Elamipretide in pediatric Barth syndrome: from heart failure to school return.

Amedro P, Andrianoely M, Gohier P, Leroux J, Aladjidi N, Lagorce S, Daccord M, Audie M, Botte A, Nubret K, Richard P, Roche S and 7 more

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Lamireau D, Tetard C, Trimouille A, Desir A, Mesli S, Donadieu J, Gotchac J

Orphanet journal of rare diseases7 Jul 2026

PMID42415111PMCIDPMC13637224DOI10.1186/s13023-026-04487-zPepBankPUB-42415111

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Summary

BackgroundBarth syndrome (BTHS) is a rare X-linked mitochondrial disorder characterized by cardiomyopathy, neutropenia, and skeletal myopathy. Elamipretide is a mitochondria-targeting peptide that stabilizes cardiolipin and improves mitochondrial function. While use of this treatment in infants with BTHS has been reported in the United States, no cases have been described outside the US or in older children.Case presentationWe report the first case of a preschool-aged child with genetically confirmed BTHS and advanced heart failure, who was treated with elamipretide under a compassionate use program approved by the French Drug Administration (ANSM). At treatment initiation, this 5-year-old patient presented with severe left ventricular dysfunction (LVEF = 20%) and moderate-to-severe mitral regurgitation. He was dependent on gastrostomy feeding and had been listed for heart transplantation. Subcutaneous elamipretide (10 mg/day) was initiated alongside maximal conventional heart failure therapy. Over six months, LVEF improved to 50%, mitral regurgitation decreased to mild, Ross class improved from IV to I, and substantial gains were observed in functional capacity, nutritional status, and health-related quality of life (HRQoL). The patient returned to full-time school and remained temporarily suspended from the transplant list. Treatment was generally well tolerated. One transient, non-serious episode of abdominal pain with moderate pancreatic enzyme elevation occurred, which resolved without treatment discontinuation.ConclusionsThis case suggests that elamipretide may improve cardiac function, exercise tolerance, nutrition, and HRQoL in preschool-aged pediatric BTHS patients, potentially delaying the need for transplantation. Broader pediatric evaluation is warranted. Further strategies, such as youth-tailored hybrid cardiac rehabilitation programs, could complement pharmacological therapy and further optimize outcomes in this population.

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

Results from this study10

10 results from studies that gave the peptide. 10 results from people.

