Clinical trials: Mitochondrial Myopathies
Mitochondrial Myopathies, Mitochondrial Diseases
Applying pGz in Mitochondrial Disease
This is a multi-aim study, studying the effects of conventional exercise (measured through Cardiopulomary Exercises Testing or an in-bed pedal exercise) and passive exercise through periodic acceleration (pGz).
- Trial name
- NCT05569122
- Testing
- Cardiopulmonary Exercise Testing, pGz Bed, Gentle Jogger
- Where
- United States
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
Primary Mitochondrial Myopathy
An Efficacy and Safety Study of 24 Week Treatment With Mavodelpar (REN001) in Primary Mitochondrial Myopathy Patients
This is a randomized, double-blind, placebo-controlled, parallel group, multi-centre, study designed to investigate the efficacy and safety of REN001 administered once daily over a 24-week period to patients with PMM.
- Trial name
- STRIDE (NCT04535609)
- Testing
- Mavodelpar
- Where
- 41 sites in United States, Australia and 13 more
- Volunteers
- 213 people
- Sponsor
- Reneo Pharma Ltd
Mitochondrial Disease
Study of N-acetylcysteine in the Treatment of Patients With the m.3243A>G Mutation and Low Brain Glutathione Levels
N-Acetylcysteine (NAC), an anti-oxidant, will be studied to investigate the effects on brain glutathione levels, cognitive skills, motor skills, and quality of life.
- Trial name
- NCT05241262
- Testing
- N-Acetylcysteine
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- Michio Hirano, MD
MELAS Syndrome
L-arginine Therapy on Endothelium-dependent Vasodilation & Mitochondrial Metabolism in MELAS Syndrome
MELAS patients suffer from exercise intolerance, weakness, poor vision or blindness, poor growth, developmental delay, and deafness.
- Trial name
- NCT01603446
- Testing
- L-Arginine
- Where
- Canada
- Volunteers
- 7 people, healthy volunteers welcome
- Sponsor
- The Hospital for Sick Children
Primary Mitochondrial Disease
OMT-28 in Patients With Primary Mitochondrial Disease (PMD) (PMD-OPTION)
The goal of this clinical trial is to learn about the treatment effects of the investigational new drug OMT-28 in patients with Primary Mitochondrial Disease.
- Trial name
- PMD-OPTION (NCT05972954)
- Testing
- OMT-28
- Where
- 9 sites in Germany, Italy and 1 more
- Volunteers
- 28 people
- Sponsor
- Omeicos Therapeutics GmbH
Becker Muscular Dystrophy
Use of (-)-Epicatechin in the Treatment of Becker Muscular Dystrophy (Pilot Study)
(-)-Epicatechin will be evaluated for the treatment of progressive muscle loss and impaired skeletal muscle function in Becker Muscular Dystrophy (BMD) patients.
- Trial name
- NCT01856868
- Testing
- (-)-epicatechin
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- Craig McDonald, MD
Peripheral Neuropathy, Mitochondrial Trifunctional Protein Deficiency
Vitamin E Treatment for Long-Chain 3-Hydroxyacyl Coenzyme A (CoA) Dehydrogenase (LCHAD) Associated Neuropathy
Purpose: People with a genetic defect in the ability to burn fat can also develop a problem with the nerves in their feet. The nerve problem, or neuropathy, can limit their ability to walk.
- Trial name
- NCT00840112
- Testing
- Vitamin E supplement
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Oregon Health and Science University
Pain, Neck, Pain, Back
Evaluation of Mitochondrial Function in Myofascial Trigger Points Cohort Pilot Study Using High-resolution Respirometry
This pilot study established a minimally invasive biopsy technique to obtain high-quality MTrP tissue samples to evaluate mitochondrial function via high-resolution respirometry.
- Conditions
- Pain, Neck, Pain, Back, Myofascial Trigger Point Pain, Myofascial Pain
- Trial name
- MitoTrigger (NCT03704311)
- Testing
- Muscle biopsy
- Volunteers
- 20 people
- Sponsor
- Medical University Innsbruck
MDC1A, SELENON-related Myopathy
The Natural History of Patients With Mutations in SEPN1 (SELENON) or LAMA2
SEPN1 (SELENON) is a rare congenital myopathy due to mutations in the SELENON gene. MDC1A is a rare congenital muscle dystrophy due to mutations in the LAMA2 gene.
