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Expanded-access use of elamipretide in a newborn with Barth syndrome: a case report
Laura Ortmann1, Danita Velasco1, Jason Cole1
1Department of Pediatrics, University of Nebraska Medical Center, Children's Nebraska, 8200 Dodge St, Omaha, NE 68114, USA.
Insights
Elamipretide shows promise in treating Barth syndrome (BTHS), a rare genetic disorder affecting mitochondrial function. This case study highlights its potential to improve cardiac function in infants with BTHS.
Area of Science:
- Mitochondrial Medicine
- Genetics
- Cardiology
Background:
- Barth syndrome (BTHS) is a rare genetic disorder causing mitochondrial dysfunction due to abnormal cardiolipin.
- Cardiomyopathy is a frequent and serious manifestation of BTHS, often presenting in infancy.
- Elamipretide is an investigational drug targeting cardiolipin to improve mitochondrial stability and function.
Background:
Barth 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 Summary:
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. 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%.
Discussion:
Our 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.
