Clinical trials: Congenital Myopathy
Duchenne Muscular Dystrophy, Becker Muscular Dystrophy
Revatio for Heart Disease in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy
This study, supported by Charley's Fund, Inc., is being done to determine if the drug Revatio®(also known as Sildenafil), as compared to placebo (an inactive substance that looks like the study drug, but contains no medication)…
- Trial name
- REVERSE-DBMD (NCT01168908)
- Testing
- Sildenafil
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Limb-girdle Muscular Dystrophy
MRI and Muscle Involvement in Patients With Mutations in GMPPB
Limb girdle muscular dystrophies (LGMD) are a very heterogeneous group of muscle disorders characterized by muscle weakness and atrophy of the proximal muscles of the shoulder and pelvic girdles.
- Trial name
- NCT02635321
- Where
- Denmark
- Volunteers
- 4 people
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Arthrogryposis Multiplex Congenita (AMC)
Pediatric and Adult Registry for Patients With ARThrogryposis
The aim of the study is Epidemiological Evaluation of a single-centre national cohort of patients with Arthrogryposis multiplex congenita (AMC)
- Trial name
- PARART (NCT05673265)
- Where
- France
- Volunteers
- 230 people, healthy volunteers welcome
- Sponsor
- University Hospital, Grenoble
Duchenne Muscular Dystrophy, Becker Muscular Dystrophy
Brain Involvement in Dystrophinopathies Part 2
The objective of this study is to understand the relationship between DMD and BMD brain comorbidities, and the location of the gene mutation which causes the disease.
- Trial name
- NCT04668716
- Where
- 7 sites in Denmark, France and 4 more
- Volunteers
- 339 people, healthy volunteers welcome
- Sponsor
- Great Ormond Street Hospital for Children NHS Foundation Trust
Muscular Dystrophies
The Efficacy of Using Far Infrared Radiation to Manage Muscular Dystrophies
The muscular dystrophies (MD) are a group of more than 30 neuromuscular disorders that are characterized by progressive skeletal muscle weakness, defects in muscle proteins and the death of muscle cells and tissue.
- Trial name
- NCT00674843
- Testing
- Far Infrared Radiation
- Where
- Canada
- Volunteers
- 4 people
- Sponsor
- GAAD Medical Research Institute Inc.
MELAS Syndrome, Noninsulin-dependent Diabetes Mellitus With Deafness
Mitochondrial nt3243 A>G Mutation in Taiwan
Mitochondrial diseases are multisystem disorders that present with a wide range of clinical manifestations. Mitochondrial DNA nt3243A>G mutation is one of the most common mutations seen in mitochondrial diseases.
- Trial name
- NCT02114554
- Where
- Taiwan
- Volunteers
- 40 people
- Sponsor
- National Taiwan University Hospital
Muscular Dystrophies
Gene Transfer Therapy for Treating Children and Adults With Limb Girdle Muscular Dystrophy Type 2D (LGMD2D)
Limb girdle muscular dystrophy type 2D (LGMD2D) is a genetic disease that affects skeletal muscle. Insufficient levels of the protein alpha-sarcoglycan result in muscle weakness that worsens over time.
- Trial name
- NCT00494195
- Testing
- rAAV1.tMCK.human-alpha-sarcoglycan- First cohort, Genetic: rAAV1.tMCK.human-alpha-sarcoglycan- Second cohort
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Nationwide Children's Hospital
Cerebral Palsy, Muscular Dystrophies
Turkish Version of The Measure of Processes of Care (MPOC)
Family-centred care (FCS) is considered the best practice in providing rehabilitation to children with disabilities and special needs.
- Conditions
- Cerebral Palsy, Muscular Dystrophies, Autism Spectrum Disorder, Traumatic Brain Injury
- Trial name
- NCT03508583
- Testing
- Participation
- Volunteers
- 300 people
- Sponsor
- Hacettepe University
Osteoporosis, Duchenne Muscular Dystrophy
Effects of Low-level Mechanical Vibration on Bone Density in Ambulant Children Affected by Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is a X-linked recessive disorder due to a mutation of the dystrophin gene (Xp21). Dystrophin is a sarcolemmal protein of skeletal and cardiac muscle, and its absence causes progressive muscle…
- Trial name
- NCT05281120
- Testing
- Low-level mechanical vibrations WITH vertical sinusoidal acceleration, Low-level mechanical vibrations WITHOUT vertical sinusoidal acceleration
- Volunteers
- 20 people
- Sponsor
- Istituto Auxologico Italiano
Duchenne Muscular Dystrophy
Phase 1/2a for Safety, PK and PD of SQY51 in Paediatric and Adult Patients Duchenne Muscular Dystrophy
This is a Phase 1/2a, monocentric, open label study to evaluate the safety, pharmacokinetics, and pharmacodynamics of SQY51 in patients with Duchenne muscular dystrophy
- Trial name
- AVANCE1 (NCT05753462)
- Testing
- Phase 1, SQY51, Phase 2a, SQY51 (cohort 1), Phase 2a, SQY51 (cohort 2)
- Where
- France
- Volunteers
- 12 people
- Sponsor
- Sqy Therapeutics
Duchenne Muscular Dystrophy, Duchenne Disease
Evaluating VM100 Nutritional Supplement for Improving Quality of Life in Duchenne Muscular Dystrophy Patients
This pilot study will investigate the potential efficacy of VM100, a nutritional supplement specifically formulated for patients with DMD, on quality of life and physical symptoms.
