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Showing 1–24 of 321 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Mitochondrial Metabolism Disorders Clear all
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 21, 2026, 9:58 AM EDT
Enrolling by invitation No phase listed Observational

CrCest Study in Primary Mitochondrial Disease

NCT04734626
View directory record Official record
Conditions
Mitochondrial Diseases
Interventions
Creatine Chemical Exchange Saturation Transfer (CrCEST) Imaging Sequence
Diagnostic Test
Lead sponsor
Children's Hospital of Philadelphia
Other
Eligibility
7 Years to 75 Years
Enrollment
230 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2028
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jan 13, 2026 · Synced Jul 21, 2026, 9:58 AM EDT
Recruiting Phase 2 Interventional

An Open-Label Study of CTI-1601 in Subjects With Friedreich's Ataxia

NCT06447025
View directory record Official record
Conditions
Friedreich Ataxia
Interventions
CTI-1601
Drug
Lead sponsor
Larimar Therapeutics, Inc.
Industry
Eligibility
2 Years to 60 Years
Enrollment
85 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2027
U.S. locations
8
States / cities
Los Angeles, California • Gainesville, Florida • Tampa, Florida + 5 more
Source: ClinicalTrials.gov public record
Updated May 12, 2026 · Synced Jul 21, 2026, 9:58 AM EDT
Completed Not applicable Interventional

An Open Label Evaluation of the Safety and Pharmacokinetics of Ganciclovir in Children

NCT00002015
View directory record Official record
Conditions
Cytomegalovirus Retinitis, HIV Infections
Interventions
Ganciclovir
Drug
Lead sponsor
Roche Global Development
Other
Eligibility
3 Months to 12 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
8
States / cities
Birmingham, Alabama • Los Angeles, California • Chicago, Illinois + 3 more
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Jul 21, 2026, 9:58 AM EDT
Not listed Phase 2 Interventional

The Effects of Exercise Versus Inactivity on People With Mitochondrial Muscle Disease

NCT00457314
View directory record Official record
Conditions
Mitochondrial Myopathy
Interventions
Exercise
Behavioral
Lead sponsor
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
NIH
Eligibility
18 Years to 65 Years
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2012
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated May 18, 2009 · Synced Jul 21, 2026, 9:58 AM 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 21, 2026, 9:58 AM EDT
Enrolling by invitation Phase 2 Interventional

Sirolimus for Leigh Syndrome

NCT06843811
View directory record Official record
Conditions
Leigh Syndrome
Interventions
Sirolimus
Drug
Lead sponsor
Matthew Demczko
Other
Eligibility
6 Months to 55 Years
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Mar 30, 2026 · Synced Jul 21, 2026, 9:58 AM EDT
Completed Phase 2 Interventional Results available

Heart Rate Variability in Response to Metformin Challenge

NCT02500628
View directory record Official record
Conditions
Fibromyalgia, Mitochondrial Diseases, Movement Disorders, Diabetes Mellitus, Type 2
Interventions
Metformin
Drug
Lead sponsor
Woodinville Psychiatric Associates
Other
Eligibility
18 Years and older
Enrollment
61 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2016
U.S. locations
1
States / cities
Woodinville, Washington
Source: ClinicalTrials.gov public record
Updated Jan 2, 2018 · Synced Jul 21, 2026, 9:58 AM EDT
Enrolling by invitation Not applicable Interventional Accepts healthy volunteers

Palliative Care Needs of Children With Rare Diseases and Their Families

NCT06938542
View directory record Official record
Conditions
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome, Early Infantile Epileptic Encephalopathy, FOXG1 Syndrome, KBG Syndrome, Noonan Syndrome, Severe Hemophilia A, Short Bowel Syndrome, Beta-Propeller Protein-Associated Neurodegeneration, Brain Injury of Prematurity With Periventricular Leukomalacia, Chromosome 17p13.3 Microdeletion Syndrome, Chromosome 1q43-1q44 Deletion, Cockayne Syndrome, Congenital Diaphragmatic Hernia, End-Stage Renal Disease With Cloacal Anomaly, Mitochondrial Depletion Disorder, Severe Factor VII Deficiency
Interventions
Family Centered pediatric palliative care for family caregivers of children with rare diseases.
Behavioral
Lead sponsor
Children's National Research Institute
Other
Eligibility
12 Months to 99 Years
Enrollment
480 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2029
U.S. locations
1
States / cities
Washington D.C., District of Columbia
Source: ClinicalTrials.gov public record
Updated Jan 27, 2026 · Synced Jul 21, 2026, 9:58 AM EDT
Recruiting Phase 3 Interventional

