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ClinicalTrials.gov public records Last synced Oct 20, 2026, 4:08 PM EDT

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Showing 49–72 of 210 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Mitochondrial Genetic Disorders Clear all
Completed Phase 1 Interventional

A Phase I Pharmacokinetic and Tolerance Study of 28-Day Regimens of Oral Ganciclovir

NCT00000668
View directory record Official record
Conditions
Cytomegalovirus Retinitis, HIV Infections
Interventions
Ganciclovir
Drug
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
13 Years to 60 Years
Enrollment
48 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Ends 1995
U.S. locations
5
States / cities
San Diego, California • San Francisco, California • New York, New York
Source: ClinicalTrials.gov public record
Updated Nov 3, 2021 · Synced Oct 20, 2026, 4:08 PM EDT
Completed Early Phase 1 Interventional

Rosuvastatin (Crestor) in Friedreich Ataxia

NCT02705547
View directory record Official record
Conditions
Friedreich Ataxia
Interventions
Rosuvastatin
Drug
Lead sponsor
Children's Hospital of Philadelphia
Other
Eligibility
18 Years to 65 Years
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2017
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Mar 25, 2021 · Synced Oct 20, 2026, 4:08 PM EDT
Completed Phase 3 Interventional

A Treatment Protocol for the Use of Intravenous Ganciclovir in AIDS Patients With Immediately Sight-Threatening CMV Retinitis

NCT00000698
View directory record Official record
Conditions
Cytomegalovirus Retinitis, HIV Infections
Interventions
Ganciclovir
Drug
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
3 Months and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
Ends 2007
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 30, 2008 · Synced Oct 20, 2026, 4:08 PM EDT
Not listed Phase 2 Interventional

Treatment of Mitochondrial Dysfunction in Rett Syndrome With Triheptanoin

NCT02696044
View directory record Official record
Conditions
Rett Syndrome
Interventions
triheptanoin
Drug
Lead sponsor
Center for Rare Neurological Diseases, Norcross, GA
Other
Eligibility
2 Years and older · Female only
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2022
U.S. locations
1
States / cities
Norcross, Georgia
Source: ClinicalTrials.gov public record
Updated Jul 17, 2020 · Synced Oct 20, 2026, 4:08 PM EDT
Completed No phase listed Observational

Preliminary Study of the Scale To Assess Ataxia and Neurologic Dysfunction (STAND)

NCT02179333
View directory record Official record
Conditions
Spinocerebellar Ataxia - All Sub-types, Friedreich's Ataxia
Interventions
Ataxia rating scale
Other
Lead sponsor
University of South Florida
Other
Eligibility
18 Years to 80 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2016
U.S. locations
1
States / cities
Tampa, Florida
Source: ClinicalTrials.gov public record
Updated Nov 16, 2021 · Synced Oct 20, 2026, 4:08 PM EDT
Enrolling by invitation No phase listed Observational

GABA and GSH in FRDA

NCT07635030
View directory record Official record
Conditions
Friedreich's Ataxia, FRDA
Interventions
MRI/ MRS (Magnetic Resonance Imaging /Magnetic Resonance Spectroscopy)
Other
Lead sponsor
Children's Hospital of Philadelphia
Other
Eligibility
8 Years to 16 Years
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2030
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jun 9, 2026 · Synced Oct 20, 2026, 4:08 PM EDT
Completed Not applicable Interventional

Coronary Artery Disease in Patients With Friedreich's Ataxia

NCT04649866
View directory record Official record
Conditions
Friedreich Ataxia
Interventions
plethysmography
Diagnostic Test
Lead sponsor
University of Pittsburgh
Other
Eligibility
18 Years to 79 Years
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Sep 8, 2023 · Synced Oct 20, 2026, 4:08 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Cell Studies of Parkinson's Disease

NCT00076505
View directory record Official record
Conditions
Parkinson Disease
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years and older
Enrollment
150 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2004 – 2006
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 2, 2017 · Synced Oct 20, 2026, 4:08 PM EDT
Completed Phase 2 Interventional Results available

Interferon Gamma-1b in Friedreich Ataxia (FRDA)

