Clinical trials: Mitochondrial Myopathies
Thymidine Kinase 2 (TK2 ) Deficiency, Mitochondrial Myopathies
Doxecitin and Doxribthymine in Adult Subjects With Thymidine Kinase 2 (TK2) Deficiency
The purpose of this clinical trial is to evaluate the efficacy and safety of Doxecitin and Doxribtimine (dC+dT) in adult participants with thymidine kinase 2 (TK2) deficiency attended in the Neuromuscular Unit of '12 de Octubre'…
- Trial name
- NCT06754098
- Testing
- Doxecitine and Doxribtimine
- Where
- Spain
- Volunteers
- 15 people
- Sponsor
- Cristina Domínguez González
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
MELAS, LHON
A Dose-escalating Clinical Trial With KH176
Mitochondrial Diseases are rare progressive, multi-system, often early fatal disorders affecting both children and adults. KH176 is a novel chemical entity currently under development for the treatment of inherited mitochondrial…
- Conditions
- MELAS, LHON, Leigh Syndrome, Mitochondrial Disease
- Trial name
- NCT02544217
- Testing
- KH176
- Where
- Belgium
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Khondrion BV
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
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
Mitochondrial Disease
Defining 31Phosphorous Magnetic Resonance Spectroscopy Characteristics in Patients With Mitochondrial Myopathy
This is a developmental protocol to determine the MRI based 31P-MRS changes seen in subjects with mitochondrial myopathy using our dynamic exercise protocol and to identify the ideal variable(s) to represent mitochondrial…
- Trial name
- NCT01301235
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- Massachusetts General Hospital
Mitochondrial Disease, Chronic Kidney Disease
Expanded Access Program for R007 (Probucol) Tablets in Adults With Mitochondrial Disease and Chronic Kidney Disease
The purpose of this expanded access program is to enable access to R007 (probucol) tablets for the compassionate treatment of adults with mitochondrial disease who also have chronic kidney disease.
- Trial name
- NCT06931834
- Testing
- Probucol
- Where
- United States
- Sponsor
- RiboNova Inc.
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
Mitochondrial Diseases, Myalgic Encephalomyelitis Chronic Fatigue Syndrome
The Precision Mito- Mito Map COMPASS Study
Mito Map is a research tool that produces an Energy Score from information provided by a participant. This remote observational study has an initial enrollment target of 400 adults across seven prespecified cohorts: healthy…
- Conditions
- Mitochondrial Diseases, Myalgic Encephalomyelitis Chronic Fatigue Syndrome, Post-COVID-19 Condition, Postural Orthostatic Tachycardia Syndrome
- Trial name
- COMPASS (NCT07856121)
- Testing
- Mito Map Energy Score and Home Functional Assessments
- Where
- United States
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- AI Agent Vault, Inc. d/b/a Precision Mito
Mitochondrial Disorders, Mitochondrial Disease
Tissue Sample Study for Mitochondrial Disorders
The investigators are studying patients with undefined mitochondrial diseases to identify genetic mutations in nuclear or mitochondrial Deoxyribonucleic Acid (DNA).
- Conditions
- Mitochondrial Disorders, Mitochondrial Disease, Melas, Kearns Sayer
- Trial name
- NCT01803906
- Where
- United States
- Volunteers
- 6,900 people, healthy volunteers welcome
- Sponsor
- Columbia University
Mitochondrial Myopathies, Mitochondrial Diseases
Mitochondrial Dysfunctions Driving Insulin Resistance
The overarching aim of this observational study is to characterize muscle mitochondrial defects in individuals harboring pathogenic mitochondrial DNA (mtDNA) mutations associated with an insulin-resistant phenotype.