Coenzyme Q10 for Gulf War Illness: A Replication Study

NCT06515184
View directory record Official record
Conditions
Gulf War Syndrome, Persian Gulf Syndrome, Mitochondrial Disorder, Respiratory Chain
Interventions
PharmaNord Bio-Quinone Active CoQ10 Gold 100mg, PharmaNord Placebo
Drug
Lead sponsor
University of California, San Diego
Other
Eligibility
50 Years and older
Enrollment
192 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2027
U.S. locations
1
States / cities
La Jolla, California
Source: ClinicalTrials.gov public record
Updated Apr 30, 2026 · Synced Jul 21, 2026, 9:58 AM EDT
Completed Phase 4 Interventional Results available

Effect of Metformin on Vascular and Mitochondrial Function in Type 1 Diabetes

NCT01813929
View directory record Official record
Conditions
Type 1 Diabetes
Interventions
Metformin, Placebo
Drug
Lead sponsor
University of Colorado, Denver
Other
Eligibility
25 Years to 59 Years
Enrollment
23 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2017
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated Jan 20, 2022 · Synced Jul 21, 2026, 9:58 AM EDT
Completed Not applicable Interventional

A Study of Ganciclovir in the Treatment of Cytomegalovirus of the Large Intestine in Patients With AIDS

NCT00002273
View directory record Official record
Conditions
Colitis, HIV Infections
Interventions
Ganciclovir
Drug
Lead sponsor
Hoffmann-La Roche
Industry
Eligibility
21 Years and older · Male only
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
1
States / cities
Palo Alto, California
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Jul 21, 2026, 9:58 AM EDT
Completed No phase listed Observational

Etiology and Early Diagnosis of Neurodevelopmental Disorders

NCT02003170
View directory record Official record
Conditions
Neurodevelopmental Disorders
Interventions
Not listed
Lead sponsor
University of Arkansas
Other
Eligibility
0 Months to 99 Years
Enrollment
576 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2024
U.S. locations
1
States / cities
Little Rock, Arkansas
Source: ClinicalTrials.gov public record
Updated Jul 7, 2024 · Synced Jul 21, 2026, 9:58 AM EDT
Terminated No phase listed Observational

Natural History of Autosomal Dominant Optic Atrophy (ADOA), Caused by OPA1 Mutation

NCT06140329
View directory record Official record
Conditions
Autosomal Dominant Optic Atrophy, Optic Atrophy, Autosomal Dominant, Optic Atrophies, Hereditary, Kjer Optic Atrophy
Interventions
Not listed
Lead sponsor
PYC Therapeutics
Industry
Eligibility
8 Years and older
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2025
U.S. locations
2
States / cities
Miami, Florida • Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Mar 13, 2025 · Synced Jul 21, 2026, 9:58 AM EDT
Completed Phase 2 Interventional

Safety and Efficacy of EPI-743 in Patients With Friedreich's Ataxia

NCT01728064
View directory record Official record
Conditions
Friedreich's Ataxia
Interventions
Placebo, EPI-743 400 mg, EPI-743 200 mg
Drug
Lead sponsor
PTC Therapeutics
Industry
Eligibility
18 Years to 45 Years
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2016
U.S. locations
3
States / cities
Los Angeles, California • Tampa, Florida • Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Aug 30, 2020 · Synced Jul 21, 2026, 9:58 AM EDT
Active, not recruiting Phase 2 Interventional

A Study to Evaluate Vitamin B3 Derivative to Treat Mitochondrial Myopathy

NCT05590468
View directory record Official record
Conditions
Mitochondrial Myopathy
Interventions
Nicotinamide Riboside, Placebo
Dietary Supplement · Drug
Lead sponsor
Ralitza Gavrilova
Other
Eligibility
18 Years and older
Enrollment
34 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2026
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Jan 25, 2026 · Synced Jul 21, 2026, 9:58 AM EDT
Completed Phase 1Phase 2 Interventional Results available

