Clinical trials: Mitochondrial Myopathies
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 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
Primary Mitochondrial Disease
An Observational Study of Patients With Primary Mitochondrial Disease (SPIMM-300)
This is an observational study of patients with Primary Mitochondrial Disease with either signs or symptoms suggestive of myopathy.
- Trial name
- RePOWER (NCT03048617)
- Where
- 33 sites in United States, Australia and 7 more
- Volunteers
- 215 people
- Sponsor
- Stealth BioTherapeutics 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
Primary Mitochondrial Disease
Open-Label Extension Trial to Characterize the Long-term Safety and Tolerability of Elamipretide in Subjects With Genetically Confirmed Primary Mitochondrial Myopathy (PMM)
This is a Phase 2 Open-Label extension study to evaluate the long term safety and tolerability of daily elamipretide injections in patients with genetically confirmed Primary Mitochondrial Disease who previously participated in…
- Trial name
- NCT02976038
- Testing
- elamipretide
- Where
- 4 sites in United States
- Volunteers
- 28 people
- Sponsor
- Stealth BioTherapeutics Inc.
Inherited Mitochondrial Disease
A Safety Study for Previously Treated Vatiquinone (PTC743) Participants With Inherited Mitochondrial Disease
The primary objective of this study is to assess the safety of vatiquinone in participants with inherited mitochondrial disease who had prior exposure to vatiquinone in a PTC/BioElectron sponsored (previously Edison) clinical…
- Trial name
- NCT05218655
- Testing
- Vatiquinone
- Where
- 26 sites in United States, France and 5 more
- Volunteers
- 101 people
- Sponsor
- PTC Therapeutics
Myalgic Encephalomyelitis
Effect of CoQ10 Plus Selenium Supplementation on Clinical Outcomes and Biochemical Markers in ME/CFS (CoSeME Study)
In recent years, it has been suggested that nutritional deficiencies may be of causal relevance in individuals with ME/CFS. These include deficiencies of vitamins and trace elements.
- Trial name
- CoSeME (NCT05128292)
- Testing
- CoQ10 plus Selenium
- Where
- Spain
- Volunteers
- 42 people
- Sponsor
- Hospital Universitari Vall d'Hebron Research Institute
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
Mitochondrial Diseases, Maternally Inherited Diabetes and Deafness (MIDD)
KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Diseases
The KHENERFIN study aims to determine whether the study medicine, sonlicromanol, is able to reduce symptoms of fatigue and the impact of fatigue on daily life, and whether sonlicromanol is able to improve physical abilities of…
- Conditions
- Mitochondrial Diseases, Maternally Inherited Diabetes and Deafness (MIDD), Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS), Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation
- Trial name
- KH176-301 (NCT06451757)
- Testing
- Sonlicromanol
- Where
- 10 sites in United States, Denmark and 5 more
- Volunteers
- 220 people
- Sponsor
- Khondrion BV
Mitochondrial Encephalomyopathies, Hereditary Spastic Paraplegia
Natural History Study of Patients with HPDL Mutations
This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations
- Conditions
- Mitochondrial Encephalomyopathies, Hereditary Spastic Paraplegia, Spastic Paraplegia, White Matter Disease
- Trial name
- NCT05848271
- Testing
- Patient Registry, Dry blood spots sampling
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- University of California, San Diego
Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) (ICD-10 G93.3)
Investigating the Effects of Intermittent Hypoxia-Hyperoxia Treatment (IHHT) in People With Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) to Improve Fatigue, Pain, and Quality of Life by Targeting Mitochondrial Dysfunction and Autonomic Nervous System Impairment
This study is testing a new treatment for people with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) and long-term symptoms after COVID-19.
- Trial name
- REenergizeME (NCT07317401)
- Testing
- Intermittent hypoxia-hyperoxia treatment (IHHT)
- Where
- Denmark
- Volunteers
- 104 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
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
Muscular Dystrophies, Congenital Myopathy
Assessment of Safety and Acute Effects of a Knee-hip Powered Soft Exoskeleton in Patients With Neuromuscular Disorders
The aims of the current study are as follow: i) Evaluate the safety, usability, and acute efficiency of a powered knee-hip dermoskeleton (MyoSuit, MyoSwiss, Zurich, Switzerland) in patients with neuromuscular disorders, ii)…
- Conditions
- Muscular Dystrophies, Congenital Myopathy, Idiopathic Inflammatory Myopathies, Mitochondrial Myopathies
- Trial name
- Exo-NMD1 (NCT05200702)
- Testing
- Knee-hip Powered Soft Exoskeleton (MyoSuit, MyoSwiss, Zurich, Switzerland)
- Where
- France
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Institut de Myologie, France
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
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
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
Chronic Fatigue Syndrome (CFS), Myalgic Encephalomyelitis (ME)
The Synergy Trial: Methylphenidate Plus a CFS-Specific Nutrient Formula as a Treatment for Chronic Fatigue Syndrome
The Synergy Trial will evaluate the safety and efficacy of a currently available medication (methylphenidate hydrochloride) combined with a CFS-specific dietary supplement (CFS Nutrient Formula) to treat Chronic Fatigue Syndrome…
- Trial name
- NCT01966276
- Testing
- Methyl-P plus Nutrient Formula
- Where
- 4 sites in United States
- Volunteers
- 134 people
- Sponsor
- K-PAX Pharmaceuticals, Inc.
Mitochondrial Diseases, Kearns-Sayre Syndrome
Global Registry and Natural History Study for Mitochondrial Disorders
The main goal of the project is provision of a global registry for mitochondrial disorders to harmonize previous national registries, enable world-wide participation and facilitate natural history studies, definition of outcome…
- Conditions
- Mitochondrial Diseases, Kearns-Sayre Syndrome, MIDD, SANDO
- Trial name
- GENOMIT (NCT05554835)
- Where
- 34 sites in Austria, Germany and 1 more
- Volunteers
- 6,000 people
- Sponsor
- LMU Klinikum
Metabolism, Inborn Errors, Lipid Metabolism, Inborn Errors
Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy
This study aims to characterize the pathophysiological mechanisms of 21 different metabolic myopathies. The study will focus on exercise capacity and the metabolic derangement during exercise.
- Conditions
- Metabolism, Inborn Errors, Lipid Metabolism, Inborn Errors, Carbohydrate Metabolism, Inborn Errors, Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
- Trial name
- NCT02635269
- Testing
- Sugar
- Where
- Denmark
- Volunteers
- 60 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