Clinical trials: Mitochondrial Myopathy
Mitochondrial Diseases, Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation
The KHENERGYC Study
This a randomized placebo controlled, double-blind phase II study to explore the pharmacokinetics, safety and efficacy of sonlicromanol in children (from birth to 17 years) with genetically confirmed mitochondrial disease of…
- Conditions
- Mitochondrial Diseases, Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation, MELAS, Subacute Necrotizing Encephalomyelopathy
- Trial name
- NCT04846036
- Testing
- Sonlicromanol
- Where
- Netherlands
- Volunteers
- 24 people
- Sponsor
- Khondrion BV
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
Dermatomyositis
Exercise Capacity of Patients with Dermatomyosis
Dermatomyositis (DM) patients experience muscle weakness and low aerobic capacities, which are associated with poor health status and increased mortality. The origin of this muscle impairment remains unknown.
- Trial name
- MIDE (NCT03293615)
- Testing
- exploration
- Where
- France
- Volunteers
- 3 people
- Sponsor
- University Hospital, Strasbourg, France
Mitochondrial Myopathies
Home Based Personalized Training and Video Consultation in Mitochondrial Myopathies: Study of Efficacy and Tolerance.
Positive effect of physical activity on health arouses a strong interest at international level and is developped within the scope of national programs.
- Trial name
- TELE-MIT (NCT05346627)
- Testing
- Personalized and mixed training program
- Where
- France
- Volunteers
- 15 people
- Sponsor
- Centre Hospitalier Universitaire de Nice
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
MELAS Syndrome, Ketogenic Dieting
Effectiveness of Ketogenic Diet in MELAS Syndrome
The goal of this clinical trial is to evaluate the effectiveness of ketogenic diet in patients with MELAS syndrome. The main questions it aims to answer are: Clarify the curative effects of ketogenic diet in the treatment of…
- Trial name
- NCT06013397
- Testing
- Ketogenic diet
- Where
- China
- Volunteers
- 100 people
- Sponsor
- Second Affiliated Hospital, Zhejiang University, School of Medicine
Inclusion Body Myositis, Myotonic Dystrophy
Development and Validation of the FBIndex to Determine the Risk of Falls for Patients With Neuromuscular Disorders
Currently, there are no standardised fall risk scores or guidelines on when to use appropriate assistive gait devices (AGDs) for people with neuromuscular disorders (NMDs).
- Conditions
- Inclusion Body Myositis, Myotonic Dystrophy, Limb-girdle and Facioscapulohumeral Muscular Dystrophies, Pompe Disease
- Trial name
- FBIndex (NCT06605612)
- Testing
- FBIndex
- Where
- Germany
- Volunteers
- 108 people
- Sponsor
- LMU Klinikum
Post-Acute Sequelae of SARS-CoV-2 (PASC) Infection
Efficacy, Safety, Tolerability of AXA1125 in Fatigue After COVID-19 Infection
This study will compare the effects of AXA1125, an orally active mixture of amino acids, compared to placebo, on improving muscle function (metabolism) following moderate exercise in subjects with fatigue-Predominant Post-Acute…
- Trial name
- NCT05152849
- Testing
- AXA1125
- Where
- United Kingdom
- Volunteers
- 41 people
- Sponsor
- Axcella Health, Inc
Mitochondrial Disorders, Mitochondrial Genetic Disorders
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.
