Clinical trials: Muscle Function, Mitochondrial Function
Barth Syndrome
Resistance Exercise in Barth Syndrome
Barth syndrome (BTHS) is a disorder that is characterized by heart failure, exercise intolerance and skeletal muscle weakness. Preliminary evidence demonstrates that endurance exercise training does not significantly improve…
- Trial name
- NCT01629459
- Testing
- Resistance exercise and protein supplementation
- Where
- United States
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
Barth Syndrome
Heart and Muscle Metabolism in Barth Syndrome
Barth syndrome (BTHS) is an X-linked disorder caused by abnormal cardiolipin metabolism and is characterized by skeletal and cardiomyopathy and high mortality rates.
- Trial name
- NCT01625663
- Where
- United States
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- Duke University
Mitochondrial Myopathies
NiaMIT Continuation With Early-stage Mitochondrial Myopathy Patients
The most frequent form of adult-onset mitochondrial disorders is mitochondrial myopathy, often manifesting with progressive external ophthalmoplegia (PEO), progressive muscle weakness and exercise intolerance.
- Trial name
- NCT04538521
- Testing
- Niacin
- Where
- Finland
- Volunteers
- 3 people
- Sponsor
- University of Helsinki
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Prader-Willi Syndrome
Mitochondrial Complex I Dysfunction in PWS
Prader-Willi Syndrome (PWS) is characterized by profound infantile hypotonia, growth delay, cognitive impairment, muscle weakness and exercise intolerance.
- Trial name
- NCT03831425
- Testing
- Coenzyme Q10
- Where
- Canada
- Sponsor
- The Hospital for Sick Children
Mitochondrial Myopathies
Niacin Supplementation in Healthy Controls and Mitochondrial Myopathy Patients
The most frequent form of adult-onset mitochondrial disorders is mitochondrial myopathy, often manifesting with progressive external ophthalmoplegia (PEO), progressive muscle weakness and exercise intolerance.
- Trial name
- NiaMIT (NCT03973203)
- Testing
- Niacin
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- University of Helsinki