- Trial name
- NCT04478981
- Testing
- No intervention
- Where
- Netherlands
- Volunteers
- 38 people
- Sponsor
- Radboud University Medical Center
Primary Mitochondrial Myopathy
A Study to Evaluate ASP0367 in Participants With Primary Mitochondrial Myopathy
The purpose of this study was to evaluate the dose response of Bocidelpar on functional improvement relative to placebo, safety, and tolerability in participants with Primary Mitochondrial Myopathy.
- Trial name
- MOUNTAINSIDE (NCT04641962)
- Testing
- Bocidelpar
- Where
- 11 sites in United States
- Volunteers
- 34 people
- Sponsor
- Astellas Pharma Inc
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
Statin Adverse Reaction, Statin-induced Myopathy
Metabolic and Mitochondrial Changes in Statin-Induced Myopathy
The goal of this observational study is to learn whether statin-related muscle symptoms are linked to problems in fat metabolism in muscle cells, specifically involving acylcarnitines, in adults taking or not taking statins.
- Trial name
- NCT07511686
- Testing
- Blood sampling and laboratory assessment, Muscle biopsy
- Where
- Latvia
- Volunteers
- 38 people, healthy volunteers welcome
- Sponsor
- Riga Stradins University
Mitochondrial Diseases
A Long-term Extension of Study RP103-MITO-001 (NCT02023866) to Assess Cysteamine Bitartrate Delayed-release Capsules (RP103) in Children With Inherited Mitochondrial Disease
A long-term extension study to assess the safety, tolerability and efficacy of cysteamine bitartrate delayed-release capsules (RP103) in children with inherited mitochondrial diseases who previously enrolled into study…
- Trial name
- NCT02473445
- Testing
- Cysteamine Bitartrate
- Where
- 5 sites in United States
- Volunteers
- 22 people
- Sponsor
- Amgen
Inherited Mitochondrial Disease, Including Leigh Syndrome
Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease
To evaluate safety, tolerability and efficacy of cysteamine bitartrate delayed-release capsules (RP103) administered at a target maintenance dose of 1.3 g/m²/day in two divided doses, every 12 hours, for up to 6 months in…
- Trial name
- MITO-001 (NCT02023866)
- Testing
- Cysteamine Bitartrate
- Where
- 5 sites in United States
- Volunteers
- 36 people
- Sponsor
- Amgen
Mitochondrial Myopathies, Mitochondrial Diseases
Validation of Oxygen Nanosensor in Mitochondrial Myopathy
Past mitochondrial disease treatment studies have been unsuccessful in determining treatment efficacy, and a major factor has been the lack of validated biomarkers in mitochondrial myopathy (MM).
- Trial name
- NCT04086329
- Testing
- Nanosensor
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
Statin Intolerance
Effects of Epicatechin on Statins for Mitochondrial Dysfunction and Impaired Exercise Capacity
The purpose of this study is to gain insight into the side-effects of statin consumption, and assess the ability of epicatechin (a compound in dark chocolate) to counteract or reverse these changes.
- Trial name
- NCT02490527
- Testing
- Pure epicatechin capsules (50mg), Simvastatin (40mg)
- Where
- United States
- Volunteers
- 19 people, healthy volunteers welcome
- Sponsor
- University of California, San Diego
MELAS
Phase 2a Study of IW-6463 in Adults Diagnosed With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS)
This is a single-arm study to evaluate safety and tolerability of oral IW-6463 in adults diagnosed with MELAS.
- Trial name
- NCT04475549
- Testing
- IW-6463 Tablets
- Where
- 5 sites in United States
- Volunteers
- 8 people
- Sponsor
- Tisento Therapeutics
Mitochondrial Myopathies
mtDNA Mutation Load Analysis in Mesoangioblasts
Mitochondrial diseases caused by defects in oxidative phosphorylation (OXPHOS) due to heteroplasmic mitochondrial DNA (mtDNA) mutations are rare (frequency 1/5,000), but severe multi-system disorders.
- Trial name
- MABS05 (NCT05199740)
- Testing
- in vitro analysis
- Where
- Netherlands
- Volunteers
- 30 people
- Sponsor
- Maastricht University