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 By logging into your profile, you can review the results of published and unpublished studies that result from the BRR.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 get started, and to learn more about the Barth Syndrome Registry, go to: www.barthsyndromeregistry.org.
To view a video “Summarized findings from the Barth registry interviews: Key points for moving forward” by Anthony Aiudi, PharmD, Stealth Biotherapeutics, Newton, MA from BSF 9th International Scientific, Medical & Family Conference July 20, 2018 ~ Clearwater Beach, FL see BSF.
Erik T. Lontok, PhD, Director of Research
Valerie M. (Shelley) Bowen, Coordinator