The only organization dedicated to saving lives around the world through education, advances in treatments, and finding a cure for Barth syndrome: a life-threatening genetic, multi-system …

Barth syndrome (BTHS; OMIM #302060) is a serious X-linked genetic disorder, primarily affecting males. It is caused by a mutation in the tafazzin gene (TAZ, also called G4.5), resulting in an …

About the Barth Syndrome Foundation (BSF) We are the only world-wide volunteer organization dedicated to saving lives through education, advances in treatment, and finding a cure for …

Heat intolerance or oversensitivity to extreme ambient temperature is common in those with mitochondrial disorders, such as Barth syndrome. Learn more about these risks and …

Oct 10, 2024 · Barth syndrome is an ultra-rare, life-threatening genetic disorder primarily affecting males. There are no FDA-approved treatments and no other therapies in late-stage clinical …

As Barth syndrome science has matured, so too has our approach. Announced in 2021, our new Strategic Plan includes an expansion of Research alongside Development efforts to get to …

We are a world leading source of support for research into the fundamental understanding of Barth syndrome (BTHS), diagnosis and treatments. If you are considering a diagnosis of Barth …

The inheritance of Barth syndrome follows an “X-linked” (or “sex-linked”) recessive pattern in which females can be carriers of a TAZ mutation but only males will have the disease. …

5 days ago · What we do have is advice, experience and perspective from experts as well as statistics, and all that makes us cautiously optimistic about this NDA for the use of elamipretide …

There is a huge spectrum of family planning options open to carriers of a Barth syndrome gene variant (TAZ) who are at risk of passing that mutation on to their children. There is no right or …