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Characterization of the ‘metabolic phenotype’ in Barth syndrome with cardiac transplantation

A Barth Syndrome Foundation funded research study is examining nutrient (e.g. sugar, fat, protein) metabolism and function of heart and skeletal muscle in boys and young men with Barth syndrome (aged 8-36 years old) who had a heart transplant. Volunteers need to be at least 1 year post-transplant at minimum and must be stable on heart medications to be considered eligible. Volunteers who live overseas are also eligible.

Study procedures include: 2 metabolic studies that involve rest and exercise, a bike exercise test, heart scan, body composition analysis and magnetic resonance imaging (MRI) of the heart and skeletal muscle. Eligible participants will travel to St. Louis, Missouri, USA for a 2.5 day study at Washington University School of Medicine. Travel and accommodations to and from St. Louis, Missouri, USA will be provided for the participant and one parent.

A modest compensation for the participant’s time and effort will also be provided. If interested, please contact the study coordinator, Kay Bohnert, MS, at 1-314-362-2407 or; or the Principal Investigator, Todd Cade, PT, PhD at 1-314-286-1432 or"> for more information.

Listen to Dr. Cade's webinar about this study.

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