Background: Barth syndrome is a rare, life-threatening, X-linked recessive genetic disease
that predominantly affects young males and is caused by abnormal mitochondrial lipid …

Abstract Background The PGC-1α/PPAR axis has been proposed as a potential therapeutic
target for several metabolic disorders. The aim was to evaluate the efficacy of the pan-PPAR …

Barth Syndrome is an X‐linked disorder of mitochondrial cardiolipin metabolism caused by
pathogenic variants in TAFAZZIN with pleiotropic effects including cardiomyopathy …

Barth syndrome is a rare X-linked genetic disease classically characterized by
cardiomyopathy, skeletal myopathy, growth retardation, neutropenia, and 3 …

Purpose To evaluate effectiveness of elamipretide in Barth syndrome (BTHS), a genetic
condition of defects in TAZ, which causes abnormal cardiolipin on the inner mitochondrial …

Purpose Evaluate long-term efficacy and safety of elamipretide during the open-label
extension (OLE) of the TAZPOWER trial in individuals with Barth syndrome (BTHS). Methods …

Barth Syndrome is a rare X‐linked disorder caused by pathogenic variants in the gene
TAFAZZIN, which encodes for an enzyme involved in the remodeling of cardiolipin, a …

Barth syndrome (BTHS) is a rare, X-linked recessive, infantile-onset debilitating disorder
characterized by early-onset cardiomyopathy, skeletal muscle myopathy, growth delay, and …

Pediatric heart failure remains poorly understood, distinct in many aspects from adult heart
failure. Limited data point to roles of altered mitochondrial functioning and, in particular …

Background Natural history studies are increasingly recognized as having an important role
in drug development for rare diseases. A phase 3, observational, retrospective, and non …