FRDA Investigator Initiated Study (IIS) With Elamipretide

NCT ID: NCT05168774

Last Updated: 2025-12-12

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: PHASE1/PHASE2
• Total Enrollment: 20 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2022-03-03
• Study Completion Date: 2024-07-25

Brief Summary

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.

Conditions

Friedreich Ataxia

Study Design

• Allocation Method: RANDOMIZED
• Intervention Model: PARALLEL
• Primary Study Purpose: TREATMENT
• Blinding Strategy: NONE

Study Groups

Low Dose (20-30mg)

Subjects will receive daily subcutaneous (SC) dosing of Elamipretide (20-30 mg) for 52 weeks

Group Type: EXPERIMENTAL

Elamipretide

Intervention Type: DRUG

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.

High Dose (40-60 mg)

Subjects will receive daily subcutaneous (SC) dosing of Elamipretide (40-60 mg) for 52 weeks

Group Type: EXPERIMENTAL

Elamipretide

Intervention Type: DRUG

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.

Interventions

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.

Intervention Type: DRUG

Other Intervention Names

MTP-131; SS-31

Eligibility Criteria

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

• Minimum Eligible Age: 16 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Stealth BioTherapeutics Inc.

INDUSTRY

Sponsor Role: collaborator

Friedreich's Ataxia Research Alliance

OTHER

Sponsor Role: collaborator

Children's Hospital of Philadelphia

OTHER

Sponsor Role: lead

Responsible Party

David Lynch

Professor of Neurology in Pediatrics at the Children's Hospital of Philadelphia

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

David Lynch, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Children's Hospital of Philadelphia

Locations

Children's Hospital of Philadelphia - Neurology

Philadelphia, Pennsylvania, United States

Countries

United States

Provided Documents

Document Type: Study Protocol and Statistical Analysis Plan

View Document

Document Type: Informed Consent Form

View Document

Other Identifiers

SPIFA-101

Identifier Type: OTHER

Identifier Source: secondary_id

20-018049

Identifier Type: -

Identifier Source: org_study_id