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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 or

Barth Syndrome Seizure & Stroke Study

Institution: University of California, Los Angeles (UCLA)

Status: Closed and no longer enrolling. 

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,

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

Status: Closed and no longer enrolling. 

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,

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

Do You or a Loved One Have Barth Syndrome? Children, Teens and Adults Needed to Volunteer for a Research Study

Institution:  Cincinnati Children's Hospital

Status: Closed and no longer enrolling. 

Why are we doing this research?

Cincinnati Children’s is conducting a research study, sometimes known as a clinical trial or clinical study, to better understand the frequency of depression, anxiety and health related quality of life in people with Barth syndrome (BTHS). We also want to develop a patient/parent-reported, BTHS-specific checklist that will help us identify gaps in clinical care.

We hope this information can be used to learn more about targets for clinical interventions and treatments.

Who can participate?

Children, teens and adults, 5 years and older, who have Barth Syndrome may be eligible for participation.

Participants must have home Internet connection to complete online questionnaires and communications.

What will happen in the study?

If you (a participant 18 years and older) or your child qualifies and you decide to take part in this study, you will complete 2 projects and be in this research study for 12 months or 1 year.

During project 1, participants and parents/legal guardians of participants will complete health related quality of life (HRQoL) questionnaires. Project 2 involves providing feedback for a BTHS-specific symptom checklist.

Participants/parents/legal guardians will complete questionnaires 3 different times, 6 months apart, during a 12-month period (at 0 months, 6 months, 12 months). The questionnaires, completed over the Internet at home, will gather your beliefs about you or your child’s HRQoL, anxiety and depressed mood.

All communications and feedback will be done over email.

This focus group will occur during the 12-month study period.

You, as a participant or as a parent/guardian, will be given a consent form that thoroughly explains all of the details of the study. A member of the study staff will review the consent form with you and will be sure that all of your questions are answered.

What are the good things that can happen from this research?

There is no direct benefit to participating in this study. However, the information learned from this research study may help other patients diagnosed with Barth syndrome in the future.

What are the bad things that can happen from this research?

There are no medical risks associated with participating in this research study. There is the potential risk of release of identifying information, which will be minimized by the use of a secure web platform and de-identifying of any of your private information. There is also a risk that participants could become upset when completing the surveys. Participants will be given a number to call and speak with someone if they have concerns.

Possible risks will be provided to and discussed with those participants, parents or guardians interested in knowing more about this study.

Will you/your child be paid to be in this research study?

Participants will not be paid for their time, travel or effort during this research study.

Who should I contact for more information?

Alyssa Rohde 


Cincinnati Children’s Hospital Medical Center

Heart Institute

3333 Burnet Avenue

Cincinnati, OH  45229-3039

Study Doctor:

Thomas Ryan, MD

Director, Advanced Heart Failure and Cardiomyopathy

Cincinnati Children’s Hospital Medical Center

Heart Institute

CCHMC IRB #2014-7162: V1


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

TAZPOWER: Assessment of Elamipretide in Individuals with Barth syndrome

Clinical 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:

Please click here for more information.

Last updated 6/18/2020

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