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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Mitochondrial Myopathy Clear all
Completed No phase listed Observational

Mitochondrial Video Assessment Source Material Study

NCT06180421
View directory record Official record
Conditions
PolG, Primary Mitochondrial Myopathy
Interventions
Not listed
Lead sponsor
The Emmes Company, LLC
Industry
Eligibility
16 Years and older
Enrollment
28 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2024
U.S. locations
1
States / cities
Kingston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Nov 13, 2024 · Synced Jul 23, 2026, 4:19 PM EDT
No Longer Available No phase listed Expanded access

Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism

NCT01461304
View directory record Official record
Conditions
Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency, Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2), Mitochondrial Trifunctional Protein Deficiency, Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency, Glycogen Storage Disorders, Pyruvate Carboxylase Deficiency Disease, ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY of, Barth Syndrome
Interventions
triheptanoin
Drug
Lead sponsor
Jerry Vockley, MD, PhD
Other
Eligibility
1 Month and older
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Dec 9, 2021 · Synced Jul 23, 2026, 4:19 PM EDT
Completed Not applicable Interventional

Mechanisms That Produce the Leg Dysfunction of Claudication & Treatment Strategies

NCT01970332
View directory record Official record
Conditions
Peripheral Arterial Disease
Interventions
Revascularization Surgery, Supervised exercise therapy
Procedure · Other
Lead sponsor
University of Nebraska
Other
Eligibility
Not listed
Enrollment
220 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2016
U.S. locations
1
States / cities
Omaha, Nebraska
Source: ClinicalTrials.gov public record
Updated Sep 6, 2023 · Synced Jul 23, 2026, 4:19 PM EDT
Completed Phase 1Phase 2 Interventional

Promoting Resilience in Stress Management (PRISM) and Clinical-focused Narrative (CFN) Pilot in Adults With Primary Mitochondrial Disease (PMD).

NCT06051448
View directory record Official record
Conditions
Mitochondrial Diseases, Mitochondrial Myopathies, Mitochondrial Encephalomyopathies, MELAS, MERRF
Interventions
Promoting Resilience in Stress Management (PRISM), Clinical-focused narrative (CFN)
Behavioral
Lead sponsor
Children's Hospital of Philadelphia
Other
Eligibility
18 Years and older
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2024
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Nov 28, 2024 · Synced Jul 23, 2026, 4:19 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Natural History Study - Mitochondrial Disease

NCT01532791
View directory record Official record
Conditions
MELAS or m.3243 A>G Mitochondrial DNA Mutation Carrier
Interventions
Not listed
Lead sponsor
Columbia University
Other
Eligibility
4 Years and older
Enrollment
300 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2004 – 2026
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jan 22, 2026 · Synced Jul 23, 2026, 4:19 PM EDT
No Longer Available No phase listed Expanded access

EPI-743 for Mitochondrial Respiratory Chain Diseases

NCT01370447
View directory record Official record
Conditions
Mitochondrial Diseases
Interventions
EPI-743
Drug
Lead sponsor
PTC Therapeutics
Industry
Eligibility
1 Year and older
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
16
States / cities
Los Angeles, California • Orange, California • Palo Alto, California + 12 more
Source: ClinicalTrials.gov public record
Updated Jan 22, 2024 · Synced Jul 23, 2026, 4:19 PM EDT
Active, not recruiting Phase 2 Interventional

An Open-label Extension Safety Study of MELAS Patients Who Completed TIS6463-203 (PRIZM)

NCT06961344
View directory record Official record
Conditions
Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS Syndrome)
Interventions
zagociguat 15mg
Drug
Lead sponsor
Tisento Therapeutics
Industry
Eligibility
Not listed
Enrollment
44 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2028
U.S. locations
9
States / cities
La Jolla, California • Aurora, Colorado • Atlanta, Georgia + 5 more
Source: ClinicalTrials.gov public record
Updated Jul 6, 2026 · Synced Jul 23, 2026, 4:19 PM EDT
Completed No phase listed Observational

An Observational Study of Patients With Primary Mitochondrial Disease (SPIMM-300)

NCT03048617
View directory record Official record
Conditions
Primary Mitochondrial Disease
Interventions
Not listed
Lead sponsor
Stealth BioTherapeutics Inc.
Industry
Eligibility
16 Years to 80 Years
Enrollment
215 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2019
U.S. locations
13
States / cities
La Jolla, California • Palo Alto, California • Aurora, Colorado + 9 more
Source: ClinicalTrials.gov public record
Updated Apr 10, 2019 · Synced Jul 23, 2026, 4:19 PM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Effect of Dietary Nitrate on Immobilization-induced Changes in Skeletal Muscle in Young Healthy Men

