A Phase 1/2 interventional study of Elamipretide in Friedreich Ataxia, sponsored by Children's Hospital of Philadelphia. Completed at 1 site in United States. Open to participants aged 16 Years and older. Per ClinicalTrials.gov, last updated 2025-12-12.
Sponsored by Children's Hospital of Philadelphia · Phase 1/2, Interventional, and Treatment
To evaluate the safety, tolerability, and activity of Elamipretide in treating vision loss in Friedreich Ataxia (FRDA).
To evaluate the effect of high dose (40-60mg) versus low dose (20-30mg) Elamipretide on high contrast visual acuity in FRDA compared to baseline at 52 weeks with the option to extend for an additional 52 weeks if there are objective signs of clinical improvement on primary or secondary endpoints. The interim analysis will be based on data from a 36-week visit. For subjects worse than 20/800 at study start, they will be followed using low vision alternatives only.
107 studies on the registry are indexed under Friedreich Ataxia; 25 are open to participants now.
This study's enrollment of 20 is below the median of 30 across 74 interventional studies indexed under Friedreich Ataxia.
Browse Friedreich Ataxia studies →Children's Hospital of Philadelphia is the lead sponsor of 480 studies on the registry; 85 are open to participants now.
Of its 28 completed or terminated interventional studies of FDA-regulated products, 22 (79%) have results posted.
Counted across the registry records on this site, refreshed daily.
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
Exclusion Criteria:
Subjects will receive daily subcutaneous (SC) dosing of Elamipretide (20-30 mg) for 52 weeks
Drug: Elamipretide
Subjects will receive daily subcutaneous (SC) dosing of Elamipretide (40-60 mg) for 52 weeks
Drug: Elamipretide
Elamipretide is a tetra peptide with limited blood brain barrier penetration being developed for use in a variety of mitochondrial disorders, including FRDA, mitochondrial myopathy and Barth Syndrome.
Also known as: MTP-131, SS-31
Change in High Contrast Visual Acuity
Change in High Contrast Visual Acuity will be measured by assessing the differences in the number of letters read (binocular) on the ETDRS High Contrast Visual Acuity Chart between groups (low dose and high dose).
Time frame: Baseline to 52 weeks
Change in Low Contrast Visual Acuity
Change in Low Contrast Visual Acuity will be measured by assessing the differences in the number of letters read (binocular) on the ETDRS Low Contrast Visual Acuity Chart between groups (low dose and high dose).
Time frame: Baseline to 52 weeks
Change in Low Luminescence Visual Activity
Change in Low Luminescence Visual Acuity will be measured by assessing the difference in the number of letters read (binocular) on the ETDRS High Contrast Visual Acuity Chart with Low Luminescence Filter between groups (low dose and high dose).
Time frame: Baseline to 52 weeks
Change in Retinal Nerve Fiber Layer by Optical Coherence Tomography (OCT)
The change in thickness of the retinal nerve fiber layer between groups (low dose and high dose) will be measured using the OCT, a non-invasive imaging test that uses light waves to take cross-section pictures of the retina.
Time frame: Baseline to 52 weeks
Change in Visual Quality of Life by Visual Functioning Questionnaire (VFQ)
The VFQ is a 25-item patient reported outcome on visual symptomology to assess change in patient self-report of visual ability over time compared to baseline between groups (low dose and high dose). The VFQ-25 consists of a base set of 25 vision-targeted questions representing 11 vision-related constructs, plus an additional single-item general health rating question. Each item is then converted to a 0 to 100 scale. The summary statistic is the difference in mean values from Baseline to Week 52. A negative value represents a worsening over time and a positive value represents improvement.
Time frame: Baseline to 52 weeks
Change in Cardiac Strain
The change in cardiac strain (dL/L) in each dimension per cardiac cycle between groups (low dose and high dose) is measured by speckle tracking on imaging.
