Human study PLS-00101

Cardiac pathology in a patient with a novel pathogenic variant c.703del (p.Ile235SerfsTer4) of the TAFAZZIN gene.

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.

Cardiac pathology in a patient with a novel pathogenic variant c.703del (p.Ile235SerfsTer4) of the TAFAZZIN gene.primary · Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology · 2025-07-10 · PMID 40645388 · DOI

Design and participants

Design: Case report
Population: A full-term male infant with Barth syndrome due to a novel pathogenic TAFAZZIN c.703del variant. He presented with postnatal cardiogenic shock that required VA-ECMO and was waitlisted for cardiac transplantation.
Conditions: Barth syndrome, Dilated cardiomyopathy, Cardiogenic shock, Endocardial fibroelastosis
Setting: Hospital care with VA-ECMO while on the cardiac transplant waitlist, followed by outpatient follow-up after transplantation.
Planned enrollment (registry): Not reported
Enrolled: 1
Randomized: Not reported
Completed follow-up: 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, a mitochondrially-targeted tetrapeptide interacting with cardiolipin · Intravenous, later subcutaneous · Started at three weeks of age and continued through transplantation at five months of age. Continued subcutaneously afterwards as an outpatient. · 1 assigned

What the authors reported

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

Tolerability of elamipretide

unclear outcome · safety · From three weeks of age through transplantation and ongoing outpatient use · Narrative clinical report of side effects

Elamipretide: narrative — Treated without significant side effects; described as well tolerated

Cardiac transplantation and clinical course

unclear outcome · patient-important · Transplantation at five months of age and subsequent outpatient follow-up · Narrative clinical course

Elamipretide: narrative — Underwent successful orthotopic heart transplantation and continues to do well as an outpatient

Explanted heart pathology

unclear outcome · surrogate · At transplantation (five months of age) · Gross, histologic and ultrastructural examination of the explanted heart

Elamipretide: narrative — Dilated, hypertrabeculated left ventricle with endocardial fibroelastosis, sarcoplasmic vacuolization and abnormal mitochondria with megaconia

Adverse events

None reported. That is not evidence of safety.

Monitoring: Not described beyond a statement that no significant side effects occurred.

The authors concluded (paraphrased): The authors describe a Barth syndrome case with a novel TAFAZZIN variant showing dilated cardiomyopathy, hypertrabeculation, endocardial fibroelastosis and marked mitochondrial abnormalities. They state elamipretide was well tolerated.

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 patient with no comparator, so outcomes cannot be attributed to elamipretide.
small or imprecise: Only one infant was treated, so the findings cannot be generalized and give no estimate of adverse event frequency.
confounding: The patient received ECMO and then heart transplantation, which dominate the clinical course and any adverse events.
abstract only: Only the abstract is available. Monitoring methods, the adverse event definitions used and follow-up length are not given.
selective reporting: Tolerability is summarized only as 'without significant side effects', with no listing of the events that were observed.
inappropriate endpoint: Reported findings are explant pathology and a general tolerability statement, not function, exercise capacity or fatigue outcomes.

Tolerability of elamipretide: 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	No comparison group. It is a single-patient case report, so events cannot be compared against untreated patients.
Selection of participants	Serious concern	A single, selected case was reported, likely because of its novel variant and notable pathology.
Confounding	Serious concern	ECMO, critical illness and transplantation with immunosuppression could all cause or mask adverse events.
Follow-up and attrition	Some concern	Treatment ran from three weeks of age through transplantation and beyond, but the total follow-up length is not stated.
Outcome measurement	Not reported	The abstract does not describe how side effects were assessed or defined.
Completeness of reporting	Serious concern	Only a global statement of no significant side effects is given, with no event list.
Precision	Serious concern	A single patient cannot provide any estimate of adverse event risk.
Funding and conflicts of interest	Not reported	Funding and conflicts of interest are not stated in the available record.

Single uncontrolled, heavily confounded case with a narrative tolerability statement only, available as an abstract.

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.

Cardiac transplantation and clinical course: 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	No comparator, so the clinical course cannot be linked to elamipretide treatment.
Selection of participants	Serious concern	Single case selected for publication, which raises the risk of reporting favorable courses.
Confounding	Serious concern	The outcome is driven by ECMO support and heart transplantation rather than by the study drug.
Follow-up and attrition	Some concern	Post-transplant follow-up duration is not given; the patient is described only as doing well.
Outcome measurement	Some concern	'Doing well' is a nonspecific narrative description without defined measures.
Completeness of reporting	Some concern	Narrative only, with no functional or quantitative outcome data in the abstract.
Precision	Serious concern	With only one patient, no precision is possible.
Funding and conflicts of interest	Not reported	Funding and conflicts of interest are not stated in the available record.

Uncontrolled single case dominated by transplantation; the course cannot be attributed to elamipretide.

Explanted heart pathology: 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	No untreated comparison heart is reported, so any drug effect on pathology cannot be judged.
Selection of participants	Serious concern	Single case reported because of a novel variant and notable pathology.
Confounding	Serious concern	Pathology reflects the underlying Barth syndrome and ECMO course, not isolated treatment effects.
Follow-up and attrition	No concern identified	The explanted heart was examined at transplantation, a single defined timepoint.
Outcome measurement	Some concern	Standard gross, histologic and ultrastructural examination is described, but blinding and methods are not reported.
Completeness of reporting	Some concern	Descriptive findings only, available as an abstract.
Precision	Serious concern	Single specimen from one patient, with no quantitative data.
Funding and conflicts of interest	Not reported	Funding and conflicts of interest are not stated in the available record.

Descriptive pathology from one uncontrolled case cannot inform effects of elamipretide.

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: eligible for “Adverse events, including injection-site reactions, and discontinuations”, indirect evidence

Insufficient information to assess Adverse events, including injection-site reactions, and discontinuations

Where each value comes from

adverse_events: PMID 40645388, abstract (Sentences 5 and 11) · extracted by AI (automated, not verified by a person) · abstract only
arms: PMID 40645388, abstract (Sentences 5 and 9) · extracted by AI (automated, not verified by a person) · abstract only
author_conclusion: PMID 40645388, abstract (Summary section, sentences 10-11) · extracted by AI (automated, not verified by a person) · abstract only
design: PMID 40645388, abstract (Case report section, sentence 3; publication type Case Reports) · extracted by AI (automated, not verified by a person) · abstract only
limitations: PMID 40645388, abstract (Whole abstract) · extracted by AI (automated, not verified by a person) · abstract only
outcomes: PMID 40645388, abstract (Sentences 5-9 and 11) · extracted by AI (automated, not verified by a person) · abstract only
participants: PMID 40645388, abstract (Case report section, sentence 3) · extracted by AI (automated, not verified by a person) · abstract only
population: PMID 40645388, abstract (Sentences 3-4) · extracted by AI (automated, not verified by a person) · abstract only
results: PMID 40645388, abstract (Sentences 5-9 and 11) · 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).