Barth Syndrome Registry at the University of Florida
Website: http://www.peds.ufl.edu/barthsyndromeregistry
E-Mail: barthregistry[at]peds.ufl.edu
The Barth Syndrome Registry and DNA Bank (BRR) at the University of Florida was created to provide additional information about this rare disorder. By collecting information directly from families and abstracting medical information from patient records, we hope to build a large anonymized database that is useful for answering scientific research questions and that is a source of medical information. Additionally, we are collecting blood samples for DNA isolation and storage and for the development of special cell lines. These tools will allow researchers to better understand the cellular and genetic nature of this disease and how these abnormalities may impact the clinical variability of Barth syndrome patients.
Patient Family
If you are a Patient Family and are interested in enrolling your child in the database and/or the DNA Bank, please visit: https://www.peds.ufl.edu/barthsyndromeregistry/register.htm. This is a wonderful and very valuable way to contribute to Barth syndrome research and to help move knowledge about the disorder forward.
Physician / Researcher
If you are a physician or researcher interested in conducting research using the medical data from the Registry, DNA isolated from patients, or cell lines derived from patients, please consult the Barth Syndrome Registry Scientist & Researcher Information and the DNA Bank Researcher Information and Instruction Sheet.
Currently available data from the Barth Syndrome Registry and Medical Database includes information obtained from families and patients themselves, i.e. self-reported data. This includes basic demographics, age at diagnosis of Barth Syndrome, reason for diagnosis, family history; symptoms, presence or absence of a history of cardiomyopathy, history regarding hospitalizations, cardiac transplant or listing for transplant, presence or absence of a history of neutropenia; history of infections, medical therapy and basic developmental history. The intake questionnaire that is filled out by families who are enrolling is posted under the “how to register” section of this website. We are in the process of abstracting medical data to build a more complete medical database and may be able to provide additional data with a specific request.
Currently the DNA bank has data from 61 patients, genomic DNA from 49 patients, and lymphoblast lines from 40 patients. However, this is increasing as new patients enroll in the Registry. Please contact us with questions and specific requests about data or specimens.
ADVISORY BOARD
Carolyn Spencer, MD
Co-Principal Investigator
Division of Pediatric Cardiology
Boston Children´s Hospital
Boston, Massachusetts |
Barry J. Byrne, MD, PhD
Co-Principal Investigator
Cardiology Director
Department of Pediatrics
Shands Children´s Hospital
University School of Medicine
Gainesville, Florida |
Melissa Maisenbacher, MS, CGC,
ex-officio
Medical Data Abstraction
University of Florida College 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 |
Michael Schlame, MD
Department of Anesthesiology
New York University School of Medicine
New York, New York |
Colin G. Steward, FRCP, FRCPCH, PhD
Pediatric Hematology
Bristol Royal Hospital for Children
Bristol, England |
Matthew J. Toth, PhD
Science Director
Barth Syndrome Foundation |