Time frame: Baseline to 36 weeks
Change in Cardiac Fibrosis
The change in cardiac fibrosis over time by T1 mapping using late gadolinium enhancement between groups (low dose and high dose).
Time frame: Baseline to 36 weeks
Change Cardiac Stroke Volume
The change in stroke volume will be calculated by Ejection Fraction x Ventricular Volume x Pulse Rate, over time between groups (low dose and high dose).
Time frame: Baseline to 36 weeks
| Milestone | Low Dose (20-30mg) | High Dose (40-60 mg) |
|---|---|---|
| Started | 8 | 8 |
| Completed | 4 | 4 |
| Not completed | 4 | 4 |
| Withdrew: Lack of efficacy | 1 | 2 |
| Withdrew: Withdrawal by subject | 1 | 2 |
| Withdrew: Adverse event | 2 | 0 |
Change in High Contrast Visual Acuity will be measured by assessing the differences in the number of letters read (binocular) on the ETDRS High Contrast Visual Acuity Chart between groups (low dose and high dose).
| Number of Letters Read on a Vision Board | Low Dose (20-30mg) | High Dose (40-60 mg) |
|---|---|---|
| Change in High Contrast Visual Acuity | 5.5 (0 to 6) | 0 (-5 to 6) |
Change in Low Contrast Visual Acuity will be measured by assessing the differences in the number of letters read (binocular) on the ETDRS Low Contrast Visual Acuity Chart between groups (low dose and high dose).
| Number of Letters Read on a Vision Board | Low Dose (20-30mg) | High Dose (40-60 mg) |
|---|---|---|
| Change in Low Contrast Visual Acuity | 0 (0 to 0) | 0 (0 to 0) |
Change in Low Luminescence Visual Acuity will be measured by assessing the difference in the number of letters read (binocular) on the ETDRS High Contrast Visual Acuity Chart with Low Luminescence Filter between groups (low dose and high dose).
| Number of Letters Read on a Vision Board | Low Dose (20-30mg) | High Dose (40-60 mg) |
|---|---|---|
| Change in Low Luminescence Visual Activity | 0.5 (0 to 2) | 0 (0 to 0) |
The change in thickness of the retinal nerve fiber layer between groups (low dose and high dose) will be measured using the OCT, a non-invasive imaging test that uses light waves to take cross-section pictures of the retina.
No measurements were reported for this outcome.
The VFQ is a 25-item patient reported outcome on visual symptomology to assess change in patient self-report of visual ability over time compared to baseline between groups (low dose and high dose). The VFQ-25 consists of a base set of 25 vision-targeted questions representing 11 vision-related constructs, plus an additional single-item general health rating question. Each item is then converted to a 0 to 100 scale. The summary statistic is the difference in mean values from Baseline to Week 52. A negative value represents a worsening over time and a positive value represents improvement.
| Units on a scale | Low Dose (20-30mg) | High Dose (40-60 mg) |
|---|---|---|
| Change in Visual Quality of Life by Visual Functioning Questionnaire (VFQ) | -2.42 ± 3.85 | 2.08 ± 5.77 |
The change in cardiac strain (dL/L) in each dimension per cardiac cycle between groups (low dose and high dose) is measured by speckle tracking on imaging.
No measurements were reported for this outcome.
The change in cardiac fibrosis over time by T1 mapping using late gadolinium enhancement between groups (low dose and high dose).
No measurements were reported for this outcome.
