Can a mitochondrial drug restore sight in friedreich ataxia?
NCT ID NCT05168774
First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This pilot study tested the drug elamipretide in 20 people with Friedreich ataxia to see if it could safely improve vision loss. Participants received either a low or high dose, and researchers measured changes in eyesight. The study is complete, but results are not yet available.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- Active substance
- elamipretide
- What this could lead to
- If it works, this could point toward a treatment for vision loss in Friedreich ataxia.
- What could go wrong
- This is a very small, early-phase pilot study with only 20 participants. The drug may not improve vision, and results may not apply to other symptoms of Friedreich ataxia.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Phase
-
Phase 1/2
Runs two stages together: safety and dose first, then whether the treatment works.
- Participants
-
20 people
The number who actually took part.
- Started
-
Mar 2022
- Finished
-
Jul 2024
- Lead sponsor
-
Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
- Ages
-
16 years and older
- Sex
-
Anyone
- Healthy volunteers
-
Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: 1. Genetically confirmed FRDA (point mutations allowed). 2. Age \>16 years. 3. Disease onset before 18 years of age. 4. If female, the subject is not pregnant or lactating or intending to become pregnant before, during, or within 30 days after the last dose of study drug. Female subjects of child-bearing potential must have a negative serum pregnancy test result at Screening, a negative urine pregnancy test result at Baseline. 5. All subjects must agree to use a reliable method of contraception throughout the study and for 30 days after the last dose of study drug. Male subjects should not father a baby during the study or for at least 30 days after the last dose of study drug. 6. All concomitant medications (including over-the-counter medications), vitamins, and supplements must be at stable doses for 30 days prior to study entry and kept stable throughout the study to the best of their ability. 7. Visual acuity (VA) worse than 20/40 (binocular) on the basis of FRDA. Must not be correctable by refraction, or subjects must have sufficient physical exam findings of optic neuropathy (funduscopic, visual fields, or retinal ganglion cell loss) to justify the primary diagnosis of FRDA related optic neuropathy Or 8. Ejection Fraction (EF) less than 50% at last evaluation (within 1 year before screening), with a history consistent with cardiomyopathy from FRDA, and VA 20/25- 20/40. Exclusion Criteria: 1. Any unstable illness that in the investigator's opinion precludes participation in the study. 2. Use of any investigational product within 30 days prior to Screening. 3. A history of substance abuse. 4. Diagnosis of active HIV or Hepatitis B or C infection. 5. Presence of severe renal disease (eGFR \<30 mL/min) or hepatic disease \[aspartate aminotransferase (AST) or alanine aminotransferase (ALT) \>2x the upper limit of normal\] as evidenced by laboratory results at Screening. 6. Clinically significant abnormal white blood cell count (ANC \<1500), hemoglobin (\< 9.0 gm/dL), or platelet count (100 K or \>500 K) as evidenced by laboratory test results at Screening. 7. Any other active cause of optic neuropathy (Vitamin B12 deficiency, Vitamin E deficiency, etc.) or cardiac disease 8. EF less than 35% at last echocardiographic evaluation 9. Uncontrolled arrhythmia 10. Current use of any systemic chronic immunosuppressive drugs 11. Current use of Metformin
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
-
Children's Hospital of Philadelphia - Neurology
Philadelphia, Pennsylvania, 19104, United States
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