What side effects are associated with this type of intervention?

Common treatments for Friedreich Ataxia that aim to stabilize cardiolipin and improve mitochondrial function, such as Elamipretide, often focus on enhancing cellular energy production and reducing oxidative stress. Known side effects of these treatments can include gastrointestinal issues (nausea, vomiting, diarrhea), fatigue, headache, and injection site reactions. In some cases, patients may experience more severe effects like liver enzyme abnormalities or renal impairment, necessitating regular monitoring by healthcare providers.

What prior FDA approvals exist?

As of now, there are no FDA-approved treatments specifically for Friedreich Ataxia that work by stabilizing cardiolipin to improve mitochondrial function, similar to Elamipretide. The treatment landscape for Friedreich Ataxia primarily includes investigational drugs and supportive therapies aimed at managing symptoms and improving quality of life. Elamipretide is currently being studied for its potential to treat vision loss in Friedreich Ataxia by targeting mitochondrial dysfunction.

What other types of research exist?

Promising novel alternatives to Elamipretide for Friedreich Ataxia patients include resveratrol, which has shown potential in improving neuromuscular function and reducing pathology in preclinical models. Additionally, high-dose vitamin E therapy has been effective in preventing neuropathy and myopathy in related conditions, suggesting potential benefits for FRDA patients.

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Mitochondrial Peptide

Elamipretide for Friedreich Ataxia Vision Loss (ELViS-FA Trial)

Phase 1 & 2

Waitlist Available

Led By David Lynch, MD, PhD

Research Sponsored by Children's Hospital of Philadelphia

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

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

Disease onset before 18 years of age

Must not have

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

Current use of Metformin

Timeline

Screening 3 weeks

Treatment Varies

Follow Up baseline to 52 weeks

Awards & highlights

No Placebo-Only Group

Summary

This trial is testing Elamipretide, a drug that may help improve vision in patients with Friedreich Ataxia (FRDA). Elamipretide has been studied for its protective effects on eye cells. The study will compare high and low doses of the drug to see if it improves vision.

Who is the study for?

This trial is for individuals over 16 with Friedreich Ataxia (FRDA) causing vision loss and/or cardiomyopathy. Participants must have stable medication use for 30 days prior, visual acuity worse than 20/40 not correctable by glasses, and an ejection fraction less than 50%. They should agree to contraception use and not be pregnant or planning pregnancy. Genetic confirmation of FRDA is required.

What is being tested?

The study tests Elamipretide's safety and effectiveness in treating vision loss associated with FRDA. It aims to understand how well the drug can be tolerated by patients and its impact on their condition.

What are the potential side effects?

While specific side effects of Elamipretide are not listed here, common ones may include reactions at the injection site, fatigue, gastrointestinal issues like nausea or diarrhea, headache, muscle pain or weakness.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below

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My heart's pumping ability is reduced, and I have vision issues but can see fairly well.

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My condition started before I turned 18.

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I am older than 16 years.

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My Friedreich's ataxia is confirmed through genetic testing.

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My condition started before I turned 18.

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I am older than 16 years.

Exclusion Criteria

You may be eligible for the trial if you check “No” for criteria below:

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I do not have severe kidney or liver disease.

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I am currently taking Metformin.

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I have an active HIV or Hepatitis B/C infection.

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I do not have any active eye nerve issues or heart disease caused by vitamin deficiencies.

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I am currently taking medication that weakens my immune system.

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I have an irregular heartbeat that is not under control.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ baseline to 52 weeks

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~baseline to 52 weeks

This trial's timeline: 3 weeks for screening, Varies for treatment, and baseline to 52 weeks for reporting.

Treatment Details

Study Objectives

Study objectives can provide a clearer picture of what you can expect from a treatment.

Primary study objectives

Change in High Contrast Visual Acuity

Secondary study objectives

Change Cardiac Stroke Volume

Change in Cardiac Fibrosis

Change in Cardiac Strain

+4 more

Side effects data

From 2021 Phase 2 & 3 trial • 12 Patients • NCT03098797

100%

Dizziness

60%

Injection site pruritus

60%

Injection site erythema

60%

Injection site pain

40%

Headache

40%

Injection site urticaria

40%

Injection site induration

40%

Nausea

40%

Drug eruption

20%

Gastroenteritis

20%

Viral upper respiratory tract infection

20%

Pain in extremity

20%

Aphthous ulcer

20%

Eczema

20%

Leukopenia

20%

Palpitations

20%

Feeling cold

20%

Vessel puncture site bruise

20%

Injection site cellulitis

20%

Procedural vomiting

20%

Echocardiogram abnormal

20%

Myalgia

20%

Anxiety

20%

Initial insomnia

20%

Urticaria

20%

Vaccination site rash

20%

Eosinophil count increased

100%

80%

60%

40%

20%

Study treatment Arm

Part 2 (OLE): Elamipretide (Sequence AB)

Part 2 (OLE): Elamipretide (Sequence BA)

Part 1: Elamipretide

Part 1: Placebo

Awards & Highlights

No Placebo-Only Group

All patients enrolled in this study will receive some form of active treatment.

Trial Design

2Treatment groups

Experimental Treatment

Group I: Low Dose (20-30mg)Experimental Treatment1 Intervention

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

Group II: High Dose (40-60 mg)Experimental Treatment1 Intervention

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

Treatment

First Studied

Drug Approval Stage

How many patients have taken this drug

Elamipretide

2016

Completed Phase 3

~150

0 / 12Eligibility criteria met

Research Highlights

Information in this section is not a recommendation. We encourage patients to speak with their healthcare team when evaluating any treatment decision.

Mechanism Of Action

Side Effect Profile

Prior Approvals

Other Research

Elamipretide works by stabilizing cardiolipin, a key lipid in the inner mitochondrial membrane, thereby improving mitochondrial function and energy production. This is crucial for Friedreich Ataxia patients, as the disease is characterized by mitochondrial dysfunction leading to impaired energy production and oxidative stress. By enhancing mitochondrial stability and function, treatments like Elamipretide aim to mitigate these core issues, potentially slowing disease progression and improving patient outcomes.