The change in stroke volume will be calculated by Ejection Fraction x Ventricular Volume x Pulse Rate, over time between groups (low dose and high dose).
| percentage of change in stroke volume | Low Dose (20-30mg) | High Dose (40-60 mg) |
|---|---|---|
| Change Cardiac Stroke Volume | 0.12 ± 0.16 | -0.02 ± 0.29 |
Collected over AE's were assessed for approximately 104 weeks (2 years).. Non-serious events are listed at a 5% frequency threshold.
| Group | Deaths | Serious | Other |
|---|---|---|---|
| Low Dose (20-30mg) | 0/8 (0%) | 2/8 (25%) | 8/8 (100%) |
| High Dose (40-60 mg) | 0/8 (0%) | 2/8 (25%) | 8/8 (100%) |
| Event | Low Dose (20-30mg) | High Dose (40-60 mg) |
|---|---|---|
| Aspiration PneumoniaRespiratory, thoracic and mediastinal disorders | 0/8 | 1/8 |
| Acute Perforated AppendicitisSurgical and medical procedures | 0/8 | 1/8 |
| Vasovagal EpisodeNervous system disorders | 1/8 | 0/8 |
| PneumoniaRespiratory, thoracic and mediastinal disorders | 1/8 | 0/8 |
| Pulmonary EmbolismRespiratory, thoracic and mediastinal disorders | 1/8 | 0/8 |
| Event | Low Dose (20-30mg) | High Dose (40-60 mg) |
|---|---|---|
| Injection Site Reaction: Erythema or RednessSkin and subcutaneous tissue disorders | 3/8 | 6/8 |
| Injection Site Reaction: Induration or SwellingSkin and subcutaneous tissue disorders | 4/8 | 6/8 |
| Injection Site Reaction: Pruritus or ItchingSkin and subcutaneous tissue disorders | 6/8 | 6/8 |
| COVID-19Infections and infestations | 2/8 | 5/8 |
| Viral Rhinitis or Upper Respiratory InfectionRespiratory, thoracic and mediastinal disorders | 1/8 | 4/8 |
| Injection Site Reaction: Pain, Tenderness, or BurningSkin and subcutaneous tissue disorders | 3/8 | 1/8 |
| Injection Site Reaction: Urticaria or HivesSkin and subcutaneous tissue disorders | 3/8 | 2/8 |
| EdemaVascular disorders | 3/8 | 0/8 |
| Injection Site Reaction: BruisingSkin and subcutaneous tissue disorders | 2/8 | 1/8 |
| Viral GastroenteritisGastrointestinal disorders | 1/8 | 2/8 |
Of the 20 enrolled participants, 4 subjects screen failed and did not meet the study inclusion criteria. Of the 16 subjects who received treatment and 8 subjects withdrew after consenting and starting treatment from the study. 8 subjects completed all study visits.
| Age, Customized(Participants) | Low Dose (20-30mg) | High Dose (40-60 mg) | Total |
|---|---|---|---|
| 18-24 (years) | 3 | 2 | 5 |
| 25-34 (years) | 2 | 2 | 4 |
| 35-44 (years) | 2 | 2 | 4 |
| 45-54 (years) | 0 | 2 | 2 |
| 55-64 (years) | 1 | 0 | 1 |
| Sex: Female, Male(Participants) | Low Dose (20-30mg) | High Dose (40-60 mg) | Total |
|---|---|---|---|
| Female | 6 | 2 | 8 |
| Male | 2 | 6 | 8 |
| Ethnicity (NIH/OMB)(Participants) | Low Dose (20-30mg) | High Dose (40-60 mg) | Total |
|---|---|---|---|
| Hispanic or Latino | 1 | 1 | 2 |
| Not Hispanic or Latino | 7 | 7 | 14 |
| Unknown or Not Reported | 0 | 0 | 0 |
| Race (NIH/OMB)(Participants) | Low Dose (20-30mg) | High Dose (40-60 mg) | Total |
|---|---|---|---|
| American Indian or Alaska Native | 0 | 0 | 0 |
| Asian | 1 | 0 | 1 |
| Native Hawaiian or Other Pacific Islander | 0 | 0 | 0 |
| Black or African American | 0 | 0 | 0 |
| White | 6 | 8 | 14 |
| More than one race | 1 | 0 | 1 |
| Unknown or Not Reported | 0 | 0 | 0 |
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Children's Hospital of Philadelphia