NCT01965327
View directory record Official record
Conditions
Friedreich Ataxia
Interventions
Interferon Gamma-1b
Drug
Lead sponsor
Children's Hospital of Philadelphia
Other
Eligibility
5 Years to 17 Years
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2014
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Apr 13, 2021 · Synced Oct 20, 2026, 4:08 PM EDT
Completed Phase 2 Interventional

Safety and Efficacy Study of A0001 in Subjects With Friedreich's Ataxia

NCT01035671
View directory record Official record
Conditions
Friedreich's Ataxia
Interventions
alpha-tocopherolquinone (A0001), placebo
Drug
Lead sponsor
Penwest Pharmaceuticals Co.
Industry
Eligibility
18 Years to 60 Years
Enrollment
42 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2011
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Apr 22, 2011 · Synced Oct 20, 2026, 4:08 PM EDT
Terminated Phase 1 Interventional

A Study to Assess Nomlabofusp in Adolescents and Children With Friedreich's Ataxia

NCT06681766
View directory record Official record
Conditions
Friedreich Ataxia
Interventions
Nomlabofusp, Placebo
Drug
Lead sponsor
Larimar Therapeutics, Inc.
Industry
Eligibility
2 Years to 17 Years
Enrollment
18 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2025
U.S. locations
1
States / cities
Chevy Chase, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 10, 2026 · Synced Oct 20, 2026, 4:08 PM EDT
Recruiting Phase 3 Interventional

A Study to Evaluate the Efficacy and Safety of Subcutaneous Nomlabofusp in Subjects With Friedreich's Ataxia

NCT07778836
View directory record Official record
Conditions
Friedreich Ataxia, Friedreich's Ataxia
Interventions
Nomlabofusp, Placebo
Drug
Lead sponsor
Larimar Therapeutics, Inc.
Industry
Eligibility
12 Years to 40 Years
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2029
U.S. locations
4
States / cities
Tampa, Florida • Chicago, Illinois • Eatontown, New Jersey + 1 more
Source: ClinicalTrials.gov public record
Updated Oct 9, 2026 · Synced Oct 20, 2026, 4:08 PM EDT
Terminated Phase 3 Interventional

Creatine Safety, Tolerability, & Efficacy in Huntington's Disease (CREST-E)

NCT00712426
View directory record Official record
Conditions
Huntington's Disease
Interventions
Creatine Monohydrate, Placebo
Drug
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
18 Years and older
Enrollment
553 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2015
U.S. locations
38
States / cities
Birmingham, Alabama • Irvine, California • Sacramento, California + 35 more
Source: ClinicalTrials.gov public record
Updated Mar 11, 2016 · Synced Oct 20, 2026, 4:08 PM EDT
Completed Phase 3 Interventional

Phase III Ganciclovir +/- rGM-CSF for AIDS-Related CMV Retinitis

NCT00002070
View directory record Official record
Conditions
Cytomegalovirus Retinitis, HIV Infections
Interventions
Sargramostim, Ganciclovir
Drug
Lead sponsor
Schering-Plough
Industry
Eligibility
18 Years and older
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
14
States / cities
Los Angeles, California • San Francisco, California • Sherman Oaks, California + 7 more
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 20, 2026, 4:08 PM EDT
Completed Phase 4 Interventional Results available

CMV Antiviral Prevention Strategies in D+R-Liver Transplants ("CAPSIL")

NCT01552369
View directory record Official record
Conditions
Cytomegalovirus Infection
Interventions
Valganciclovir
Drug
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
18 Years to 99 Years
Enrollment
205 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2018
U.S. locations
6
States / cities
Los Angeles, California • Atlanta, Georgia • Rochester, Minnesota + 3 more
Source: ClinicalTrials.gov public record
Updated Aug 26, 2021 · Synced Oct 20, 2026, 4:08 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Oxygen Uptake Kinetics During Submaximal Exercise in Adults With Down Syndrome