- Conditions
- Duchenne Muscular Dystrophy, Duchenne Disease, Muscular Dystrophy in Children, DMD
- Trial name
- NCT07766980
- Testing
- VM100 Nutritional Supplement
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- University of Florida
Cardiomyopathy, Arrhythmia
Genetics of Cardiovascular and Neuromuscular Disease
We are studying the genetics of human cardiovascular and neuromuscular disease. There are many different genetic regions that have been associated with the development of cardiomyopathy.
- Conditions
- Cardiomyopathy, Arrhythmia, Muscular Dystrophy
- Trial name
- NCT00138931
- Testing
- Blood draw (genetic testing)
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- University of Chicago
Duchenne Muscular Dystrophy, Becker Muscular Dystrophy
Phase 2B Study of PTC124 (Ataluren) in Duchenne/Becker Muscular Dystrophy (DMD/BMD)
DMD/BMD 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
- NCT00592553
- Testing
- Ataluren
- Where
- 37 sites in United States, Australia and 9 more
- Volunteers
- 174 people
- Sponsor
- PTC Therapeutics
Freeman-Sheldon Syndrome, Arthrogryposis Distal Type 2A
Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome
Freeman-Sheldon syndrome (FSS) is a rare muscle disorder present before birth, involving primarily problems of the face and skull and the hands and feet.
- Conditions
- Freeman-Sheldon Syndrome, Arthrogryposis Distal Type 2A, Whistling Face Syndrome, Craniocarpotarsal Dysplasia
- Trial name
- STOP-FSS (NCT01144741)
- Testing
- PTSD Checklist-Civilian (PCL-C), Modified Flanagan Quality of Life Scale, Center for Epidemiologic Studies Depression Scale (CES-D)
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Freeman-Sheldon Research Group, Inc.
ALS, Autism Spectrum Disorder
Pharmacokinetic (PK) and Pharmacodynamics (PD) Study of Ilera Specific Products
This is an observational study of medical marijuana manufactured and dispensed by Ilera and given as standard treatment for a variety of approved serious medical conditions as defined by individual state law.
- Conditions
- ALS, Autism Spectrum Disorder, Cancer, Spasticity, Muscle
- Trial name
- Ilera (NCT03886753)
- Testing
- Registry, PK microsampling of blood
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Children's Hospital of Philadelphia
Duchenne Muscular Dystrophy
Phase III Study With Idebenone in Patients With Duchenne Muscular Dystrophy (SIDEROS-E)
The purpose of the study is to assess the long-term safety and efficacy of idebenone in patients with Duchenne muscular dystrophy (DMD) who completed the SIDEROS study.
- Trial name
- SIDEROS-E (NCT03603288)
- Testing
- idebenone 150 mg film-coated tablets
- Where
- 39 sites in United States, Austria and 7 more
- Volunteers
- 161 people
- Sponsor
- Santhera Pharmaceuticals
Duchenne Muscular Dystrophy
Virtual Reality in Individuals With Duchenne Muscular Dystrophy
With the growing accessibility of computer-assisted technology, one option for rehabilitation programs for individuals with Duchenne muscular dystrophy (DMD) is the use of virtual reality environments to enhance motor practice.
- Trial name
- NCT03002298
- Testing
- DMD gesture task, DMD button-press task, Control group gesture task
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- University of Sao Paulo
Duchenne Muscular Dystrophy, Gait Disorders in Children
Development of a New Instrument to Evaluate Gait Characteristics of Individuals With Duchenne Muscular Dystrophy
The aim of this study was to develop a gait assessment instrument for Duchenne Muscular Dystrophy patients (DMD-GAS), and investigate its validity and reliability.The scale was developed considering the expert opinions which…
- Conditions
- Duchenne Muscular Dystrophy, Gait Disorders in Children, Gait Disorders, Neurologic
- Trial name
- NCT05244395
- Testing
- Duchenne Muscular Dystrophy Gait Assessment Scale
- Where
- Turkey (Türkiye)
- Volunteers
- 56 people
- Sponsor
- Hacettepe University
MELAS Syndrome
Glutamine Supplement in MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes) Syndrome
The purpose of this study is to assesses the efficacy of oral supplementation with glutamine over three months on several amino acids and lactate concentration measured in cerebrospinal fluid and cerebral lactate measured by…
- Trial name
- NCT04948138
- Testing
- Glutamine oral supplementation
- Where
- Spain
- Volunteers
- 9 people
- Sponsor
- Jesús González de la Aleja Tejera
Centronuclear Myopathy
Early Phase Human Drug Trial to Investigate DYN101 in Participants 2 to 17 Years With Centronuclear Myopathies
There are no available treatments aside from supportive care for patients with Centronuclear myopathy (CNM). This trial will assess the safety and tolerability as well as pharmacokinetics (PK), pharmacodynamics (PD) and…
- Trial name
- DyNaMic (NCT04743557)
- Testing
- DYN101
- Where
- 2 sites in France, Germany
- Sponsor
- Dynacure
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