Clinical trials: MItochondrial Myopathies
MItochondrial Myopathies
Role of AMPKalpha2 in Myonuclear Accretion in Mitochondrial Myopathies
Mitochondrial cytopathies are a heterogeneous group of rare inherited diseases characterized by primary mitochondrial dysfunction caused by a pathogenic mutation located either in nuclear DNA or mitochondrial DNA.
- Trial name
- MITOMYO (NCT07920562)
- Testing
- Analysis of signaling pathway : AMPK
- Where
- France
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
MItochondrial Myopathies, Mitochondrial Disease
Validation of Nanosensor Oxygen Measurement
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
- NCT06819683
- Testing
- Nanosensor
- Where
- United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
Primary Mitochondrial Disease
Natural History Study of Mitochondrial Myopathy
The goal of this observational study is to develop and validate tools to measure disease course in patients with primary mitochondrial myopathy (PMM).
- Trial name
- NCT05250375
- Where
- United States
- Volunteers
- 1,300 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
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
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
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, 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
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, 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
Mitochondrial Diseases, Mitochondrial Myopathies
Human Mitochondrial Stress-driven Obesity Resistance
The overarching aim of this observational study is to determine alterations in energy balance while exploring the underlying cellular mechanisms in human genetic models of mitochondrial stress.
- Conditions
- Mitochondrial Diseases, Mitochondrial Myopathies, Mitochondrial Disorder
- Trial name
- MITO-OB-RES (NCT06080568)
- Where
- Denmark
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
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
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
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
Spinal Muscular Atrophy Type 3, Mitochondrial Myopathy
Oxidative Capacity and Exercise Tolerance in Ambulatory SMA
This proposal will focus on (1) estimating oxidative capacity of specific muscle groups during exercise using near infrared spectroscopy and (2) describing body composition to better understand exercise capacity and mitochondrial…
- Trial name
- NCT02895789
- Where
- United States
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- Columbia University
Mitochondrial Diseases, Mitochondrial Respiratory Chain Deficiencies
A Phase Ia/Ib, SAD and MAD Study of of KL1333 in Healthy Subjects and Patients With Primary Mitochondrial Disease
This will be a double blind, randomised, placebo controlled, single and multiple oral dose study conducted in 3 parts: Part A, Part B and Part C.
- Conditions
- Mitochondrial Diseases, Mitochondrial Respiratory Chain Deficiencies, MELAS Syndrome, Mitochondrial Myopathies
- Trial name
- NCT03888716
- Testing
- KL1333
- Where
- 2 sites in United Kingdom
- Volunteers
- 72 people, healthy volunteers welcome
- Sponsor
- Abliva AB
Mitochondrial Disease, Metabolic Myopathy
GDF-15 as a Biomarker for Mitochondrial Disease
Mitochondrial disorders are a group of inherited disorders causing malfunctional mitochondria. Mitochondria are found in every cell of the body, and the disorders therefore give symptoms from every tissue, especially those with…
- Conditions
- Mitochondrial Disease, Metabolic Myopathy, Muscular Dystrophy
- Trial name
- GDF-15 (NCT02745938)
- Where
- Denmark
- Volunteers
- 97 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Mitochondrial Diseases, Mitochondrial Myopathies
Nutritional Assessment in Mitochondrial Cytopathy
The aim of this study is to assess nutritional intake (quantitatively and qualitatively), nutritional state and body composition of patients suffering from mitochondrial cytopathy, compared to healthy controls.
- Conditions
- Mitochondrial Diseases, Mitochondrial Myopathies, Mitochondrial Cytopathies
- Trial name
- NAMITO (NCT02375438)
- Where
- Switzerland
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- Insel Gruppe AG, University Hospital Bern