NCT05995223
View directory record Official record
Conditions
Down Syndrome
Interventions
Submaximal exercise protocol
Other
Lead sponsor
University of Nevada, Las Vegas
Other
Eligibility
18 Years to 35 Years
Enrollment
28 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2024
U.S. locations
1
States / cities
Las Vegas, Nevada
Source: ClinicalTrials.gov public record
Updated Jul 1, 2024 · Synced Oct 20, 2026, 4:08 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism

NCT01780168
View directory record Official record
Conditions
Oxidative Phosphorylation Deficiencies, Electron Transport Chain Disorders, Mitochondrial, Mitochondrial Disorders, Leigh Disease
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
4 Weeks to 115 Years
Enrollment
500 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 2012
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 16, 2026 · Synced Oct 20, 2026, 4:08 PM EDT
Completed Phase 1 Interventional

Single Ascending Dose Study of CTI-1601 Versus Placebo in Subjects With Friedreich's Ataxia

NCT04176991
View directory record Official record
Conditions
Friedreich Ataxia
Interventions
CTI-1601, Placebo
Biological
Lead sponsor
Larimar Therapeutics, Inc.
Industry
Eligibility
18 Years and older
Enrollment
28 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2020
U.S. locations
1
States / cities
Eatontown, New Jersey
Source: ClinicalTrials.gov public record
Updated Nov 12, 2020 · Synced Oct 20, 2026, 4:08 PM EDT
Completed Phase 1Phase 2 Interventional Results available

Use of (-)-Epicatechin in the Treatment of Becker Muscular Dystrophy (Pilot Study)

NCT01856868
View directory record Official record
Conditions
Becker Muscular Dystrophy
Interventions
(-)-epicatechin
Drug
Lead sponsor
Craig McDonald, MD
Other
Eligibility
18 Years to 60 Years · Male only
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2018
U.S. locations
1
States / cities
Sacramento, California
Source: ClinicalTrials.gov public record
Updated Dec 22, 2021 · Synced Oct 20, 2026, 4:08 PM EDT
Completed No phase listed Observational

Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia

NCT00004353
View directory record Official record
Conditions
Mitochondrial Myopathy, MELAS Syndrome, Lactic Acidosis
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
Not listed
Enrollment
35 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1978
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Jul 10, 2008 · Synced Oct 20, 2026, 4:08 PM EDT
Completed Phase 1 Interventional

A Phase I/II Open-Labelled Trial of Intravitreal Ganciclovir Salvage Therapy for AIDS Patients With Active CMV Retinitis Who Are Intolerant of Systemic Therapy

NCT00000673
View directory record Official record
Conditions
Cytomegalovirus Retinitis, HIV Infections
Interventions
Ganciclovir
Drug
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
13 Years to 65 Years
Enrollment
38 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Ends 1993
U.S. locations
2
States / cities
Miami, Florida • St Louis, Missouri
Source: ClinicalTrials.gov public record
Updated Oct 27, 2021 · Synced Oct 20, 2026, 4:08 PM EDT
Completed Not applicable Interventional

A Randomized Controlled Study of the Efficacy and Safety of Maintenance Treatment With Oral Ganciclovir for Newly Diagnosed Cytomegalovirus Retinitis in People With AIDS

NCT00002257
View directory record Official record
Conditions
Cytomegalovirus Retinitis, HIV Infections
Interventions
Ganciclovir
Drug
Lead sponsor
Hoffmann-La Roche
Industry
Eligibility
13 Years and older
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
12
States / cities
Berkeley, California • San Francisco, California • Washington D.C., District of Columbia + 6 more
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 20, 2026, 4:08 PM 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 8, 2024 · Synced Oct 20, 2026, 4:08 PM EDT
Recruiting Phase 1 Interventional

A Study of SGT-212 Gene Therapy in Friedreich's Ataxia

NCT07180355
View directory record Official record
Conditions
Friedreich's Ataxia (FA)
Interventions
SGT-212
Drug
Lead sponsor
Solid Biosciences Inc.
Industry
Eligibility
18 Years to 40 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2032
U.S. locations
3
States / cities
Los Angeles, California • Columbus, Ohio • Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Sep 29, 2026 · Synced Oct 20, 2026, 4:08 PM EDT