NCT07161973
View directory record Official record
Conditions
Mitochondrial Energetics, Dietary Nitrate, Disuse Atrophy (Muscle) of Lower Leg
Interventions
Beetroot Juice - Active, Placebo Beetroot Juice Without Nitrate
Dietary Supplement
Lead sponsor
Indiana University
Other
Eligibility
18 Years to 44 Years · Male only
Enrollment
24 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2026
U.S. locations
1
States / cities
Indianapolis, Indiana
Source: ClinicalTrials.gov public record
Updated Feb 22, 2026 · Synced Jul 23, 2026, 4:19 PM EDT
Completed Phase 2 Interventional

A Phase 2b Study of Zagociguat in Patients With MELAS

NCT06402123
View directory record Official record
Conditions
Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS Syndrome)
Interventions
zagociguat 15mg, zagociguat 30mg, Placebo
Drug
Lead sponsor
Tisento Therapeutics
Industry
Eligibility
18 Years to 75 Years
Enrollment
43 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
10
States / cities
La Jolla, California • Aurora, Colorado • Atlanta, Georgia + 5 more
Source: ClinicalTrials.gov public record
Updated Jul 6, 2026 · Synced Jul 23, 2026, 4:19 PM EDT
Completed Phase 1Phase 2 Interventional Results available

Nicotinamide Riboside on Mitochondrial Function in Li-Fraumeni Syndrome

NCT03789175
View directory record Official record
Conditions
Cancer, Skin Fibroblasts, Muscle Weakness
Interventions
Nicotinamide Riboside (NR)
Dietary Supplement
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
18 Years to 70 Years
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 7, 2020 · Synced Jul 23, 2026, 4:19 PM EDT
Not listed Phase 2 Interventional

The Synergy Trial: Methylphenidate Plus a CFS-Specific Nutrient Formula as a Treatment for Chronic Fatigue Syndrome

NCT01966276
View directory record Official record
Conditions
Chronic Fatigue Syndrome (CFS), Myalgic Encephalomyelitis (ME)
Interventions
Methyl-P plus Nutrient Formula, Methyl-P plus Nutrient matched placebos
Drug
Lead sponsor
K-PAX Pharmaceuticals, Inc.
Industry
Eligibility
18 Years to 59 Years
Enrollment
134 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2014
U.S. locations
4
States / cities
Stanford, California • Fort Lauderdale, Florida • New York, New York + 1 more
Source: ClinicalTrials.gov public record
Updated Sep 24, 2014 · Synced Jul 23, 2026, 4:19 PM EDT
Terminated Phase 3 Interventional Results available

A Trial to Evaluate Safety and Efficacy of Elamipretide Primary Mitochondrial Myopathy Followed by Open-Label Extension

NCT03323749
View directory record Official record
Conditions
Primary Mitochondrial Myopathy
Interventions
elamipretide, placebo comparator, elamipretide open label treatment
Combination Product
Lead sponsor
Stealth BioTherapeutics Inc.
Industry
Eligibility
16 Years to 80 Years
Enrollment
218 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2020
U.S. locations
13
States / cities
La Jolla, California • Palo Alto, California • Aurora, Colorado + 9 more
Source: ClinicalTrials.gov public record
Updated Jan 23, 2022 · Synced Jul 23, 2026, 4:19 PM EDT
Terminated Not applicable Interventional

Vitamin E Treatment for Long-Chain 3-Hydroxyacyl Coenzyme A (CoA) Dehydrogenase (LCHAD) Associated Neuropathy

NCT00840112
View directory record Official record
Conditions
Peripheral Neuropathy, Mitochondrial Trifunctional Protein Deficiency
Interventions
Vitamin E supplement
Dietary Supplement
Lead sponsor
Oregon Health and Science University
Other
Eligibility
7 Years and older
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2015
U.S. locations
1
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Oct 20, 2015 · Synced Jul 23, 2026, 4:19 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Natural History Study of Mitochondrial Myopathy

NCT05250375
View directory record Official record
Conditions
Primary Mitochondrial Disease
Interventions
Not listed
Lead sponsor
Children's Hospital of Philadelphia
Other
Eligibility
0 Years to 100 Years
Enrollment
1,300 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2030
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Sep 9, 2025 · Synced Jul 23, 2026, 4:19 PM EDT
Completed Phase 1Phase 2 Interventional Results available

EPI-743 for Metabolism or Mitochondrial Disorders

NCT01642056
View directory record Official record
Conditions
Mitochondrial Disease, Neurology, Myopathy
Interventions
EPI-743, Placebo
Drug
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
2 Years to 11 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2019
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Apr 13, 2021 · Synced Jul 23, 2026, 4:19 PM EDT
Completed Early Phase 1 Interventional

Ketones & Mitochondrial Heteroplasmy

NCT01252979
View directory record Official record
Conditions
MELAS Syndrome, Mitochondrial Diseases
Interventions
Medium-Chain Triglycerides
Dietary Supplement
Lead sponsor
The University of Texas Health Science Center, Houston
Other
Eligibility
Not listed
Enrollment
13 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2011
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Feb 5, 2012 · Synced Jul 23, 2026, 4:19 PM EDT
Recruiting Phase 1 Interventional

