Barth Syndrome Registry and Repository

Barth Syndrome Foundation selected for Global Rare Disease Registry

The Barth Syndrome Foundation (BSF) has been selected as one of thirty-four rare disease organizations to participate in a two-year pilot program of the National Institutes of Health called the Global Rare Disease Registry and Data Repository (GRDR). As a pilot participant, BSF will work in partnership with leaders in rare disease research at the Office of Rare Diseases Research, National Center for Advancing Translational Sciences, National Institutes of Health, PatientCrossroads, Children Hospital of Philadelphia and WebMD. The GRDR program will collect de-identified patient health information from participating registries established by the individual rare disease organizations in order to allow analyses of data across many rare diseases as well as to facilitate clinical trials and other studies.

We are delighted to take part in the pilot program, as research that we have funded for over a decade has made it clear that Barth syndrome, as a multi-system disorder, shares aspects of many other diseases. BSF believes that a collaborative approach is the best way to serve families and, ultimately, to find a specific treatment. Since 2002 BSF has funded 63 peer-reviewed research grants totaling over US $2.3 million, hosts a biennial scientific, medical and family conference, maintains a genetic mutation database for the causative gene of Barth syndrome (tafazzin). We currently have affiliates in Canada, France, the United Kingdom and South Africa.

BSF is dedicated to supporting those with Barth syndrome, their medical professionals, and the scientists who work to understand the disorder. The BSF community has benefitted from the research that has emerged in the last decade, and we expect the GRDR effort to attract even more efforts to test scientific or clinical theories.

About GRDR

Matthew J. Toth, PhD, Principal Investigator
Valerie M. (Shelley) Bowen, Coordinator

Information regarding the Global Rare Disease Registry and Data Repository pilot program is available at http://grdr.info.

Barth Syndrome Registry & Repository (Presentation for National Health Council)
Given by Lindsay Groff, MBA
February 15, 2013

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TISSUE BANK ADVISORY COMMITTEE

Carolyn Spencer, MD Co-Principal Investigator Pediatric Cardiology East Carolina University Greenville, North Carolina	Amy E. Roberts, MD Co-Principal Investigator Cardiovascular Genetics Research Program Children´s Hospital Boston Boston, Massachusetts
Barry J. Byrne, MD, PhD Cardiology Director Department of Pediatrics Shands Children´s Hospital University School of Medicine Gainesville, Florida	Gerald Cox, MD, PhD Senior Medical Director Genzyme Corporation Cambridge, Massachusetts
Richard I. Kelley, MD, PhD Division of Metabolism Kennedy Krieger Institute Johns Hopkins University Baltimore, Maryland	Melissa Maisenbacher, MS, CGC,    ex-officio Medical Data Abstraction University of Florida College of Medicine Gainesville, Florida
Michael Schlame, MD Department of Anesthesiology New York University School of Medicine New York, New York	Colin G. Steward, FRCP, FRCPCH, PhD Pediatric Hematology Royal Hospital for Children Bristol, England
Matthew J. Toth, PhD Science Director Barth Syndrome Foundation, Inc. Iselin, New Jersey