Clinical trials: Mitochondrial Myopathy
MELAS Syndrome, Mitochondrial Diseases
Ketones & Mitochondrial Heteroplasmy
The current study is a prospective evaluation of the ability of ketosis to shift mitochondrial DNA (mtDNA) heteroplasmy in subjects harboring a known mutation in their mtDNA at position 3243 (A>G).
- Trial name
- NCT01252979
- Testing
- Medium-Chain Triglycerides
- Where
- United States
- Volunteers
- 13 people
- Sponsor
- The University of Texas Health Science Center, Houston
COVID, Corona Virus Infection
Intensive Care Associated Complications and Outcome of Acute Respiratory Distress Syndrome Due to COVID-19
COVID-19 patients with a severely symptomatic progression with development of an Acute respiratory distress syndrome (ARDS) due to SARS-CoV-2 need prolonged intensive care treatment involving pharmacological immobilization…
- Conditions
- COVID, Corona Virus Infection, Sars-CoV2
- Trial name
- NCT04397172
- Testing
- Study Arm
- Where
- Switzerland
- Volunteers
- 48 people
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency, Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2)
Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism
This is a compassionate use study to allow patients already taking triheptanoin (C7) through previous studies to continue to receive the supplement.
- Conditions
- Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency, Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2), Mitochondrial Trifunctional Protein Deficiency, Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency
- Trial name
- NCT01461304
- Testing
- triheptanoin
- Where
- United States
- Sponsor
- Jerry Vockley, MD, PhD
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
Primary Mitochondrial Myopathies
Natural History in Primary Mitochondrial Myopathies
This is a longitudinal study in a cohort of patients with a genetic diagnosis of Primary Mitochondrial Myopathy to describe the natural history of the disease and identify clinical, biochemical, molecular, and radiological…
- Trial name
- NHPMM (NCT05653544)
- Where
- Spain
- Volunteers
- 150 people
- Sponsor
- Cristina Domínguez González
PolG, Primary Mitochondrial Myopathy
Prospective Natural History Study of POLG Disease
The PIONEER study is a prospective, natural history study dedicated to characterizing the clinical progression of POLG-related disorders.
- Trial name
- PIONEER (NCT07775872)
- Where
- 21 sites in United States, Australia and 7 more
- Volunteers
- 300 people
- Sponsor
- The POLG Foundation
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
Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis
Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
This single-arm pilot study evaluates the effects of whole-body electrical muscle stimulation (WB-EMS) exercise on neuromuscular and physical function in adults with neuromuscular disease (NMD).
- Conditions
- Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis, Myasthenia Gravis, Lambert-eaton Myasthenic Syndrome
- Trial name
- NCT07478172
- Testing
- Whole-body Electrical Muscle Stimulation Exercise
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- University of Missouri-Columbia
Mitochondrial Myopathies, Fatty Acid Oxidation Defects
Resveratrol Supplementation in Patients With Mitochondrial Myopathies and Skeletal Muscle Fatty Acid Oxidation Disorders
The purpose of this study is to investigate the potential beneficial effects of a daily supplement of Resveratrol (1000mg/day) on physical ability and on muscle metabolism in patients with verified mitochondrial myopathy and…
- Trial name
- NCT03728777
- Testing
- Resveratrol
- Where
- Denmark
- Volunteers
- 20 people
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS Syndrome)
A Phase 2b Study of Zagociguat in Patients With MELAS
PRIZM is a Phase 2b randomized, double-blind, placebo-controlled, 3-treatment, 2-period, crossover study evaluating the efficacy and safety of oral zagociguat 15 and 30 mg vs.
- Trial name
- PRIZM (NCT06402123)
- Testing
- zagociguat 15mg, zagociguat 30mg
- Where
- 20 sites in United States, Australia and 4 more
- Volunteers
- 43 people
- Sponsor
- Tisento Therapeutics
Pain, Neck, Pain, Back
Evaluation of Mitochondrial Function in Myofascial Trigger Points Cohort Pilot Study Using High-resolution Respirometry
This pilot study established a minimally invasive biopsy technique to obtain high-quality MTrP tissue samples to evaluate mitochondrial function via high-resolution respirometry.
- Conditions
- Pain, Neck, Pain, Back, Myofascial Trigger Point Pain, Myofascial Pain
- Trial name
- MitoTrigger (NCT03704311)
- Testing
- Muscle biopsy
- Volunteers
- 20 people
- Sponsor
- Medical University Innsbruck
Mitochondrial Myopathies
MABs Therapy m.3243A>G Mutation Carriers
Rationale: Mitochondrial disorders are progressive, often fatal multisystem disorders, in 20-25% of the cases caused by heteroplasmic mutations in the mitochondrial DNA (mtDNA).
- Trial name
- MABS01 (NCT05063721)
- Testing
- autologous mesoangioblasts
- Where
- Netherlands
- Volunteers
- 6 people
- Sponsor
- Maastricht University
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
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
Childhood Cancer, Muscle Weakness
Imaging Skeletal Muscle Mitochondrial OXPHOS Activity In Acute Lymphoblastic Leukemia Survivors
The participants are being asked to take part in this trial, because the participant is a survivor of childhood cancer or agreed to be part of a volunteer group to understand the relation between cancer and cancer treatment and…
- Trial name
- NCT06819475
- Testing
- Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy, Physical function assessment
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- St. Jude Children's Research Hospital
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