Participate in

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.


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 bohnertk@wustl.edu; or the Principal Investigator, Todd Cade, PT, PhD at 1-314-286-1432 or tcade@wustl.edu for more information. 

Listen to Dr. Cade's webinar about this study.


This study seeks to describe how individuals with Barth Syndrome do after being formally listed and/or receiving a heart transplant

HOW: Drs. Feingold and Taylor will combine heart transplant data from a registry (PHTS) to data in the Barth Syndrome Registry. By completing the Barth Syndrome Registry questions about heart transplants, your data can also be included in this important study!

More information about the Barth Syndrome Registry can be found at:

BARTH SYNDROME REGISTRY
Principal Investigator: Matthew Toth, PhD
https://barthsyndromeregistry.patientcrossroads.org

Full participation in research by our BSF community is vital for finding a treatment. The data you are providing through the Barth Syndrome Registry is being mined to fuel research. It is easy to answer the multiple-choice questions and help our researchers. We estimate it would take <10 minutes to complete the transplant-related questions in the Barth Research Registry. When you enroll in the Barth Syndrome Registry you will need to provide your consent (permission) before answering any questions.

The overall goal of this study is to better understand the transplant experience in BTHS. We are aware of 38 individuals who have received a transplant with BTHS, 16 have responded to the transplant survey so far. We really need more (everyone) to participate! Please enroll in the Barth Syndrome Registry if you have not done so already and complete the questionnaire.

PLEASE NOTE: A copy of the individuals genetic test results (or a medical diagnosis) are required to be part of the Barth Syndrome Registry. 


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.

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