ability in children with DMD is an obstacle in…
- Trial name
- MARCHE-DMD (NCT02472990)
- Where
- 10 sites in France
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University Hospital, Brest
Becker Muscular Dystrophy, Limb-Girdle Muscular Dystrophy Type 2I
Muscle MRI in Becker Muscular Dystrophy and in Limb-girdle Muscular Dystrophy Type 2I
The purpose of this study is to investigate the paradoxical muscle enlargement in the calves and tongue seen in patients affected by Becker muscular dystrophy and Limb-girdle muscular dystrophy type 2I.
- Trial name
- NCT02165358
- Where
- Denmark
- Volunteers
- 38 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Myopathy, Muscular Dystrophies
Muscle Health Measurements Using Electrical Impedance Myography
This study is being done to further develop a device, the mScan, to measure muscle health as compared to measurements of muscle health using MRI (magnetic resonance imaging).
- Conditions
- Myopathy, Muscular Dystrophies, Myositis, Myofibrillar Myopathy
- Trial name
- NCT07502989
- Testing
- Electrical Impedance Myography
- Where
- United States
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Beth Israel Deaconess Medical Center
Becker Muscular Dystrophy, Limb-Girdle Muscular Dystrophy, Type 2A (Calpain-3 Deficiency)
Evaluation of Limb-Girdle Muscular Dystrophy
The purpose of this study is to understand the biochemistry of different types of Limb-Girdle Muscular Dystrophy (LGMD) and to determine appropriate outcome measures for future clinical treatment trials for LGMD.
- Conditions
- Becker Muscular Dystrophy, Limb-Girdle Muscular Dystrophy, Type 2A (Calpain-3 Deficiency), Limb-Girdle Muscular Dystrophy, Type 2B (Miyoshi Myopathy, Dysferlin Deficiency), Limb-Girdle Muscular Dystrophy, Type 2I (FKRP-deficiency)
- Trial name
- NCT00893334
- Where
- 2 sites in United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Cooperative International Neuromuscular Research Group
Duchenne Muscular Dystrophy
Telerehabilitation-based Motor Imagery Training in Children With Duchenne Muscular Dystrophy
When the field of neurorehabilitation is examined, most of the current physiotherapy and rehabilitation approaches are based on real movements to stimulate damaged motor neural connections through neuroplasticity.
- Trial name
- NCT06109103
- Testing
- telerehabilitation-based motor imagery training, telerehabilitation-based physiotheraphy training
- Where
- Turkey (Türkiye)
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Hacettepe University
Duchenne Muscular Dystrophy (DMD)
A Remote Study Using Technology to Assess Outcomes in DMD
Every year, 100 boys are born in the UK with a rare muscle disease called Duchenne muscular dystrophy. These boys cannot make an important muscle protein called dystrophin.
- Trial name
- TODDLER (NCT07423026)
- Where
- United Kingdom
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University of Oxford
Myotonic Dystrophy, Duchenne Muscular Dystrophy
Biomarker Development for Muscular Dystrophies
Current methods of measuring the response to new treatments for muscular dystrophies involve the examination of small pieces of muscle tissue called biopsies.
- Conditions
- Myotonic Dystrophy, Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Facioscapulohumeral Muscular Dystrophy
- Trial name
- NCT05019625
- Where
- 5 sites in United States
- Volunteers
- 465 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Duchenne Muscular Dystrophy
Heart Rate Variability in Individuals With Duchenne Muscular Dystrophy
A cross-sectional study was carried out, in which 40 boys, aged 11 to 18 years, were evaluated. The recruitment of groups was carried out at the neuromuscular disease outpatient clinic of the Federal University of São Paulo…
- Trial name
- NCT04740554
- Testing
- Duchenne Muscular Dystrophy group with Deflazacort, Duchenne Muscular Dystrophy group with Prednisone/Predisolone, Duchenne Muscular Dystrophy group without Corticosteroids therapy
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- University of Sao Paulo
Myotonic Dystrophy 1, Dysphagia, Oropharyngeal
Profile of Dysphagia in Myotonic Dystrophy Type 1 (DM1)
The goal of this observational study is to learn about swallowing difficulties (dysphagia) in patients living with myotonic dystrophy type 1 (DM1).
- Trial name
- SwallowDM1 (NCT05865483)
- Where
- United Kingdom
- Volunteers
- 177 people, healthy volunteers welcome
- Sponsor
- University College, London
Executive Dysfunction, Occupational Problems
Investigation of the Relationship Between Executive Functions and Occupational Performance of Children With Duchenne Muscular Dystrophy
The effects of Duchenne muscular dystrophy and its treatments on executive functions and occupational performance are under-mentioned in the literature.