01HumanCase report or seriesEfficacy outcome
In a 5-year-old child with Barth syndrome and advanced heart failure, left ventricular ejection fraction improved from 20% to 50% over six months of elamipretide.
In plain wordsIn one child with Barth syndrome, heart pumping strength improved over six months on elamipretide, given with standard heart failure care.
Peptide
Elamipretide (SS-31)
Outcome
IncreaseLeft ventricular ejection fraction
Study
n = 1
Outcome group
Heart function · Cardiovascular
Studied dose
10 mg/day · subcutaneous · 6 monthsAs given in this study (human).
Measurements
LVEF
50%
after six months
LVEF
20%
at treatment start
Source sentences
Summary
Over six months, LVEF improved to 50%, mitral regurgitation decreased to mild, Ross class improved from IV to I, and substantial gains were observed in functional capacity, nutritional status, and health-related quality of life (HRQoL).
3 context sentences(design, population, supporting numbers)
Summary · context
At treatment initiation, this 5-year-old patient presented with severe left ventricular dysfunction (LVEF = 20%) and moderate-to-severe mitral regurgitation.
Summary · context
We report the first case of a preschool-aged child with genetically confirmed BTHS and advanced heart failure, who was treated with elamipretide under a compassionate use program approved by the French Drug Administration (ANSM).
Summary · context
Subcutaneous elamipretide (10 mg/day) was initiated alongside maximal conventional heart failure therapy.
Show in the study text Report a problemFND-4241511101
02HumanCase report or seriesEfficacy outcome
In a child with Barth syndrome, mitral regurgitation decreased to mild over six months of elamipretide.
In plain wordsIn one child with Barth syndrome, a leaky heart valve became mild over six months on elamipretide plus standard care.
Peptide
Elamipretide (SS-31)
Outcome
DecreaseMitral regurgitation
Study
n = 1
Outcome group
Heart function · Cardiovascular
Studied dose
10 mg/day · subcutaneous · 6 monthsAs given in this study (human).
Source sentences
Summary
Over six months, LVEF improved to 50%, mitral regurgitation decreased to mild, Ross class improved from IV to I, and substantial gains were observed in functional capacity, nutritional status, and health-related quality of life (HRQoL).
3 context sentences(design, population, supporting numbers)
Summary · context
We report the first case of a preschool-aged child with genetically confirmed BTHS and advanced heart failure, who was treated with elamipretide under a compassionate use program approved by the French Drug Administration (ANSM).
Summary · context
At treatment initiation, this 5-year-old patient presented with severe left ventricular dysfunction (LVEF = 20%) and moderate-to-severe mitral regurgitation.
Summary · context
Subcutaneous elamipretide (10 mg/day) was initiated alongside maximal conventional heart failure therapy.
Show in the study text Report a problemFND-4241511102
03HumanCase report or seriesEfficacy outcome
In a child with Barth syndrome, Ross class improved from IV to I over six months of elamipretide.
In plain wordsIn one child with Barth syndrome, the heart failure severity class improved from the worst to the mildest over six months.
Peptide
Elamipretide (SS-31)
Outcome
DecreaseRoss class
Study
n = 1
Outcome group
Heart function · Cardiovascular
Studied dose
10 mg/day · subcutaneous · 6 monthsAs given in this study (human).
Source sentences
Summary
Over six months, LVEF improved to 50%, mitral regurgitation decreased to mild, Ross class improved from IV to I, and substantial gains were observed in functional capacity, nutritional status, and health-related quality of life (HRQoL).
3 context sentences(design, population, supporting numbers)
Summary · context
We report the first case of a preschool-aged child with genetically confirmed BTHS and advanced heart failure, who was treated with elamipretide under a compassionate use program approved by the French Drug Administration (ANSM).
Summary · context
At treatment initiation, this 5-year-old patient presented with severe left ventricular dysfunction (LVEF = 20%) and moderate-to-severe mitral regurgitation.
Summary · context
Subcutaneous elamipretide (10 mg/day) was initiated alongside maximal conventional heart failure therapy.
Show in the study text Report a problemFND-4241511103
04HumanCase report or seriesEfficacy outcome
In a child with Barth syndrome, functional capacity showed substantial gains over six months of elamipretide.
In plain wordsIn one child with Barth syndrome, physical ability clearly improved over six months on elamipretide plus standard care.
Peptide
Elamipretide (SS-31)
Outcome
IncreaseFunctional capacity
Study
n = 1
Outcome group
Exercise and physical function · Whole body
Studied dose
10 mg/day · subcutaneous · 6 monthsAs given in this study (human).
Source sentences
Summary
Over six months, LVEF improved to 50%, mitral regurgitation decreased to mild, Ross class improved from IV to I, and substantial gains were observed in functional capacity, nutritional status, and health-related quality of life (HRQoL).
3 context sentences(design, population, supporting numbers)
Summary · context
We report the first case of a preschool-aged child with genetically confirmed BTHS and advanced heart failure, who was treated with elamipretide under a compassionate use program approved by the French Drug Administration (ANSM).
Summary · context
At treatment initiation, this 5-year-old patient presented with severe left ventricular dysfunction (LVEF = 20%) and moderate-to-severe mitral regurgitation.
Summary · context
Subcutaneous elamipretide (10 mg/day) was initiated alongside maximal conventional heart failure therapy.
Show in the study text Report a problemFND-4241511104
05HumanCase report or seriesEfficacy outcome
In a child with Barth syndrome, nutritional status showed substantial gains over six months of elamipretide.
In plain wordsIn one child with Barth syndrome, nutrition clearly improved over six months on elamipretide plus standard care.
Peptide
Elamipretide (SS-31)
Outcome
IncreaseNutritional status
Study
n = 1
Outcome group
Body composition · Metabolic and weight
Studied dose
10 mg/day · subcutaneous · 6 monthsAs given in this study (human).
Source sentences
Summary
Over six months, LVEF improved to 50%, mitral regurgitation decreased to mild, Ross class improved from IV to I, and substantial gains were observed in functional capacity, nutritional status, and health-related quality of life (HRQoL).
3 context sentences(design, population, supporting numbers)
Summary · context
We report the first case of a preschool-aged child with genetically confirmed BTHS and advanced heart failure, who was treated with elamipretide under a compassionate use program approved by the French Drug Administration (ANSM).
Summary · context
At treatment initiation, this 5-year-old patient presented with severe left ventricular dysfunction (LVEF = 20%) and moderate-to-severe mitral regurgitation.
