Report from the 2026 Barth Syndrome Foundation International Scientific, Medical & Family Conference: Advances in Barth Syndrome Research, Therapy Development, and Clinical Care

Abstract

The 2026 Barth Syndrome International Scientific, Medical & Family Conference was held at the Hyatt Regency Coconut Point, Bonita Springs, Florida, USA, from 19th to 25th July 2026 with scientific programming beginning 22nd July. This biennial event assembled researchers, clinicians, and affected community members for its first gathering since the U.S. FDA granted accelerated approval to elamipretide (Forzinity™; Mighty Therapeutics), the first therapy for Barth syndrome and first ever mitochondrially targeted therapy, in September 2025. Scientific sessions addressed: (1) emerging cardiolipin biology; (2) convergent identification of ABHD18 as a therapeutic target for correction of the cardiolipin phenotype; (3) advancing therapeutic strategies including AAV gene therapy, enzyme replacement therapy, and ABHD18 inhibition; (4) the elamipretide post-approval program, including the SPIBA-401 confirmatory trial; (5) natural history characterization covering infant outcomes, extra-cardiac manifestations, diaphragm weakness, neutropenia, and amino acid metabolism; (6) regulatory and drug development strategies in ultra-rare indications; and (7) international Centers of Expertise models and the launch of the BarthINSIGHTS registry. This report summarizes the key scientific advances, discussions, and future priorities as they relate to Barth syndrome biology, therapeutic development, and clinical care.

The authors' abstract, as published at the source. Journal of Developmental Biology, 2026 · DOI ↗