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

Ortmann L, Velasco D, Cole J

European heart journal. Case reports22 Jan 2025

PMID39917770PMCIDPMC11799937DOI10.1093/ehjcr/ytaf030PepBankPUB-39917770

Summary

BackgroundBarth syndrome (BTHS) is a rare genetic disease, with no approved curative therapies, characterized by abnormally developed cardiolipin, resulting in mitochondrial dysfunction. Cardiomyopathy, a common clinical manifestation of BTHS, often appears in infancy. Elamipretide, an investigational drug that binds to cardiolipin on the inner mitochondrial membrane, leads to improved membrane stability, enhanced adenosine triphosphate production, and reduced reactive oxygen species. This patient case aims to further support elamipretide's role in treating BTHS infants.Case summaryWe present an infant diagnosed in utero with BTHS who demonstrated a moderately dilated left ventricle (LV) with an LV ejection fraction (LVEF) of 20% at birth. He was transferred to a tertiary children's hospital where he was intubated and administered medications for haemodynamic support. After several weeks, the patient was extubated and his LVEF improved, although still below normal. On day of life (DOL) 34, therapy with daily IV elamipretide (0.25 mg/kg increased to 0.5 mg/kg on DOL39) began, followed by standard-of-care oral heart failure medications. Subsequent echocardiograms demonstrated improvement of LVEF to near-normal levels. He was weaned off oxygen completely on DOL49 and discharged home on DOL61 on daily subcutaneous elamipretide 0.5 mg/kg and oral heart failure medications. His most recent echocardiogram showed improvement of LVEF to 60%.DiscussionOur case suggests that elamipretide may have contributed to the improvement of LV function in this BTHS infant, supporting elamipretide's early use in BTHS. Our findings align with the previous studies in which elamipretide treatment demonstrated normalization of mitochondrial function and improvement in LV function.

CC BYText from Europe PMC. Highlighted sentences are the source of results.

Results from this study3

3 results from studies that gave the peptide. 3 results from people.

01HumanCase report or seriesEfficacy outcome
In an infant with Barth syndrome and LVEF of 20% at birth, echocardiograms after starting elamipretide showed improvement of LVEF to near-normal levels.
In plain wordsIn one infant with Barth syndrome, heart pumping function rose to near normal after elamipretide; a single case cannot show cause.
Peptide
Elamipretide (SS-31)
Outcome
IncreaseLVEF improvement to near-normal levels
Study
n = 1
Outcome group
Heart function · Cardiovascular
Studied dose
0.25 mg/kg daily, increased to 0.5 mg/kg on DOL39 · intravenous, then subcutaneousAs given in this study (human).
Source sentences
Summary
Subsequent echocardiograms demonstrated improvement of LVEF to near-normal levels.
2 context sentences(design, population, supporting numbers)
Summary · context
We present an infant diagnosed in utero with BTHS who demonstrated a moderately dilated left ventricle (LV) with an LV ejection fraction (LVEF) of 20% at birth.
Summary · context
On day of life (DOL) 34, therapy with daily IV elamipretide (0.25 mg/kg increased to 0.5 mg/kg on DOL39) began, followed by standard-of-care oral heart failure medications.
Show in the study text Report a problemFND-3991777001
02HumanCase report or seriesEfficacy outcome
In an infant with Barth syndrome, the most recent echocardiogram after elamipretide showed LVEF of 60%.
In plain wordsIn one infant with Barth syndrome, heart pumping function reached 60% after elamipretide; a single case cannot show cause.
Peptide
Elamipretide (SS-31)
Outcome
IncreaseMost recent LVEF
Study
n = 1
Outcome group
Heart function · Cardiovascular
Studied dose
0.25 mg/kg daily, increased to 0.5 mg/kg on DOL39 · intravenous, then subcutaneousAs given in this study (human).
Measurements
LVEF
60%
most recent echocardiogram
Source sentences
Summary
His most recent echocardiogram showed improvement of LVEF to 60%.
2 context sentences(design, population, supporting numbers)
Summary · context
We present an infant diagnosed in utero with BTHS who demonstrated a moderately dilated left ventricle (LV) with an LV ejection fraction (LVEF) of 20% at birth.
Summary · context
On day of life (DOL) 34, therapy with daily IV elamipretide (0.25 mg/kg increased to 0.5 mg/kg on DOL39) began, followed by standard-of-care oral heart failure medications.
Show in the study text Report a problemFND-3991777002
03HumanCase report or seriesEfficacy outcome
In an infant with Barth syndrome, the patient was weaned off oxygen completely on day of life 49 after elamipretide began on day 34.
In plain wordsIn one infant with Barth syndrome, oxygen support was stopped after elamipretide started; a single case cannot show cause.
Peptide
Elamipretide (SS-31)
Outcome
DecreaseOxygen weaning
Study
n = 1
Outcome group
Respiratory function · Respiratory
Studied dose
0.25 mg/kg daily, increased to 0.5 mg/kg on DOL39 · intravenous, then subcutaneousAs given in this study (human).
Source sentences
Summary
He was weaned off oxygen completely on DOL49
2 context sentences(design, population, supporting numbers)
Summary · context
We present an infant diagnosed in utero with BTHS who demonstrated a moderately dilated left ventricle (LV) with an LV ejection fraction (LVEF) of 20% at birth.
Summary · context
On day of life (DOL) 34, therapy with daily IV elamipretide (0.25 mg/kg increased to 0.5 mg/kg on DOL39) began, followed by standard-of-care oral heart failure medications.
Show in the study text Report a problemFND-3991777003

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Version history

PepBank keeps every version of the data on this study. Status changes from Retraction Watch, Europe PMC and Crossref are listed with their source.

Version 2Current
10 Oct 2026, 08:19 UTC
Study results updated
Version 1
9 Oct 2026, 02:47 UTC
First added · source update from Europe PMC

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