Current and future treatment approaches for Barth syndrome

Reid Thompson, John Jefferies, Suya Wang, William T. Pu, Clifford Takemoto, Brittany Hornby, Andrea Heyman, Michael T. Chin, Hilary J. Vernon

Research output: Contribution to journalReview articlepeer-review


Barth Syndrome is an X-linked disorder of mitochondrial cardiolipin metabolism caused by pathogenic variants in TAFAZZIN with pleiotropic effects including cardiomyopathy, neutropenia, growth delay, and skeletal myopathy. Management requires a multidisciplinary approach to the organ-specific manifestations including specialists from cardiology, hematology, nutrition, physical therapy, genetics, and metabolism. Currently, treatment is centered on management of specific clinical features, and is not targeted toward remediating the underlying biochemical defect. However, two clinical trials have been recently undertaken which target the mitochondrial pathology of this disease: a study to examine the effects of elamipretide, a cardiolipin targeted agent, and a study to examine the effects of bezafibrate, a peroxisome proliferator-activated receptor (PPAR) agonist. Treatments to directly target the defective TAFAZZIN pathway are under development, including enzyme and gene therapies.

Original languageEnglish (US)
Pages (from-to)17-28
Number of pages12
JournalJournal of Inherited Metabolic Disease
Issue number1
StatePublished - Jan 2022

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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