Friedreich AtaxiaPhase 1/2ELViS-FANCT05168774
FRDA Investigator Initiated Study (IIS) With Elamipretide
A Phase 1/2 study testing Elamipretide in people with Friedreich Ataxia, run by Children's Hospital of Philadelphia at 1 site in United States.
Trial summary
To evaluate the safety, tolerability, and activity of Elamipretide in treating vision loss in Friedreich Ataxia (FRDA). Read more about this study
- Who is it for?
- Ages 16 years and older
- Conditions the study is for
- Friedreich Ataxia
- What is being tested?
- Elamipretide
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 20 participants
- Where
- 1 siteUnited States
- Study dates
- 3 Mar 2022to 25 Jul 2024
- Phase
- Phase 1/2
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 16 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Genetically confirmed FRDA (point mutations allowed).
- Age >16 years.
- Disease onset before 18 years of age.
- 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.
- 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.
- 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.
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- 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
- 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.
Who cannot join
- Any unstable illness that in the investigator's opinion precludes participation in the study.
- Use of any investigational product within 30 days prior to Screening.
- A history of substance abuse.
- Diagnosis of active HIV or Hepatitis B or C infection.
- 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.
- 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.
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- Any other active cause of optic neuropathy (Vitamin B12 deficiency, Vitamin E deficiency, etc.) or cardiac disease
- EF less than 35% at last echocardiographic evaluation
- Uncontrolled arrhythmia
- Current use of any systemic chronic immunosuppressive drugs
- Current use of Metformin
Trial locations and contacts
1 site in 1 country.
United States1 site
Children's Hospital of Philadelphia - Neurology
Philadelphia, Pennsylvania, 19104
About this study
Official title: A Pilot Investigator Initiated Study to Evaluate the Safety, Tolerability and Efficacy of Elamipretide in the Treatment of Advanced Symptoms of Friedreich Ataxia (FRDA)
To evaluate the safety, tolerability, and activity of Elamipretide in treating vision loss in Friedreich Ataxia (FRDA).
Read the detailed description
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.
- Conditions
- Friedreich Ataxia
- Being tested
- Elamipretide
- Keywords
- Friedreich Ataxia
- Medical subject headings
- Friedreich Ataxia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
ElamipretideDrug
Also called MTP-131, SS-31
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.
| Study group | Role | What they receive |
|---|---|---|
| Low Dose (20-30mg) | Experimental | Subjects will receive daily subcutaneous (SC) dosing of Elamipretide (20-30 mg) for 52 weeks Receives: Drug: Elamipretide |
| High Dose (40-60 mg) | Experimental | Subjects will receive daily subcutaneous (SC) dosing of Elamipretide (40-60 mg) for 52 weeks Receives: Drug: Elamipretide |
What is being measured
The primary outcome is the main question the study is designed to answer.
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).
Measured: Baseline to 52 weeks
Secondary outcomes (7)
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).
Measured: 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).
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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).
Measured: 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).
Measured: Baseline to 36 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Dec 2021
- Study start3 Mar 2022
- Primary completion25 Jun 2024
- Study completion25 Jul 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Other trials for Friedreich AtaxiaStudies of the same condition, open and under way.
- More trials run by Children's Hospital of PhiladelphiaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1/2
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 20 participants (actual)
Sponsor and investigators
- Lead sponsor
- Children's Hospital of Philadelphia
- Sponsor type
- University, hospital or other
- Collaborators
- Friedreich's Ataxia Research Alliance, Stealth BioTherapeutics Inc.
- Responsible party
- Principal investigator, David Lynch, Children's Hospital of Philadelphia
- Investigators
- David Lynch, MD, PhD, Principal investigator, Children's Hospital of Philadelphia
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05168774
- Sponsor's protocol ID
- 20-018049
- Other IDs
- SPIFA-101
- Acronym
- ELViS-FA
- Status last verified
- Nov 2025
- First submitted
- 9 Dec 2021
- Last updated
- 12 Dec 2025
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
- Expanded access
- Available
Study at a glance
From the registry record, last updated by the sponsor on 12 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Pilot Investigator Initiated Study to Evaluate the Safety, Tolerability and Efficacy of Elamipretide in the Treatment of Advanced Symptoms of Friedreich Ataxia (FRDA)
- ClinicalTrials.gov ID
- NCT05168774
- Acronym / sponsor ID
- ELViS-FA / 20-018049
- Conditions
- Friedreich Ataxia
- Keywords
- Friedreich Ataxia
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 20 participants (actual)
- Lead sponsor
- Children's Hospital of PhiladelphiaUniversity, hospital or other
- Collaborators
- Friedreich's Ataxia Research Alliance, Stealth BioTherapeutics Inc.
- Study start
- 3 Mar 2022 (actual)
- Primary completion
- 25 Jun 2024 (actual)
- Study completion
- 25 Jul 2024 (actual)
- First posted
- 23 Dec 2021 (actual)
- Results
- Posted 12 Dec 2025
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
To evaluate the safety, tolerability, and activity of Elamipretide in treating vision loss in Friedreich Ataxia (FRDA).
Detailed description
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Low Dose (20-30mg) | Experimental | Drug: ElamipretideSubjects will receive daily subcutaneous (SC) dosing of Elamipretide (20-30 mg) for 52 weeks |
| High Dose (40-60 mg) | Experimental | Drug: ElamipretideSubjects will receive daily subcutaneous (SC) dosing of Elamipretide (40-60 mg) for 52 weeks |
Who may qualify
- Ages
- 16 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (9 listed)
- Genetically confirmed FRDA (point mutations allowed).
- Age >16 years.
- Disease onset before 18 years of age.
- 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.
- 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.
Key exclusion criteria (11 listed)
- Any unstable illness that in the investigator's opinion precludes participation in the study.
- Use of any investigational product within 30 days prior to Screening.
- A history of substance abuse.
- Diagnosis of active HIV or Hepatitis B or C infection.
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| ElamipretideAlso: MTP-131, SS-31Elamipretide 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. | Drug | High Dose (40-60 mg), Low Dose (20-30mg) |
Primary outcome
Change in High Contrast Visual Acuity
Time frame: Baseline to 52 weeks
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).
7 secondary outcomes
Change in Low Contrast Visual Acuity
Time frame: Baseline to 52 weeks
Change in Low Luminescence Visual Activity
Time frame: Baseline to 52 weeks
Change in Retinal Nerve Fiber Layer by Optical Coherence Tomography (OCT)
Time frame: Baseline to 52 weeks
Change in Visual Quality of Life by Visual Functioning Questionnaire (VFQ)
Time frame: Baseline to 52 weeks
Change in Cardiac Strain
Time frame: Baseline to 36 weeks
Change in Cardiac Fibrosis
Time frame: Baseline to 36 weeks
Change Cardiac Stroke Volume
Time frame: Baseline to 36 weeks
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Dec 2025.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
David Lynch, MD, PhD principal investigator
Children's Hospital of Philadelphia
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing Elamipretide in people with Friedreich Ataxia, run by Children's Hospital of Philadelphia at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 9 inclusion and 11 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 12 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this combined phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
Yes. Results are posted in the registry (first posted 12 Dec 2025). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in High Contrast Visual Acuity (time frame: Baseline to 52 weeks). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 12 Dec 2025.