- Conditions
- Mitochondrial Disorders, Mitochondrial Genetic Disorders, Mitochondrial Diseases, Disorder of Mitochondrial Respiratory Chain Complexes
- Trial name
- NAMDC (NCT01694940)
- Where
- 17 sites in United States, Canada
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Columbia University
Mitochondrial Myopathies, Healthy Controls
Diagnostic Screening Tests and Potential Biomarkers in Mitochondrial Myopathies
The purpose of this study is to develop simple diagnostic screeningtests and investigate potential biomarkers for identifying patients with abnormalities of mitochondrial function, which also can be used as outcome measures in…
- Trial name
- NCT03513835
- Testing
- Diagnostic screenings tests
- Where
- Denmark
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Chronic Fatigue Syndrome
Chronic Fatigue Syndrome: A Presumptive Mitochondrial Disorder
The pathogenesis of chronic fatigue syndrome (CFS) is poorly understood and no effective therapy has been developed. Recent studies suggest that a preceding viral infection causes mitochondrial dysfunction of the brain and…
- Trial name
- CFS:M (NCT01471652)
- Testing
- Nutraceutical supplements
- Where
- United States
- Sponsor
- Columbia University
MELAS Syndrome
L-Citrulline Dose Finding Safety Study in MELAS
The main purpose of this study is to determine the safest maximum dose of an amino acid, citrulline, which will be used as potential treatment for adult patients with a disorder of energy metabolism called Mitochondrial…
- Trial name
- NCT03952234
- Testing
- L-Citrulline
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Baylor College of Medicine
Mitochondrial Diseases
A Study of Bezafibrate in Mitochondrial Myopathy
The purpose of this study is to gather preliminary data on whether bezafibrate can improve cellular energy production in mitochondrial disease.
- Trial name
- NCT02398201
- Testing
- Bezafibrate
- Where
- United Kingdom
- Volunteers
- 6 people
- Sponsor
- Newcastle-upon-Tyne Hospitals NHS Trust
Myopathy, HMG COA Reductase Inhibitor Adverse Reaction
Evaluation of Ubiquinol on Mitochondrial Oxidative Capacity in Statin Patients Using 31PMRS
It is our primary hypothesis that statin drugs impair skeletal muscle mitochondrial function and that ubiquinol (the reduced active form of CoQ10) supplementation will block impairment of PCr recovery kinetics in patients using…
- Conditions
- Myopathy, HMG COA Reductase Inhibitor Adverse Reaction, Hypercholesterolemia
- Trial name
- NCT01702987
- Testing
- ubiquinol, statin
- Where
- United States
- Volunteers
- 22 people
- Sponsor
- Beth Israel Deaconess Medical Center
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Primary Mitochondrial Disease
Safety, Tolerability, Efficacy of MTP-131 for Treatment of Mitochondrial Disease in Subjects From the MMPOWER Study
This randomized, double-blind, placebo-controlled, crossover study screened 32 subjects with primary mitochondrial myopathy (PMM) to evaluate the safety, tolerability, pharmacokinetics (PK), and efficacy of subcutaneous…
- Trial name
- MMPOWER-2 (NCT02805790)
- Testing
- Elamipretide
- Where
- 4 sites in United States
- Volunteers
- 30 people
- Sponsor
- Stealth BioTherapeutics Inc.
MELAS Syndrome
Study of Idebenone in the Treatment of Mitochondrial Encephalopathy Lactic Acidosis & Stroke-like Episodes
The purpose of this study is to compare the efficacy of two (2) different doses of idebenone with that of a placebo over a one month period on cerebral lactate concentration as measured by magnetic resonance spectroscopy.
- Trial name
- MELAS (NCT00887562)
- Testing
- Idebenone
- Where
- United States
- Volunteers
- 27 people
- Sponsor
- Michio Hirano
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
MELAS Syndrome
Clinical Long Term Evaluation of Glutamine Supplement in MELAS Syndrome
The purpose of this study is to assesses the clinical efficacy of oral supplementation with glutamine over 3 years.
- Trial name
- NCT05255328
- Testing
- Glutamine oral supplement
- Where
- Spain
- Volunteers
- 9 people
- Sponsor
- Hospital Universitario 12 de Octubre
Mitochondrial Myopathies, Mitochondrial Diseases
Exercise-mediated Rescue of Mitochondrial Dysfunctions Driving Insulin Resistance
The overarching aim of this intervention study is to interrogate the interconnection between the muscle mitochondrial adaptations and the changes in muscle insulin sensitivity elicited by exercise training in individuals…
- Conditions
- Mitochondrial Myopathies, Mitochondrial Diseases, Mitochondrial Disorders
- Trial name
- EX-MITO-DYS-IR (NCT06080594)
- Testing
- High-intensity exercise training
- Where
- Denmark
- Volunteers
- 11 people
- Sponsor
- Copenhagen University Hospital, Rigshospitalet