Heart and Muscle Metabolism in Barth Syndrome

Completed

Conditions studied: Barth Syndrome

In brief

Barth syndrome (BTHS) is an X-linked disorder caused by abnormal cardiolipin metabolism and is characterized by skeletal and cardiomyopathy and high mortality rates. Through clinical metabolism and imaging studies and pluripotent stem cell induction and molecular techniques on skin biopsy samples, this project will produce novel translational information regarding the pathogenesis of BTHS, reveal potential targets for interventions and provide unique data regarding nutrient metabolism and abnormal cardiolipin and mitochondrial function. This project has the potential to provide information that could significantly improve morbidity and mortality in children and young adults with BTHS and may have relevance to other non-BTHS related conditions such as aging and adult heart failure.

Key facts

Study ID

NCT01625663

Run by

Duke University

People needed

64

Starts

2012-06-01

Expected to finish

2020-03-31

Last updated by the study team

2020-06-02

Who can join

Age: 8 and older, up to 35. Sex: male. Healthy volunteers: accepted.

You may qualify if…

• confirmed diagnosis of BTHS or healthy control
• age 8-35 years
• sedentary (physically active less than 2x/wk)
• stable on medications for ≥ 3 months including ß-blockers, ACE inhibitors, digoxin
• lives in North America, the UK, Europe, South Africa or other locations feasible for travel to the US

You may not qualify if…

• current unstable heart disease
• diabetes or other known concurrent disease that may affect nutrient metabolism

Where it is running

• Washington University — St Louis, Missouri, United States

Full record on ClinicalTrials.gov

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