- Conditions
- Executive Dysfunction, Occupational Problems, Duchenne Muscular Dystrophy
- Trial name
- NCT06868784
- Testing
- Evaluations
- Where
- Turkey (Türkiye)
- Volunteers
- 38 people, healthy volunteers welcome
- Sponsor
- Lokman Hekim University
Neuromuscular Diseases
Muscle Oxygenation in Effort in Neuromuscular Diseases
Previous studies showed modifications of muscle oxygenation parameters in muscular dystrophies du to an impairment or an absence of dystrophin.
- Trial name
- OXYNEMU (NCT02789059)
- Testing
- muscle oxygenation
- Where
- 3 sites in France
- Volunteers
- 17 people, healthy volunteers welcome
- Sponsor
- University Hospital, Lille
Duchenne Muscular Dystrophy
Telerehabilitation in Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy (DMD) is a progressive inherited disease that affects the muscles and causes functional limitations to varying degrees. It is vital to start physiotherapy follow-ups immediately after diagnosis.
- Trial name
- Duchenne (NCT05305976)
- Testing
- Telerehabilitation
- Where
- Turkey (Türkiye)
- Volunteers
- 43 people, healthy volunteers welcome
- Sponsor
- Karadeniz Technical University
Phenotype, Genotype
Phenotype - Genotype Correlation in a Sample of Egyptian Patients With Congenital Myopathies and Congenital Muscular Dystrophies
The aim of this study is to correlate the phenotype and genotype among a sample of Egyptian patients with Congenital myopathies and Congenital muscular dystrophies.
- Conditions
- Phenotype, Genotype, Correction, Sample
- Trial name
- NCT07138963
- Testing
- Genetic Testing and Muscle Biopsy
- Where
- Egypt
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Ain Shams University
Myotonic Dystrophy
Effects of SomatoKine (Iplex)Recombinant Human Insulin-like Growth Factor-1/Recombinant Human Insulin-like Growth Factor-binding Protein-3 (rhIGF-I/rhIGFBP-3) in Myotonic Dystrophy Type 1 (DM1)
The aim of this study is to investigate the safety and feasibility of daily subcutaneous injections of recombinant IGF1 complexed with IGF binding protein 3 (SomatoKine-INSMED) as a treatment for muscle wasting and weakness in…
- Trial name
- NCT00233519
- Testing
- SomatoKine/IPLEX
- Where
- United States
- Volunteers
- 17 people, healthy volunteers welcome
- Sponsor
- University of Rochester
Duchenne Muscular Dystrophy (DMD), Becker's Muscular Dystrophy (BMD)
Urinary Titin Biomarker in DMD
A universal challenge in clinical investigation of novel therapeutics is the need for quantitative, objective biomarkers that directly address the mechanisms of disease and provide information relevant to clinically meaningful…
- Trial name
- NCT07332013
- Testing
- Descending stair walk
- Where
- United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
Muscular Dystrophy, Facioscapulohumeral
Magnetic Resonance Imaging and Ultrasound Comparison With Load Evaluation
Facioscapulohumeral dystrophy (FSHD) is one of the most common hereditary neuromuscular disorders (NMD), with an estimated prevalence of 2000 patients in the Netherlands.
- Trial name
- MUSCLE+ (NCT06227182)
- Testing
- Muscle ultrasound with surface electromyography and dynamometry, MRI scan
- Where
- Netherlands
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Radboud University Medical Center
Myotonic Dystrophy
Development of Quantitative Muscle Imaging as a Biomarker of Disease Endpoints in Myotonic Dystrophy
Myotonic dystrophy (dystrophia myotonica; DM), the most prevalent form of muscular dystrophy in adults, is characterized by progressive myopathy, myotonia, and multi-systemic involvement.
- Trial name
- DeQoDE-DM (NCT07362875)
- Where
- United States
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Wake Forest University Health Sciences
Duchenne Muscular Dystrophy
First in Human SAD/MAD Safety and PK Study With Adult DMD Safety and PK Cohort
This is a first-in-human (FIH), Phase 1 study of orally administered SAT-3247 in healthy adult volunteers (HVs) and adult participants with DMD to determine safety, tolerability, pharmacokinetics and pharmacodynamics.
- Trial name
- NCT06565208
- Testing
- SAT-3247
- Where
- 2 sites in Australia
- Volunteers
- 77 people, healthy volunteers welcome
- Sponsor
- Satellos Bioscience, Inc.