Human study PLS-00099

Expanded-access use of elamipretide in a newborn with Barth syndrome: a case report.

Case report · 1 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.

Expanded-access use of elamipretide in a newborn with Barth syndrome: a case report.primary · European heart journal. Case reports · 2025-01-22 · PMID 39917770 · DOI

Design and participants

Design: Case report
Population: A male infant diagnosed in utero with Barth syndrome. At birth he had a moderately dilated left ventricle with reduced ejection fraction and needed intubation and haemodynamic support.
Conditions: Barth syndrome, Cardiomyopathy, Heart failure
Setting: Tertiary children's hospital (expanded-access use)
Planned enrollment (registry): Not reported
Enrolled: 1
Randomized: Not reported
Completed follow-up: Not reported
Funding: Not reported
Authors’ conflicts: Not reported

Intervention and comparator

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

Elamipretide (intervention) · elamipretide · Elamipretide given daily under expanded access, with dose escalation. Standard-of-care oral heart failure medications followed. · Intravenous, then subcutaneous after discharge · Started on day of life 34 and continued after discharge on day of life 61 · 1 assigned

What the authors reported

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

Left ventricular ejection fraction

unclear outcome · surrogate · Serial echocardiograms after treatment start; most recent echocardiogram · Echocardiography

Elamipretide: narrative — LVEF improved to near-normal after treatment; the most recent echocardiogram showed LVEF of 60%, versus 20% at birth before treatment

Oxygen weaning and hospital discharge

unclear outcome · patient-important · Day of life 49 (oxygen) and day of life 61 (discharge) · Clinical course

Elamipretide: narrative — Weaned off oxygen completely on day of life 49 and discharged home on day of life 61

Adverse events

None reported. That is not evidence of safety.

Monitoring: Not reported in the abstract.

The authors concluded (paraphrased): The authors suggest that elamipretide may have contributed to the improvement of left ventricular function in this infant with Barth syndrome. They see this as support for early use, consistent with prior studies.

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

no control group: Single treated patient with no comparator, so the improvement cannot be attributed to elamipretide.
confounding: LVEF was already improving before elamipretide began. Standard-of-care heart failure medications were started alongside it.
small or imprecise: Only one patient was described, so the findings cannot be generalized.
inappropriate endpoint: The main reported outcome, LVEF, is an imaging surrogate rather than function, exercise or fatigue.
abstract only: Only the abstract was available; methods, safety data and funding were not reported.
selective reporting: No adverse events or safety monitoring are described in the available record.

Left ventricular ejection fraction: Serious concern (Structured limitations appraisal)

For uncontrolled studies, case series and case reports, where no validated comparative tool applies. It lists limitations; it is not a risk-of-bias rating.

Domain judgments
Control group	Serious concern	Single case report with no comparator group or untreated control.
Selection of participants	Serious concern	Single reported case from expanded access; selection for reporting likely favors a positive outcome.
Confounding	Serious concern	Improvement had begun before treatment, and heart failure medications were started concurrently.
Follow-up and attrition	Not reported	The abstract gives no total follow-up duration for the most recent echocardiogram.
Outcome measurement	Some concern	Echocardiography was unblinded and performed with knowledge of treatment; the method is not detailed.
Completeness of reporting	Some concern	Only selected echocardiographic values are reported in the abstract; full data are unavailable.
Precision	Serious concern	n=1 with no statistical estimate or interval reported.
Funding and conflicts of interest	Not reported	Funding and conflicts of interest are not stated in the record.

An uncontrolled single case with concurrent therapies and pre-existing improvement does not allow attribution of the effect.

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

Oxygen weaning and hospital discharge: Serious concern (Structured limitations appraisal)

For uncontrolled studies, case series and case reports, where no validated comparative tool applies. It lists limitations; it is not a risk-of-bias rating.

Domain judgments
Control group	Serious concern	Single case report with no comparator group or untreated control.
Selection of participants	Some concern	The patient was selected for expanded access and case publication; representativeness is unknown.
Confounding	Serious concern	Extubation and recovery preceded treatment, and heart failure medications were started concurrently.
Follow-up and attrition	Not reported	Post-discharge follow-up duration is not given in the abstract.
Outcome measurement	Some concern	Clinical milestones depend on unblinded clinician decisions about weaning and discharge.
Completeness of reporting	Some concern	Only a narrative clinical course is given in the abstract record.
Precision	Serious concern	A single patient provides no estimate of effect or precision.
Funding and conflicts of interest	Not reported	Funding and conflicts of interest are not stated in the record.

Uncontrolled n=1 report confounded by the natural course and concurrent therapy.

Claims this study informs

Improves function in Barth syndrome: not eligible (wrong outcome) for “Muscle strength, exercise capacity and fatigue”
Improves exercise capacity in primary mitochondrial myopathy: not eligible (wrong population) for “Six-minute walk distance and fatigue”
Is safe for human administration: not eligible (insufficient data) for “Adverse events, including injection-site reactions, and discontinuations”

Where each value comes from

arms: PMID 39917770, abstract (Case summary, sentences 4 and 6) · extracted by AI (automated, not verified by a person) · abstract only
author_conclusion: PMID 39917770, abstract (Discussion, sentences 1-2) · extracted by AI (automated, not verified by a person) · abstract only
design: PMID 39917770, title (title) · extracted by AI (automated, not verified by a person) · abstract only
limitations: PMID 39917770, abstract (Case summary, sentences 3-4) · extracted by AI (automated, not verified by a person) · abstract only
outcomes: PMID 39917770, abstract (Case summary, sentences 5-7) · extracted by AI (automated, not verified by a person) · abstract only
participants: PMID 39917770, abstract (Case summary, sentence 1) · extracted by AI (automated, not verified by a person) · abstract only
population: PMID 39917770, abstract (Case summary, sentences 1-2) · extracted by AI (automated, not verified by a person) · abstract only
results: PMID 39917770, abstract (Case summary, sentences 5-7) · 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).