Promising Oral Medication Improves Heart and Muscle Symptoms in Barth Syndrome

Researchers at Tohoku University have identified an innovative oral drug, MA-5, showing significant promise in treating the complex symptoms associated with Barth syndrome, a rare genetic disorder affecting approximately 1 in 300,000 individuals worldwide. The condition primarily causes weakened heart function, muscle fatigue, and increased susceptibility to infections, often necessitating heart transplants, with current treatments only managing symptoms without addressing the disease's root cause.

In their comprehensive study published in The FASEB Journal on June 21, 2025, the team led by Professors Takaaki Abe and Takafumi Toyohara explored the effects of MA-5 on cells derived from four Barth syndrome patients and in fruit fly (Drosophila) models of the disease. The findings revealed that MA-5 could boost cellular energy production—ATP synthesis—by up to half and provide protective effects against oxidative stress-induced cell death.

What makes MA-5 particularly exciting is its targeted mechanism against mitochondrial dysfunction, which is fundamental to Barth syndrome pathology. Unlike existing treatments that merely alleviate symptoms, MA-5 enhances the interaction between key mitochondrial proteins, mitofilin and ATP synthase, leading to more efficient energy generation within cells and potentially altering disease progression.

Microscopic examinations demonstrated that MA-5 restores normal mitochondrial structure in muscle tissues, correcting the abnormalities seen in Barth syndrome models. In human muscle cells, the drug reduced stress markers and improved mitochondrial architecture. In Drosophila models, MA-5 significantly improved physical performance and normalized elevated heart rates prevalent in the disease.

Encouragingly, phase I clinical trials conducted in Japan have been successful, and researchers are preparing to advance to phase II trials. The oral administration of MA-5 offers a major advantage, especially for pediatric patients, making treatment easier and more accessible.

This groundbreaking research suggests that MA-5 has the potential to become the first disease-modifying therapy for Barth syndrome, shifting the treatment paradigm from symptom management to addressing the core mitochondrial dysfunction. If further trials confirm these benefits, this drug could significantly improve the quality of life and prognosis for individuals living with this challenging condition.

Source: https://medicalxpress.com/news/2025-07-oral-drug-barth-syndrome-heart.html