Clinical Trials

The mission of the Barth Syndrome Foundation (BSF) is: Saving lives through education, advances in treatment, and finding a cure for Barth syndrome. In order to fulfill that mission the membership of BSF will necessarily have to be involved in clinical trials or clinical studies as they occur. BSF seeks to encourage voluntary participation in clinical trials by its membership in a general sense, but is prohibited from endorsing any particular trial or study. BSF will strive to provide as much information to its membership as it is able, and BSF will advertise the availability to voluntarily participate in clinical trials or studies as they occur. In the final analysis the decision to participate in clinical trials or studies is up to the individual or the individual’s parents/guardians.

Effects of Resistance Exercise Training on Cardiac, Metabolic and Muscle Function and Quality of Life in Barth Syndrome Identifier: NCT01629459

Barth syndrome (BTHS) is a disorder that is characterized by heart failure, exercise intolerance and skeletal muscle weakness. Preliminary evidence demonstrates that endurance exercise training does not significantly improve exercise tolerance in BTHS. Because endurance exercise training targets a metabolic pathway that is adversely affected by BTHS, the investigators hypothesized that resistance training may improve exercise tolerance in BTHS because this type of training targets a different metabolic pathway than does endurance exercise. Therefore, the overall objective of the pilot/feasibility/proof-of-concept proposal is to collect preliminary data on the following hypothesis: Supervised resistance exercise training (3x/wk, 45min, 12 wks) will improve exercise tolerance, heart function, muscle strength and quality of life, and will be found safe in adolescents and young adults with BTHS.


William T Cade, PT, PhD (Telephone) 314-286-1432 (Email)

Kathryn Bohnert, MS (Telephone) 314-362-2407 (Email)

Treatment of Barth Syndrome by CARDIOlipin MANipulation (CARDIOMAN): A randomised placebo controlled pilot trial conducted by the nationally commissioned Barth Syndrome Service

Sponsor: University Hospitals Bristol NHS Foundation Trust

Status: In Set Up

Funding: National Institute for Health Research (NIHR) Efficacy and Mechanism Evaluation (EME) programme and the Barth Syndrome Foundation USA.

Barth syndrome is a rare, life threatening, genetic disease which affects young males. It is caused by abnormal fats (lipids) in the powerhouses of cells (mitochondria) and those who suffer with it often develop heart failure, heart rhythm abnormalities, bacterial infections, poor growth or feeding, weak muscles, developmental delay, severe exercise intolerance, lethargy and fatigue; all of which affect their daily life. Low white blood cell counts occur frequently due to intermittent or persistent reduction in numbers of the neutrophils that are responsible for fighting bacterial infections. This requires expensive and distressing injections to stimulate the bone marrow to produce more neutrophils. In addition, approximately one third of all males living with this disease in the UK have required heart transplantation.

Contact Information

Chief Investigator: Professor Colin Steward

Study Coordinator: Lucy Dabner


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Last updated 2/28/2019

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