Clinical trials: Mitochondrial Myopathies
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
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
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
Cystinosis, Native Kidney
Cystinosis and Mitochondrial Metabolism
Cystinosis is a monogenic autosomal recessive lysosomal storage disease with complete penetrance, caused by a biallelic mutation in the CTNS gene (17p13.2) encoding cystinosin, a ubiquitous membrane protein whose role is to clear…
- Trial name
- CYSTI-MITO (NCT07319091)
- Testing
- Mitochondrial metabolism
- Where
- 9 sites in France
- Volunteers
- 25 people
- Sponsor
- Hospices Civils de Lyon
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
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
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
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
Polymyositis, Dermatomyositis
Phase 2 Trial to Evaluate the Efficacy, Safety of Allogeneic Mitochondria (PN-101) in Patients With Refractory Polymyositis or Dermatomyositis
The efficacy of PN-101 in subjects with polymyositis or dermatomyositis will be evaluated at Week 12 using IMACS-TIS in comparison with the placebo control group.
- Trial name
- NCT07122648
- Testing
- PN-101
- Where
- 5 sites in South Korea
- Volunteers
- 36 people
- Sponsor
- Paean Biotechnology Inc.
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
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 Diseases, Mitochondrial Encephalomyopathy
Deoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome
Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are a genetically and clinically heterogeneous group of autosomal recessive disorders that are characterized by a severe reduction in mtDNA content leading to impaired energy…
- Conditions
- Mitochondrial Diseases, Mitochondrial Encephalomyopathy, Mitochondrial Encephalopathy, Mitochondrial DNA Depletion
- Trial name
- dC-dT-MDS (NCT04802707)
- Testing
- deoxycytidine and deoxythymidine
- Where
- Canada
- Volunteers
- 200 people
- Sponsor
- Kenneth Myers, MD
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
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
Eye Diseases Hereditary, Retinal Disease
Inherited Retinal Degenerative Disease Registry
The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation.
- Conditions
- Eye Diseases Hereditary, Retinal Disease, Achromatopsia, Bardet-Biedl Syndrome
- Trial name
- MRTR (NCT02435940)
- Where
- United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Foundation Fighting Blindness
Primary Mitochondrial Myopathy
A Study of the Safety of REN001 in Patients With Primary Mitochondrial Myopathy
The purpose of this study is to assess REN001 safety in subjects with primary mitochondrial myopathy
- Trial name
- NCT03862846
- Testing
- REN001
- Where
- 2 sites in United Kingdom
- Volunteers
- 23 people
- Sponsor
- Reneo Pharma Ltd
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.
Neurodevelopmental Disorders, Autism Spectrum Disorder
Patterns of Neurodevelopmental Disorders
The purpose of this study is to systematically evaluate the results of medical investigations to identify symptom and biological patterns and common etiologies of neurodevelopmental disorders.
- Conditions
- Neurodevelopmental Disorders, Autism Spectrum Disorder, Pediatric Autoimmune Neuropsychiatric Disorder Associated With Streptococcal Infection, Pediatric Acute-Onset Neuropsychiatric Syndrome
- Trial name
- NCT06213090
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Richard Frye
Polymyositis, Dermatomyositis
Allogeneic Mitochondria (PN-101) Transplantation for Refractory Polymyositis or Dermatomyositis
To determine the maximum tolerated dose (MTD) based on the safety and tolerability after single-dose administration of PN-101 in patients with refractory polymyositis or dermatomyositis.
- Trial name
- NCT04976140
- Testing
- PN-101
- Where
- 3 sites in South Korea
- Volunteers
- 9 people
- Sponsor
- Paean Biotechnology Inc.