FRDA Investigator Initiated Study (IIS) With Elamipretide

NCT05168774
View directory record Official record
Conditions
Friedreich Ataxia
Interventions
Elamipretide
Drug
Lead sponsor
Children's Hospital of Philadelphia
Other
Eligibility
16 Years and older
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2024
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Dec 11, 2025 · Synced Jul 21, 2026, 9:58 AM EDT
Completed Phase 2 Interventional Results available

Effects of GLP1-RA on Ectopic Fat Deposition in Chronic Kidney Disease

NCT05254418
View directory record Official record
Conditions
Chronic Kidney Diseases
Interventions
dulaglutide injection
Drug
Lead sponsor
Vanderbilt University Medical Center
Other
Eligibility
18 Years to 75 Years
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2024
U.S. locations
1
States / cities
Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated Apr 19, 2025 · Synced Jul 21, 2026, 9:58 AM EDT
Available No phase listed Expanded access

Expanded Access Program for R007 (Probucol) Tablets in Adults With Mitochondrial Disease and Chronic Kidney Disease

NCT06931834
View directory record Official record
Conditions
Mitochondrial Disease, Chronic Kidney Disease
Interventions
Probucol
Drug
Lead sponsor
RiboNova Inc.
Industry
Eligibility
18 Years to 75 Years
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Apr 16, 2025 · Synced Jul 21, 2026, 9:58 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Early and Longitudinal Assessment of Neurodegeneration in the Brain and Spinal Cord in Friedreich's Ataxia

NCT01776164
View directory record Official record
Conditions
Friedreich Ataxia
Interventions
Not listed
Lead sponsor
University of Minnesota
Other
Eligibility
10 Years and older
Enrollment
85 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2022
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Mar 8, 2023 · Synced Jul 21, 2026, 9:58 AM EDT
Completed Phase 3 Interventional Results available

Phase III Trial of Coenzyme Q10 in Mitochondrial Disease

NCT00432744
View directory record Official record
Conditions
Mitochondrial Diseases
Interventions
CoenzymeQ10, Placebo
Drug
Lead sponsor
University of Florida
Other
Eligibility
12 Months to 17 Years
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2013
U.S. locations
2
States / cities
Cincinnati, Ohio • Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Sep 10, 2017 · Synced Jul 21, 2026, 9:58 AM EDT
Completed Phase 2 Interventional

Effects of Uridine Supplementation on Metabolic Side Effects of Stavudine and Zidovudine

NCT00471614
View directory record Official record
Conditions
HIV Infections, Insulin Resistance, Hyperlactatemia
Interventions
NucleomaxX (contains uridine)
Drug
Lead sponsor
National Center for Complementary and Integrative Health (NCCIH)
NIH
Eligibility
18 Years to 65 Years
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2012
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated May 15, 2012 · Synced Jul 21, 2026, 9:58 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Prognostic Value of Hyperpolarized 13C MRI for Clinical Myocardial Viability

NCT06047028
View directory record Official record
Conditions
Coronary Artery Disease, Ischemic Heart Disease (IHD), Myocardial Viability
Interventions
Not listed
Lead sponsor
University of Texas Southwestern Medical Center
Other
Eligibility
20 Years to 80 Years
Enrollment
30 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2026
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Feb 26, 2026 · Synced Jul 21, 2026, 9:58 AM EDT
Recruiting Phase 1 Interventional

Phase IA and IB Study of AAVrh.10hFXN Gene Therapy for the Cardiomyopathy of Friedreich's Ataxia

NCT05302271
View directory record Official record
Conditions
Friedreich Ataxia, Cardiomyopathies, Cardiac Hypertrophy, Myocardial Fibrosis
Interventions
AAVrh.10hFXN, serotype rh.10 adeno-associated virus (AAV) gene transfer vector expressing the cDNA coding for human FXN, Prednisone
Biological · Drug
Lead sponsor
Weill Medical College of Cornell University
Other
Eligibility
12 Years to 50 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2029
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Mar 30, 2026 · Synced Jul 21, 2026, 9:58 AM EDT