Summary · context
Subcutaneous elamipretide (10 mg/day) was initiated alongside maximal conventional heart failure therapy.
Show in the study text Report a problemFND-4241511105
06HumanCase report or seriesEfficacy outcome
In a child with Barth syndrome, health-related quality of life showed substantial gains over six months of elamipretide.
In plain wordsIn one child with Barth syndrome, quality of life clearly improved over six months on elamipretide plus standard care.
Peptide
Elamipretide (SS-31)
Outcome
IncreaseHealth-related quality of life
Study
n = 1
Outcome group
Quality of life · Whole body
Studied dose
10 mg/day · subcutaneous · 6 monthsAs given in this study (human).
Source sentences
Summary
Over six months, LVEF improved to 50%, mitral regurgitation decreased to mild, Ross class improved from IV to I, and substantial gains were observed in functional capacity, nutritional status, and health-related quality of life (HRQoL).
3 context sentences(design, population, supporting numbers)
Summary · context
We report the first case of a preschool-aged child with genetically confirmed BTHS and advanced heart failure, who was treated with elamipretide under a compassionate use program approved by the French Drug Administration (ANSM).
Summary · context
At treatment initiation, this 5-year-old patient presented with severe left ventricular dysfunction (LVEF = 20%) and moderate-to-severe mitral regurgitation.
Summary · context
Subcutaneous elamipretide (10 mg/day) was initiated alongside maximal conventional heart failure therapy.
Show in the study text Report a problemFND-4241511106
07HumanCase report or seriesEfficacy outcome
The child with Barth syndrome returned to full-time school during elamipretide treatment.
In plain wordsOne child with Barth syndrome returned to full-time school while on elamipretide plus standard care.
Peptide
Elamipretide (SS-31)
Outcome
IncreaseSchool attendance
Study
n = 1
Outcome group
Quality of life · Whole body
Studied dose
10 mg/day · subcutaneous · 6 monthsAs given in this study (human).
Source sentences
Summary
The patient returned to full-time school
3 context sentences(design, population, supporting numbers)
Summary · context
We report the first case of a preschool-aged child with genetically confirmed BTHS and advanced heart failure, who was treated with elamipretide under a compassionate use program approved by the French Drug Administration (ANSM).
Summary · context
At treatment initiation, this 5-year-old patient presented with severe left ventricular dysfunction (LVEF = 20%) and moderate-to-severe mitral regurgitation.
Summary · context
Subcutaneous elamipretide (10 mg/day) was initiated alongside maximal conventional heart failure therapy.
Show in the study text Report a problemFND-4241511107
08HumanCase report or seriesEfficacy outcome
The child with Barth syndrome remained temporarily suspended from the heart transplant list during elamipretide treatment.
In plain wordsOne child with Barth syndrome stayed temporarily off the heart transplant list while on elamipretide plus standard care.
Peptide
Elamipretide (SS-31)
Outcome
Not applicableHeart transplant listing
Study
n = 1
Outcome group
Cardiovascular events · Cardiovascular
Studied dose
10 mg/day · subcutaneous · 6 monthsAs given in this study (human).
Source sentences
Summary
remained temporarily suspended from the transplant list.
3 context sentences(design, population, supporting numbers)
Summary · context
We report the first case of a preschool-aged child with genetically confirmed BTHS and advanced heart failure, who was treated with elamipretide under a compassionate use program approved by the French Drug Administration (ANSM).
Summary · context
At treatment initiation, this 5-year-old patient presented with severe left ventricular dysfunction (LVEF = 20%) and moderate-to-severe mitral regurgitation.
Summary · context
Subcutaneous elamipretide (10 mg/day) was initiated alongside maximal conventional heart failure therapy.
Show in the study text Report a problemFND-4241511108
09HumanCase report or seriesSafety outcome
Elamipretide treatment was generally well tolerated in a child with Barth syndrome.
In plain wordsIn one child with Barth syndrome, elamipretide was generally well tolerated.
Peptide
Elamipretide (SS-31)
Outcome
No significant changeTolerability
Study
n = 1
Outcome group
Adverse events · Whole body
Studied dose
10 mg/day · subcutaneous · 6 monthsAs given in this study (human).
Source sentences
Summary
Treatment was generally well tolerated.
3 context sentences(design, population, supporting numbers)
Summary · context
We report the first case of a preschool-aged child with genetically confirmed BTHS and advanced heart failure, who was treated with elamipretide under a compassionate use program approved by the French Drug Administration (ANSM).
Summary · context
At treatment initiation, this 5-year-old patient presented with severe left ventricular dysfunction (LVEF = 20%) and moderate-to-severe mitral regurgitation.
Summary · context
Subcutaneous elamipretide (10 mg/day) was initiated alongside maximal conventional heart failure therapy.
Show in the study text Report a problemFND-4241511109
10HumanCase report or seriesSafety outcome
One transient, non-serious episode of abdominal pain with moderate pancreatic enzyme elevation occurred and resolved without treatment discontinuation.
In plain wordsOne child on elamipretide had one short, non-serious episode of belly pain with raised pancreatic enzymes, which resolved while treatment continued.
Peptide
Elamipretide (SS-31)
Outcome
Not applicableAbdominal pain with pancreatic enzyme elevation
Study
n = 1
Outcome group
Adverse events · Gastrointestinal
Studied dose
10 mg/day · subcutaneous · 6 monthsAs given in this study (human).
Source sentences
Summary
One transient, non-serious episode of abdominal pain with moderate pancreatic enzyme elevation occurred, which resolved without treatment discontinuation.
3 context sentences(design, population, supporting numbers)
Summary · context
We report the first case of a preschool-aged child with genetically confirmed BTHS and advanced heart failure, who was treated with elamipretide under a compassionate use program approved by the French Drug Administration (ANSM).
Summary · context
At treatment initiation, this 5-year-old patient presented with severe left ventricular dysfunction (LVEF = 20%) and moderate-to-severe mitral regurgitation.
Summary · context
Subcutaneous elamipretide (10 mg/day) was initiated alongside maximal conventional heart failure therapy.
Show in the study text Report a problemFND-4241511110

AI wrote and checked these results. AI can make mistakes, so check important results against the source.

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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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