Opportunities to help with
Barth Syndrome Research
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. See the video below – “The Critical Role of Patients in Rare Disease Clinical Trials”.
Clinical Trials, Studies, and Ways to Help
For information see BSF for Clinical Trials and the Policy on Clinical Trials and Clinical Studies. (.PDF)
Gene Replacement Therapy for Barth Syndrome
Gene replacement therapy is the most promising gene therapy for individuals with Barth syndrome. A functional tafazzin gene is added to many of the cells of the body and compensates for the native dysfunctional tafazzin gene – the cause of Barth syndrome. The details of if and how for a gene replacement therapy clinical trial for Barth syndrome are being developed and regulatory approval will be sought. Enrollment may be 1.5 to 2 years away. See BSF for further information.
Barth Syndrome Registry and Repository
The purpose of the Barth Syndrome Registry and Repository (BRR) is to amass the 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 up the 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 get started, and to learn more about the Barth Syndrome Registry at https://barthsyndromeregistry.patientcrossroads.org/.