By participating in a research project, you can play a role in helping physicians and other researchers develop and test better ways to diagnose and treat individuals affected by Barth syndrome. You can make a difference! Please consider becoming a research participant today.
Barth Syndrome Interview Project
Are you participating in the TAZPOWER trial using Barth syndrome treatment injections developed by Stealth BioTherapeutics? If so, you and your caregiver or someone close to you are invited to participate in another study sponsored by Stealth.
This is a quick, in-home study that gives people with Barth syndrome and their caregivers/observers the opportunity to explain any ways in which patient functioning and lifestyle may have changed during the TAZPOWER trial in their own words. Patients and their caregivers/observers will simply download an app on their phone and use that app to video record an interview about the way patients felt and functioned during the trial. The answers provided will be combined with the data captured during the trial to develop a full picture of the treatment’s impact on the patients’ lives.
The interview should take about 60 minutes and can be done completely from home. Each patient or caregiver/observer who completes the interview will receive a $50 Amazon gift certificate for their time.
If you are interested in participating or have any questions, please contact Casimir study staff at 800-881-5657 or at firstname.lastname@example.org.
Download Barth Recruitment Flyer
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 email@example.com; or the Principal Investigator, Todd Cade, PT, PhD at 1-314-286-1432 or firstname.lastname@example.org for more information.
Listen to Dr. Cade's webinar about this study.
Johns Hopkins University Protocol IRB00124162: A Phase 2 Randomized, Double-Blind, Placebo Controlled Crossover Trial to Evaluate The Safety, Tolerability, And Efficacy Of Subcutaneous Injections Of Elamipretide (Mtp - 131) In Subjects With Genetically Confirmed Barth Syndrome.
If you or your child is 12 years of age or older and has Barth syndrome, and you are interested in learning about a research study about an investigational treatment for Barth syndrome, please contact Dr. Hilary Vernon, MD PhD via e-mail at email@example.com or at her office at 410-502-8625. https://clinicaltrials.gov/ct2/show/NCT0309879
Barth Syndrome Registry & Repository
The purpose of the Barth Syndrome Registry and Repository (BRR) is to amass information and biological specimens from individuals with Barth syndrome (BTHS) into a single database which will be utilized by researchers to better understand Barth syndrome. Through our families' contribution to the BRR, knowledge is gained, research is facilitated, and differences are being made.
The BRR empowers every person who has BTHS and family members around the world to make a difference in the fight to conquer BTHS. By participating in the BRR and completing your profile survey about your own unique experience with BTHS, you are contributing to a global database about the accessibility of diagnosis, care and treatments, and disease severity of BTHS. The BRR is a centralized resource that is vital to helping researchers learn more about BTHS, accelerating the development of new research and treatments, identifying issues that need research, and improving the care of all those with BTHS.
The BRR recognizes the importance of global collaboration. One of the goals of the Registry is to enable researchers from around the world to work together to speed research progress. The BRR connects all those interested in accelerating BTHS research – affected individuals, families and researchers – with a resource that has never before been available in one place.
Every person counts in the fight against BTHS. As a participant in the BRR, you will be able to explore data and view how your answers may compare to others. You will also have access to information about new research for BTHS and ways to participate in studies and clinical trials. By logging into your profile, you can review the results of published and unpublished studies that result from the BRR.
To learn more about the Barth Syndrome Registry go to www.barthsyndromeregistry.org.
Assessment of quality of life, anxiety, and depression in Barth syndrome: Expanding the scope of comprehensive care
Do You or a Loved One Have Barth syndrome? Dr. John Lynn Jefferies of Cincinnati Children’s Research Foundation is doing a research study concerning the assessment of quality of life, anxiety, and depression in Barth syndrome. Please consider the attached information and contact Dr. Jefferies directly if you decide to help.
"Every Barth syndrome individual should volunteer for this study, whether or not they think they are depressed or likely to become depressed."
“Living with a chronic disease can have a variety of impacts on health and overall well-being. Caring for the entire patient is more than just physical examinations and blood tests. Complete care of patients has to involve an assessment of psychological well-being. All chronic diseases have been shown to have potential negative impacts on quality of life and can drive anxiety and depression. The survey is not designed just for those who are worried or anxious. Instead, it is designed for everyone so that we can better understand Barth syndrome care now and in the future.”
Adaptation to living in a family with Barth syndrome: The influence of carrier status and social support
Johns Hopkins Medicine IRB000099811
What is this research study? As more boys and men are correctly diagnosed with Barth syndrome, mothers, sisters, daughters, and grandmothers face their own challenges. This questionnaire study builds on interviews we did with Barth Syndrome carriers to measure the emotional, family, reproductive, and psychological implications of having a relative with Barth syndrome. We are asking ALL ADULT WOMEN to join. We hope study results will help both health care providers and patient organizations provide better care to women in families with X-linked conditions, especially Barth syndrome!
Study Principal Investigator: Cynthia James / Study Genetic Counselor: Rebecca McClellan