Peptide Library

Human study PLS-00112

A phase 2/3 randomized clinical trial followed by an open-label extension to evaluate the effectiveness of elamipretide in Barth syndrome, a genetic disorder of mitochondrial cardiolipin metabolism.

Randomized controlled trial · 12 participants enrolled

Version 1 · published November 7, 2026 · evidence through November 7, 2026 · research snapshot 2026.1.1 · methodology ev-1 · Automated assessment by AI (claude-opus-5-5 and claude-sonnet-5-5), not reviewed by a person.

Only the abstract was available. Essential methods may be missing, which limits what can be judged.

Reports of this study

Every publication, registration and abstract describing this one study. Participants are counted once.

  • A phase 2/3 randomized clinical trial followed by an open-label extension to evaluate the effectiveness of elamipretide in Barth syndrome, a genetic disorder of mitochondrial cardiolipin metabolism.primary · Genetics in medicine : official journal of the American College of Medical Genetics · 2020-10-20 · PMID 33077895 · DOI

Design and participants

Design
Randomized controlled trial
Population
Subjects with Barth syndrome (BTHS), a genetic condition caused by TAZ defects that produce abnormal mitochondrial cardiolipin. Age and sex are not stated in the abstract.
Conditions
Barth syndrome
Planned enrollment (registry)
Not reported
Enrolled
12
Randomized
12
Completed follow-up
Not reported
Funding
Publication type lists Research Support, Non-U.S. Gov't; specific funders are not stated in the record.
Authors’ conflicts
Not stated in the record.

Intervention and comparator

What each group received. Related peptides, analogs and combinations are never treated as the compound itself.

  • Elamipretide (part 1 crossover period) (intervention) · elamipretide · Elamipretide, a mitochondrial tetrapeptide that interacts with cardiolipin, given daily for 12 weeks in a randomized crossover sequence. · 12 weeks per crossover period, with a 4-week washout between periods · 12 assigned
  • Placebo (part 1 crossover period) (comparator) · Placebo given for 12 weeks in a randomized double-blind crossover sequence. · placebo · 12 weeks per crossover period, with a 4-week washout between periods · 12 assigned
  • Elamipretide open-label extension (part 2) (intervention) · elamipretide · Open-label daily elamipretide after the crossover part. Ten subjects continued and eight reached 36 weeks. · Up to 36 weeks in the open-label extension · 10 assigned

What the authors reported

As stated in the sources. This is the authors’ account, not Peptide Library’s assessment.

6-minute walk test (6MWT) distance

primary outcome · patient-important · End of 12-week crossover periods (part 1); 36 weeks of the open-label extension (part 2) · 6-minute walk test distance in metres

  • Elamipretide (part 1 crossover period) vs Placebo (part 1 crossover period): narrative — Primary endpoint not met in part 1
  • Elamipretide open-label extension (part 2): change from baseline 95.9, p = 0.024 — Significant improvement in 6MWT of +95.9 m at 36 weeks of part 2

BTHS Symptom Assessment (BTHS-SA) score

primary outcome · patient-important · End of 12-week crossover periods (part 1); 36 weeks of the open-label extension (part 2) · Barth syndrome symptom assessment scale; lower values indicate improvement

  • Elamipretide (part 1 crossover period) vs Placebo (part 1 crossover period): narrative — Primary endpoint not met in part 1
  • Elamipretide open-label extension (part 2): change from baseline -2.1, p = 0.031 — Significant improvement in BTHS-SA of -2.1 points at 36 weeks of part 2

Knee extensor strength

secondary outcome · patient-important · Reported alongside the part 2 36-week results · Knee extensor muscle strength; method not described in abstract

  • Elamipretide open-label extension (part 2): narrative — Significant improvement in knee extensor strength reported as a secondary endpoint

Patient global impression of symptoms

secondary outcome · patient-important · Reported alongside the part 2 36-week results · Patient global impression of symptoms rating

  • Elamipretide open-label extension (part 2): narrative — Significant improvement in patient global impression of symptoms reported

Cardiac parameters

secondary outcome · surrogate · Reported alongside the part 2 36-week results · Unspecified cardiac parameters

  • Elamipretide open-label extension (part 2): narrative — Significant improvements in some cardiac parameters reported

Adverse events

None reported. That is not evidence of safety.

Monitoring: Not described in the abstract; no adverse event or tolerability data are reported in the record.

The authors concluded (paraphrased): The authors concluded that daily elamipretide improved Barth syndrome symptoms. The primary endpoints were not met in the randomized crossover part, and the improvements were seen at 36 weeks of the open-label extension.

Peptide Library’s assessment

An automated assessment, made by AI separately from the authors’ conclusions and not reviewed by a person. How risk of bias is assessed.

Limitations

  • small or imprecise: Only 12 subjects were randomized and eight reached 36 weeks of the extension; no confidence intervals are reported.
  • no control group: The positive 6MWT and BTHS-SA results come from the open-label extension (part 2), which had no placebo comparison.
  • inadequate blinding: Part 2 was open-label, and its outcomes are effort-dependent or self-reported (6MWT, symptom scale, global impression), so they are prone to expectation bias.
  • incomplete follow up: Ten of 12 subjects entered the extension and only eight reached 36 weeks, so attrition could bias the within-group changes.
  • selective reporting: Only 'some' cardiac parameters improved, and the abstract emphasises extension results after both randomized primary endpoints failed.
  • abstract only: Only the PubMed abstract is available, so randomization, analysis, adverse events and funding details cannot be verified.
  • other: The crossover design with a 4-week washout may allow carryover effects; how the crossover was analysed is not described in the abstract.

No risk-of-bias assessment has been published for this study’s results.

Claims this study informs

  • Insufficient information to assess Muscle strength, exercise capacity and fatigue

Where each value comes from

  • arms: PMID 33077895, abstract (Methods, sentences 1-3) · extracted by AI (automated, not verified by a person) · abstract only
  • author_conclusion: PMID 33077895, abstract (Conclusion, sentence 1) · extracted by AI (automated, not verified by a person) · abstract only
  • design: PMID 33077895, abstract (Methods, sentence 1) · extracted by AI (automated, not verified by a person) · abstract only
  • limitations: PMID 33077895, abstract (Methods, sentence 3; Results, sentences 1-3) · extracted by AI (automated, not verified by a person) · abstract only
  • outcomes: PMID 33077895, abstract (Methods, sentence 4; Results, sentence 3) · extracted by AI (automated, not verified by a person) · abstract only
  • participants: PMID 33077895, abstract (Methods, sentences 2-3) · extracted by AI (automated, not verified by a person) · abstract only
  • population: PMID 33077895, abstract (Purpose, sentence 1) · extracted by AI (automated, not verified by a person) · abstract only
  • results: PMID 33077895, abstract (Results, sentences 1-3) · extracted by AI (automated, not verified by a person) · abstract only

  • Version 1 · published November 7, 2026 · evidence through November 7, 2026 · research snapshot 2026.1.1 · methodology ev-1 · Automated assessment by AI (claude-opus-5-5 and claude-sonnet-5-5), not reviewed by a person.

These assessments describe published research. Records marked automated were produced by AI under the published methodology and have not been reviewed by a person; they can contain errors. None of this is medical advice, not a statement about any product’s safety for human use, and not a regulatory approval. Peptide Library’s vendor and partner relationships play no part in them (editorial independence).