cardiolipin Archives

Barth syndrome: A potential treatment for a rare disease

Written by

Symptoms of Barth syndrome include weakening of the skeletal muscles and the heart.

Barth syndrome is a rare disorder in males caused by a variant of the gene TAFAZZIN. It affects the metabolism of the fat molecule cardiolipin in mitochondria, resulting in the dysfunction of skeletal muscle and the heart. The syndrome doesn’t have a specific therapy, so patients who suffer from it have health problems their entire lives and are more likely […]

The heart of the matter: Elamipretide in the treatment of Barth syndrome

Written by

Dr Hani Sabbah has spent a decade researching the potential of elamipretide as a therapy for the Barth syndrome.

Barth syndrome (BTHS) is an ultra-rare but debilitating genetic disease affecting cell mitochondria. High infant mortality due to cardiac complications and a weakened immune system significantly decrease life expectancy. Current medications treat symptoms but not the cause, leaving an unmet clinical need to develop effective treatments that target the underlying pathology. Dr Hani N Sabbah, Professor of Medicine at Wayne […]