Skip to main content

Clinical Trials and Studies

Our mission at BSF is to save lives through education, advances in treatment, and finding a cure for Barth syndrome.

A fundamental step towards accomplishing this goal is the participation of our community and affected individuals in clinical studies and trials. And although we encourage participation in research, we stress that it is always the individual's choice to engage and participate in research.

In this section, we will provide relevant information about ongoing Barth clinical research, alongside the contact information and recruitment flyers provided by researchers and their institutions.

If you have question about specific studies below, please reach out to the study investigator or coordinator. For general questions and comments about clinical research, please reach out to erik.lontok@barthsyndrome.org


Barth Syndrome Seizure & Stroke Study

Institution: University of California, Los Angeles (UCLA)

Status: Actively recruiting affected individuals

Dr. Bianca Russell and Dr. Yue Huang of the UCLA Department of Pediatrics, Division of Genetics, are conducting a research study to learn more about the best ways to care for patients with Barth syndrome. The purpose is to gather information about progression, treatments and outcomes for patients with this disorder. The study has a special interest in Barth syndrome patients who have a history of seizures or stroke.

This study is open to all affected individuals with:

  • a clinical or molecular diagnosis of Barth Syndrome
  • a history of seizures or stroke

Contact Information:

Yue Huang, MD, yuehuang@mednet.ucla.edu


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

ClinicalTrials.gov Identifier: NCT01629459

Status: Actively recruiting affected individuals, one year post transplant

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.

Contact information:

William T Cade, PT, PhD (Telephone) 314-286-1432, tcade@wustl.edu

Kathryn Bohnert, MS (Telephone) 314-362-2407, bohnertk@wusm.wustl.edu


Affected Males’ Perspectives on Relationship-building and Family Planning Related to Barth syndrome

Institution: Boston University

Status: Completed, Participants n=4

Led by Jason Shandler (Boston University) and in collaboration with Cindy James and Becky McCellan (Johns Hopkins Medical Instition) this study will involve an interview to discuss topics such as dating, relationships, family planning, support networks, and reproduction. Open to affected individuals 18 years and older, this study builds upon our efforts in hearing and communicating the patient’s voice to the broader research community. This study is actively recruiting and open to US and international-based individuals.

Contact Information: Jason Shandler jas11@bu.edu


TAZPOWER: Assessment of Elamipretide in Individuals with Barth syndrome

Clinical Trials.gov Identifier: NCT03098797

Sponsor: Stealth BioTherapeutics

Status: Trial completed, fully recruited n=12. Data analysis ongoing.

The first ever clinical trial in Barth syndrome sponsored by Stealth BioTherapeutics and led by Hilary Vernon (JHMI) has completed the randomized control period – where individuals receive either drug or inactive treatment/placebo, then switched after 4 months – and is currently in open-label extension, where all trial participants know they are on drug. The trial began with 12 participants, and 8 individuals are currently participating in open-label extension. In October, we learned that the randomized control trial segment did not meet the original endpoints of improvements in the 6-minute walk test as well as other physiological measures, however, data analysis during the open-label extension found a 27% increase in average cardiac stroke volume, or the amount of blood pumped by the heart’s left ventricle per contraction. The open label extension involving 8 participants will continue with U.S. FDA review occurring later this year. Data analysis is ongoing, with results to be presented during the 2020 BSF Family, Science & Medicine Conference

For more information please click here.


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: Trial completed, fully recruited n=12. Data analysis ongoing

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

CARDIOMAN is currently assessing the impact of bezafibrate as a repurposed drug for Barth syndrome. Led by Guido Pieles and Colin Steward, this study is ongoing and conducted out of the Bristol Barth Clinic (UK). Following a similar randomized control process like TAZPOWER, bezafibrate or placebo is given to participants for 4 months, followed by a one month break, and then switched for the following 4 months. The trial will assess the effects of bezafibrate on blood cells, exercise capacity, heart function, and quality of life. Involving 18 individuals affected by Barth syndrome (6 years or older), this trial is fully recruited with the final tests conducted at the end of 2019. Data analysis is ongoing, with results to be presented during the 2020 BSF Family, Science & Medicine Conference. This trial was heavily guided by basic research funded by BSF and led by Zaza Khuchua (Cincinnati Children’s) and Mindong Ren (NYU).

Contact Information: 

Cardioman-trial@bristol.ac.uk

Please click here for more information.


Last updated 6/18/2020

Powered by Firespring