A Trial to Evaluate Safety, Tolerability and Efficacy of Elamipretide in Subjects With Barth Syndrome

A Phase 2 Randomized, Double-Blind, Placebo-Controlled Crossover Trial to Evaluate the Safety and Efficacy of Subcutaneous Injections of Elamipretide in Subjects With Genetically Confirmed Barth Syndrome Followed by Open-Label Treatment

A randomized, double-blind cross over trial to evaluate the safety, efficacy, and tolerability of elamipretide in subjects with Barth syndrome.

A phase 2 randomized, double-blind, placebo-controlled crossover trial to evaluate the safety, tolerability, and efficacy of subcutaneous injections of elamipretide in subjects with genetically confirmed Barth syndrome followed by open-label treatment extension. Part 1 was a randomized, double-blind, placebo-controlled, crossover trial to assess safety, tolerability, and efficacy single daily subcutaneous (SC) doses of 40 mg elamipretide administered for 12 weeks in subjects with Barth syndrome. Part 2: This was an open-label extension trial to assess the long-term safety, tolerability, and longitudinal trends in efficacy single daily SC doses of 40 mg elamipretide for up to 192 weeks.

Inclusion Criteria:

• Genetically confirmed Barth Syndrome

• Male aged 12 and above

• At the screening visit, eGFR must meet the following:

  1. Body weight >30 kg AND eGFR ≥ 90mL/min at screening
  2. Body weight >40kg AND eGFR ≥60 but <90mL/min/ 1.73m² at screening

• Ambulatory and impaired during the baseline 6MWT

• On stable medication for 30 days prior to the baseline visit

Exclusion Criteria:

• Participated in another interventional clinical trial within 30 days of or is currently enrolled in a non-interventional clinical trial at the baseline visit potentially confounding with this trial
• Prior or current medical condition that would prevent the subject from safely participating in the trial
• Undergone any inpatient hospitalizations within 30 days of the baseline visit
• Is undergoing an apparent pubertal growth spurt
• Has uncontrolled hypertension
• History of substance abused within the year before the baseline visit or is likely to be uncompliant
• History of heart transplantation or current placement on the waiting list for a heart transplant
• For subjects with an ICD: known occurrence of ICD discharge in the 3 months prior to the baseline visit
• For subjects without an ICD: expected to undergo an implantation of an ICD during the conduct of the study
• Currently receiving treatment with chemotherapeutic agents or immunosuppressant agents or has received prior radiation therapy to the chest
• Recipient of stem cell or gene therapy or is currently being treated by a therapeutic investigational device