RARE Daily

American Heart Association and Barth Syndrome Foundation Partner to Address Rare Disease

August 25, 2020

Rare Daily Staff

The Barth Syndrome Foundation and the American Heart Association said they have formed a partnership to advance research studying cardiac complications associated with Barth syndrome, a rare, life-threatening, mitochondrial disease.

The two organizations have created a fellowship that provides a research opportunity for an investigator to explore the underlying pathology of the cardiac abnormalities present in Barth syndrome and other diseases. They will also work to address a severe shortage of early-career researchers by incentivizing a focus on the rare indication.

Barth syndrome is a rare, X-linked, inborn error of metabolism characterized by cardiomyopathy, cardiolipin deficiency, musculoskeletal weakness, neutropenia, debilitating fatigue, growth delay, and hypoglycemia, among other clinical manifestations. The disease most commonly affects boys. More than 70 percent of Barth syndrome patients present with cardiac complications.

The collaboration marks a strategic shift by the Barth Syndrome Foundation to broaden its impact by joining forces to accelerate progress through science and education.

Although Barth syndrome is an ultra-rare disease affecting around 250 known, living individuals worldwide, its multi-system and organ manifestations share many symptoms with other diseases and conditions. This partnership represents an expansion of BSF’s portfolio targeting one organ system, with additional strategic partnerships with neuromuscular, metabolic, and immunocompromised disease groups anticipated in the near future.

“Supporting young promising researchers is an investment in both our research challenges now and scientific needs for the future. In partnering with the AHA, BSF is embarking on a model of engaging fellow philanthropic and institutional partners to address common scientific and clinical challenges that ultimately benefit all of our patient communities,” says Barth Syndrome Foundation Director of Research Erik Lontok. “Collaboration is a central tenet of our research program, and our effort with AHA serves as a template and an opportunity to mutually advance common research and clinical challenges with diseases that share a phenotypic overlap with Barth syndrome.”


Photo: Erik Lontok, Barth Syndrome Foundation director of research

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