What this means
Doctors treated one 5-year-old boy with elamipretide, and his heart and daily life improved over six months. This is one case, so it cannot show the drug works for other children.
Plain-English summary written by an AI model from the abstract. The original is below.
- Who it was tested in
- 1 child aged 5 (one case report)
- Kind of research
- A study
The science
- Original title
- Elamipretide in pediatric Barth syndrome: from heart failure to school return.
- Authors
- Amedro P, Andrianoely M, Gohier P et al.
- Journal
- Orphanet journal of rare diseases
- Published
- Jul 7, 2026
- Study type
- Study · in humans
- PMID
- 42415111 ↗
Abstract
Background
Barth 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.
What they found
This 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.
Other details
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). 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.
The authors' abstract, grouped under plain headings from its own section labels.
Amedro P, Andrianoely M, Gohier P et al. Elamipretide in pediatric Barth syndrome: from heart failure to school return. Orphanet journal of rare diseases. 2026. doi:10.1186/s13023-026-04487-z. PMID: 42415111. https://pubmed.ncbi.nlm.nih.gov/42415111/
Related research
The Role of Oxidative Stress in Heart Failure: Mechanisms and Therapeutic Targets.
Heart failure is characterised by increased production of reactive oxygen species (ROS), which contribute to apoptotic signalling.
A peptide eased signs of aging in heart cells damaged by a cancer drug
Researchers treated heart muscle cells in a dish with a cancer drug, then a peptide called SS-31. The peptide reduced several signs of aging, but not cell cycle arrest. This was done only in lab cells, so it does not show the peptide would help people.
Two drugs together eased stroke brain damage in mice
Researchers gave mice two compounds, alone and together, after a stroke-like injury to the brain. The mice given both had less brain damage and better nerve function than those given either one alone.
Peptide SS-31 eased radiation-caused aging signs in heart cells
Researchers exposed heart cells to radiation and gave some of them SS-31. SS-31 reduced several aging signs, but this was only tested in cells, not people.
Targeting Mitochondria for Postoperative Cognitive Dysfunction: From Mechanisms to Therapeutics.
Postoperative cognitive dysfunction (POCD) is a frequent neurological complication in older surgical patients, leading to substantial declines in quality of life and placing a considerable burden on society.
Two mitochondria-targeted drugs studied in aged female mice with fatty liver disease
Researchers gave two drugs to older mice with fatty liver disease caused by a rich diet. Both drugs improved liver markers in the mice, but this does not show they would help people.
See all research on Elamipretide (SS-31) →