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Elamipretide in pediatric Barth syndrome: from heart failure to school return
Pascal Amedro1,2, Mathieu Andrianoely3,4,5, Pauline Gohier6
1Department of Pediatric and Congenital Cardiology, CRMR-M3C, National Reference Center for Complex Congenital Heart Disease, Bordeaux University Hospital, IHU Liryc, INSERM U1045, University of Bordeaux, Bordeaux, France. pascal.amedro@gmail.com.
Insights
Elamipretide shows promise in treating Barth syndrome (BTHS), a rare mitochondrial disorder. This study details its positive effects on a preschool-aged child
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Barth syndrome (BTHS) is a rare X-linked mitochondrial disorder impacting cardiac and skeletal muscle, often leading to severe heart failure.
- Elamipretide is a novel mitochondria-targeting peptide designed to stabilize cardiolipin and enhance mitochondrial function.
- Previous elamipretide use in BTHS was documented in infants in the US; this case explores its efficacy in an older child outside the US.
Purpose of the Study:
- To evaluate the efficacy and safety of elamipretide in a preschool-aged child with genetically confirmed Barth syndrome and advanced heart failure.
- To assess the impact of elamipretide on cardiac function, exercise capacity, nutritional status, and quality of life in a pediatric BTHS patient.
Main Methods:
- A 5-year-old patient with confirmed BTHS and severe left ventricular dysfunction (LVEF 20%) was treated with elamipretide (10 mg/day) via compassionate use.
- Treatment was initiated alongside maximal heart failure therapy, including gastrostomy feeding and being listed for heart transplantation.
- Cardiac function, functional capacity, nutritional status, and quality of life were monitored over a six-month period.
Main Results:
- Elamipretide treatment led to significant improvement in left ventricular ejection fraction (LVEF) from 20% to 50% over six months.
- Mitral regurgitation decreased from moderate-to-severe to mild, and the patient's Ross class improved from IV to I.
- The patient demonstrated substantial gains in functional capacity, nutritional status, and health-related quality of life, returning to school and temporarily suspended from the transplant list.
Conclusions:
- Elamipretide demonstrated potential to improve cardiac function, exercise tolerance, nutrition, and quality of life in a preschool-aged pediatric BTHS patient.
- This case suggests elamipretide may be a viable therapeutic option for pediatric BTHS, potentially delaying the need for heart transplantation.
- Further pediatric studies and complementary strategies like cardiac rehabilitation are warranted to optimize outcomes for BTHS patients.
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.
Case Presentation:
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.
Conclusions:
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.
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