Study of N-acetylcysteine in the Treatment of Patients With the m.3243A>G Mutation and Low Brain Glutathione Levels

NCT05241262
View directory record Official record
Conditions
Mitochondrial Disease
Interventions
N-Acetylcysteine
Drug
Lead sponsor
Michio Hirano, MD
Other
Eligibility
18 Years to 80 Years
Enrollment
18 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2026
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jan 22, 2026 · Synced Jul 23, 2026, 4:19 PM EDT
Completed Phase 2 Interventional Results available

Safety, Tolerability, Efficacy of MTP-131 for Treatment of Mitochondrial Disease in Subjects From the MMPOWER Study

NCT02805790
View directory record Official record
Conditions
Primary Mitochondrial Disease
Interventions
Elamipretide, Placebo
Drug
Lead sponsor
Stealth BioTherapeutics Inc.
Industry
Eligibility
16 Years and older
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2017
U.S. locations
4
States / cities
San Diego, California • Boston, Massachusetts • Akron, Ohio + 1 more
Source: ClinicalTrials.gov public record
Updated Jul 16, 2020 · Synced Jul 23, 2026, 4:19 PM EDT
Completed No phase listed Observational

Genomic Profiling of Mitochondrial Disease - Imaging Analysis for Precise Mitochondrial Medicine

NCT05012358
View directory record Official record
Conditions
Mitochondrial Myopathies, Mitochondrial DNA Mutation, Mitochondrial Diseases, Chronic Progressive External Ophthalmoplegia With Myopathy, Kearns-Sayre Syndrome
Interventions
Not listed
Lead sponsor
Mayo Clinic
Other
Eligibility
15 Years to 80 Years
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2024
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Jun 11, 2024 · Synced Jul 23, 2026, 4:19 PM EDT
Completed No phase listed Observational

Defining 31Phosphorous Magnetic Resonance Spectroscopy Characteristics in Patients With Mitochondrial Myopathy

NCT01301235
View directory record Official record
Conditions
Mitochondrial Disease
Interventions
Not listed
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
18 Years and older
Enrollment
8 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2012
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Apr 29, 2012 · Synced Jul 23, 2026, 4:19 PM EDT
Recruiting Phase 2 Interventional

Efficacy of KL1333 in Adult Patients With Primary Mitochondrial Disease

NCT05650229
View directory record Official record
Conditions
Primary Mitochondrial Disease
Interventions
KL1333, Placebo
Drug
Lead sponsor
Pharming Technologies B.V.
Industry
Eligibility
18 Years and older
Enrollment
180 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
20
States / cities
Orange, California • San Diego, California • San Francisco, California + 15 more
Source: ClinicalTrials.gov public record
Updated Jun 25, 2026 · Synced Jul 23, 2026, 4:19 PM EDT
Completed No phase listed Observational

A Retrospective Study of Subjects With Thymidine Kinase 2 Deficiency

NCT05017818
View directory record Official record
Conditions
Thymidine Kinase 2 Deficiency
Interventions
Observational retrospective data
Other
Lead sponsor
Zogenix MDS, Inc.
Industry
Eligibility
Not listed
Enrollment
61 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2022
U.S. locations
4
States / cities
Los Angeles, California • Indianapolis, Indiana • Akron, Ohio + 1 more
Source: ClinicalTrials.gov public record
Updated Aug 31, 2023 · Synced Jul 23, 2026, 4:19 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Inherited Retinal Degenerative Disease Registry

NCT02435940
View directory record Official record
Conditions
Eye Diseases Hereditary, Retinal Disease, Achromatopsia, Bardet-Biedl Syndrome, Bassen-Kornzweig Syndrome, Batten Disease, Best Disease, Choroidal Dystrophy, Choroideremia, Cone Dystrophy, Cone-Rod Dystrophy, Congenital Stationary Night Blindness, Enhanced S-Cone Syndrome, Fundus Albipunctatus, Goldmann-Favre Syndrome, Gyrate Atrophy, Juvenile Macular Degeneration, Kearns-Sayre Syndrome, Leber Congenital Amaurosis, Refsum Syndrome, Retinitis Pigmentosa, Retinitis Punctata Albescens, Retinoschisis, Rod-Cone Dystrophy, Rod Dystrophy, Rod Monochromacy, Stargardt Disease, Usher Syndrome
Interventions
Not listed
Lead sponsor
Foundation Fighting Blindness
Other
Eligibility
Not listed
Enrollment
20,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2037
U.S. locations
1
States / cities
Columbia, Maryland
Source: ClinicalTrials.gov public record
Updated May 18, 2026 · Synced Jul 23, 2026, 4:19 PM EDT