- Conditions
- Mitochondrial Myopathies, Mitochondrial Diseases, Mitochondrial Disorders
- Trial name
- MITO-DYS-IR (NCT06080581)
- Where
- Denmark
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Chronic Fatigue Syndrome
Therapy for Chronic Fatigue Syndrome: A Presumptive Mitochondrial Disorder
The purpose of this study is to determine whether therapy that has been shown to be beneficial for mitochondrial diseases is also beneficial for Chronic Fatigue Syndrome (CFS) patients.
- Trial name
- NCT01872351
- Testing
- Nutraceuticals
- Where
- United States
- Sponsor
- Columbia University
Primary Mitochondrial Disease
Efficacy of KL1333 in Adult Patients With Primary Mitochondrial Disease
The primary objective of the FALCON study is to evaluate the efficacy of KL1333 on selected disease manifestations of primary mitochondrial disease (PMD) following 48 weeks of treatment.
- Trial name
- FALCON (NCT05650229)
- Testing
- KL1333
- Where
- 55 sites in United States, Australia and 9 more
- Volunteers
- 180 people
- Sponsor
- Pharming Technologies B.V.
Muscular Dystrophies, Congenital Myopathy
Assessment of Safety and Acute Effects of a Lower-limb Powered Dermoskeleton in Patients With Neuromuscular Disorders
The aims of the current study are as follow: i) Evaluate the safety, usability, and acute efficiency of a programmable ambulation exoskeleton (KeeogoTM Dermoskeleton System, B-Temia Inc., Quebec, Canada) in patients with…
- Conditions
- Muscular Dystrophies, Congenital Myopathy, Idiopathic Inflammatory Myopathies, Mitochondrial Myopathies
- Trial name
- Exo-KGO1 (NCT05199246)
- Testing
- Lower-limb powered dermoskeleton
- Where
- France
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Institut de Myologie, France
Mitochondrial Diseases, Mitochondrial Myopathy
Exercise Training Effects on Muscle Function in Adults With Mitochondrial Myopathy
The goal of this observational study is to learn how exercise training affects molecular processes in skeletal muscle in adults with mitochondrial myopathy, compared with healthy adults.
- Trial name
- MM-EX (NCT07450690)
- Testing
- Unilateral high-intensity interval training (HIIT)
- Where
- Denmark
- Volunteers
- 22 people, healthy volunteers welcome
- Sponsor
- University of Copenhagen
Mitochondrial Myopathies
Effect and Safety MABs Administration m.3243A>G Mutation Carriers
The first primary objective is to assess the effect of three intra-arterial administrations of autologous mesoangioblasts (MABs) with respect to improving muscle strength and reduce fatigue of the treated biceps brachii (BB)…
- Trial name
- NCT05962333
- Testing
- Intra-arterial delivery of autologous MABs
- Where
- Netherlands
- Volunteers
- 20 people
- Sponsor
- Maastricht University
Mitochondrial Myopathy
Safety, Tolerability, and Efficacy of MTP-131 for the Treatment of Mitochondrial Myopathy
Phase 1/2, multi-center, randomized, double-blind, multiple ascending dose, placebo-controlled study that enrolled 36 subjects with mitochondrial myopathy associated with genetically confirmed mitochondrial disease to evaluate…
- Trial name
- MMPOWER (NCT02367014)
- Testing
- elamipretide (low dose), elamipretide (intermediate dose), elamipretide (high dose)
- Where
- 4 sites in United States
- Volunteers
- 36 people
- Sponsor
- Stealth BioTherapeutics Inc.
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
Fibromyalgia, Mitochondrial Diseases
Heart Rate Variability in Response to Metformin Challenge
Diseases caused by brain energy supply defects can be innate (fibromyalgia secondary to familial mitochondrial disorders) or acquired (tardive dyskinesia or weight gain associated with prolonged antipsychotic use).
- Conditions
- Fibromyalgia, Mitochondrial Diseases, Movement Disorders, Diabetes Mellitus, Type 2
- Trial name
- NCT02500628
- Testing
- Metformin
- Where
- United States
- Volunteers
- 61 people
- Sponsor
- Woodinville Psychiatric Associates
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