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.
Do you have Barth syndrome?
United States Residents
A research study is underway to gather information about people’s experience with Barth syndrome. No medications will be given as part of this study. We are looking for people with Barth syndrome 12 years of age and older to participate in a 90-minute interview either over the phone or in-person. During the interview you will be asked to complete and provide feedback on two questionnaires about your experience with Barth Syndrome. You will receive $150 for your participation.
The information you share may help educate the global healthcare community about Barth syndrome and inform the development of new Barth syndrome treatments.
If you would like to participate, please follow the link below that applies to your current age. Use the first link to learn more about the study if you are 18 years of age or older and the second link below if you are 12 to 17 years of age.
FOR PEOPLE 18 YEARS OF AGE AND OLDER: https://www.research.net/r/GQ7666A_ICF
FOR PEOPLE 12-17 YEARS OF AGE AND THEIR LEGAL GUARDIANS: https://www.research.net/r/GQ7666A_M_ICF.
Please contact Kelsey Bruell at Adelphi Values at 617-720-0001 if you have any questions whatsoever.
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.
Do You or a Loved One Have Barth Syndrome?
Dr. John Lynn Jefferies of Cincinnati Children’s Research Foundation is doing a research study concerning the assessment of quality of life, anxiety, and depression in Barth syndrome. Please consider the attached information and contact Dr. Jefferies directly if you decide to help.
"Every Barth syndrome individual should volunteer for this study, whether or not they think they are depressed or likely to become depressed."
“Living with a chronic disease can have a variety of impacts on health and overall well-being. Caring for the entire patient is more than just physical examinations and blood tests. Complete care of patients has to involve an assessment of psychological well-being. All chronic diseases have been shown to have potential negative impacts on quality of life and can drive anxiety and depression. The survey is not designed just for those who are worried or anxious. Instead, it is designed for everyone so that we can better understand Barth syndrome care now and in the future.”
The Female Side of Barth - Calling All Adult Women
What is this research study? As more boys and men are correctly diagnosed with Barth syndrome, mothers, sisters, daughters, and grandmothers face their own challenges. This questionnaire study builds on interviews we did with Barth Syndrome carriers to measure the emotional, family, reproductive, and psychological implications of having a relative with Barth syndrome. We are asking ALL ADULT WOMEN to join. We hope study results will help both health care providers and patient organizations provide better care to women in families with X-linked conditions, especially Barth syndrome!
Study Principal Investigator: Cynthia James / Study Genetic Counselor: Rebecca McClellan