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Research Summaries

Research Summaries for the Barth syndrome Community

Click below to view summaries of recent research in Barth syndrome

Gene therapy and the role of exercise

How loss of TAFAZZIN function ignites mitochondrial dysfunction

Cell stress response impacts energy use in the heart

Evaluation of Barth syndrome manifestations in female carrier mice

Impact of raising children with Barth syndrome on parental health-related quality of life and family functioning

Development of a phone application for assessing fatigue events in rare disorders: a feasibility and validity study

What is the Difference Between Preprint vs Peer Review

Long-term efficacy and safety of elamipretide in patients with Barth syndrome: 168-week open-label extension results of TAZPOWER

The diagnostic odyssey, clinical burden, and natural history of Barth syndrome: an analysis of patient registry data 

Thrombotic microangiopathy following systemic AAV administration is dependent on anti-capsid antibodies

Mouse models for Barth syndrome: A Barth Syndrome Patient-Derived D75H Point Mutation in TAFAZZIN Drives Progressive Cardiomyopathy in Mice; The Loss of Tafazzin Transacetylase Activity Is Sufficient to Drive Testicular Infertility

Mitochondria-Homing Drug Mitochonic Acid 5 Improves Barth Syndrome Myopathy in a Human-Induced Pluripotent Stem Cell Model and Barth Syndrome Drosophila Model 

Cell-Penetrating Peptide Enhances Tafazzin Gene Therapy in Mouse Model of Barth Syndrome

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