Mitochondrial disease trials in United States

In United States 28 Also abroad 56

28 trials · From ClinicalTrials.gov, checked 15 November 2026. Ask the study team whether a trial fits you.

Phase 4Terminated
Clinical Trial in Patients With Barth Syndrome- 4TAZPower
Where
Needham
Age
5 years to 55 years
People
48 worldwide
Run by
Stealth BioTherapeutics Inc.
See details and how to joinNCT07531251
No phaseTaking people
The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism
Where
Bethesda
Age
4 weeks to 115 years
People
500
Run by
National Human Genome Research Institute (NHGRI)
See details and how to joinNCT01780168
No phaseTaking people
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Where
Sioux Falls
People
20,000
Run by
Sanford Health
See details and how to joinNCT01793168
Phase 3Taking people
KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Diseases
Where
Boston, Cleveland, Houston
Age
18 years to 64 years
People
220 worldwide
Run by
Khondrion BV
See details and how to joinNCT06451757 · EU 2025-522361-30-00
Phase 1Taking people
Validation of Nanosensor Oxygen Measurement
Where
Philadelphia
Age
18 years to 65 years
People
70
Run by
Children's Hospital of Philadelphia
See details and how to joinNCT06819683
No phaseTaking people
Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies
Where
Pittsburgh
People
150
Run by
University of Pittsburgh
See details and how to joinNCT03056794
Phase 1/2Not yet taking people in United States
A Basket Clinical Study to Assess Glycerol Tributyrate in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-like Episodes (MELAS) or Leber's Hereditary Optic Neuropathy-Plus (LHON-Plus)
Where
Washington D.C.
Age
18 years to 65 years
People
24
Run by
George Washington University
See details and how to joinNCT06792500
No phaseNot yet taking people in United States
The Precision Mito- Mito Map COMPASS Study
Where
Fort Myers
Age
18 years and over
People
400
Run by
AI Agent Vault, Inc. d/b/a Precision Mito
See details and how to joinNCT07856121
No phaseTaking people
Natural History Study of Mitochondrial Myopathy
Where
Philadelphia
Age
0 years to 100 years
People
1,300
Run by
Children's Hospital of Philadelphia
See details and how to joinNCT05250375
Phase 2Taking people
Open Label Extension to Assess Long Term Safety and Efficacy of KL1333 in Patients With Primary Mitochondrial Disease
Where
Akron
Age
18 years and over
People
140 worldwide
Run by
Pharming Technologies B.V.
See details and how to joinNCT07514338 · EU 2025-524367-20-00
No phaseNot yet taking people in United States
Prospective Natural History Study of POLG Disease
Where
Akron, Aurora, Dallas, Houston, New York, Philadelphia, San Diego
People
300 worldwide
Run by
The POLG Foundation
See details and how to joinNCT07775872
No phaseTaking people
Acute Infection in Mitochondrial Disease: Metabolism, Infection and Immunity
Where
Bethesda
Age
2 months to 115 years
People
400
Run by
National Human Genome Research Institute (NHGRI)
See details and how to joinNCT04419870
No phaseTaking people
New Non-invasive Modalities for Assessing Retinal Structure and Function
Where
Iowa City
Age
18 years to 99 years
People
500
Run by
Randy Kardon
See details and how to joinNCT03475173
No phaseTaking people
Stem Cell Ophthalmology Treatment Study II
Where
Coral Springs, Westport
Age
18 years and over
People
500 worldwide
Run by
MD Stem Cells
See details and how to joinNCT03011541
Phase 2Taking people
Efficacy of KL1333 in Adult Patients With Primary Mitochondrial Disease
Where
Akron, Atlanta, Aurora, Baltimore, Flower Mound, Houston, Indianapolis, Marlboro, Miami, New Haven, New York, Orange, Philadelphia, Pittsburgh, Rochester, San Diego, San Francisco, St Louis
Age
18 years and over
People
180 worldwide
Run by
Pharming Technologies B.V.
See details and how to joinNCT05650229 · EU 2023-508624-35-00
No phaseTaking people
Inherited Retinal Degenerative Disease Registry
Where
Columbia
People
20,000
Run by
Foundation Fighting Blindness
See details and how to joinNCT02435940
Phase 3Taking people
Coenzyme Q10 for Gulf War Illness: A Replication Study
Where
La Jolla
Age
50 years and over
People
192
Run by
University of California, San Diego
See details and how to joinNCT06515184
No phaseTaking people
Transgenerational Metabolic-Immune Biomarkers of Neurological and Neurodevelopmental Disorders
Where
Brooklyn, Phoenix
Age
Up to 18 years
People
500
Run by
Southwest Autism Research & Resource Center
See details and how to joinNCT04322734
Phase 2Enrolling by invitation
Sirolimus for Leigh Syndrome
Where
Philadelphia
Age
6 months to 55 years
People
15
Run by
Matthew Demczko
See details and how to joinNCT06843811
Phase 1Taking people
Validation of Oxygen Nanosensor in Mitochondrial Myopathy
Where
Philadelphia
Age
18 years to 65 years
People
24
Run by
Children's Hospital of Philadelphia
See details and how to joinNCT04086329
No phaseTaking people
Neurometabolic Profile of Individuals With Primary Mitochondrial Disease
Where
Philadelphia
Age
8 years to 75 years
People
30
Run by
Children's Hospital of Philadelphia
See details and how to joinNCT06890520
No phaseTaking people
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
Where
Akron, Aurora, Boston, Cleveland, Clevland, Gainsville, Houston, New York, Philadelphia, Pittsburgh, Rochester, San Diego, Seattle, Stanford, Washington D.C.
People
1,000 worldwide
Run by
Columbia University
See details and how to joinNCT01694940
No phaseTaking people
Natural History Study - Mitochondrial Disease
Where
New York
Age
4 years and over
People
300
Run by
Columbia University
See details and how to joinNCT01532791
Phase 1Taking people
Study of N-acetylcysteine in the Treatment of Patients With the m.3243A>G Mutation and Low Brain Glutathione Levels
Where
New York
Age
18 years to 80 years
People
18
Run by
Michio Hirano, MD
See details and how to joinNCT05241262
No phaseEnrolling by invitation
CrCest Study in Primary Mitochondrial Disease
Where
Philadelphia
Age
7 years to 75 years
People
230
Run by
Children's Hospital of Philadelphia
See details and how to joinNCT04734626