Home | Contact Us | Site Map | Français
Enhancing the lives and outcomes
of Canadian individuals and families
affected by Barth syndrome.”

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.


Clinical Trial Coming Soon-- 

Johns Hopkins University protocol IRB00124162: A Phase 2 Randomized, Double-Blind, Placebo Controlled Crossover Trial To Evaluate The Safety, Tolerability, And Efficacy Of Subcutaneous Injections Of Elamipretide (Mtp - 131) In Subjects With Genetically Confirmed Barth Syndrome

If you or your child is 12 years of age or older and has Barth Syndrome, and you are interested in learning about a research study about an investigational treatment for Barth Syndrome, please contact Dr. Hilary Vernon, MD PhD via e-mail at hvernon1@jhmi.edu or at her office at 410-502-8625.

 


Barth Syndrome Registry and 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 get started, and to learn more about the Barth Syndrome Registry, please go to:   www.barthsyndromeregistry.org.

 


Do you 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.

Research Study Info 


 Are you a Barth Syndrome Carrier?

Dr. Cynthia James and Rebecca McClellan of the Johns Hopkins School of Medicine, Baltimore, Maryland are doing a study concerning how Barth syndrome carrier women navigate the family, reproductive, and psychological implications of being a carrier. Please consider the attached information and contact Dr. James or Rebecca McClellan directly if you decide to help.

Are you a Barth syndrome carrier? 


 

Privacy and Disclaimer

Barth Syndrome Foundation of Canada does not endorse any drugs, tests, or treatments that we may report.

This website is for informational purposes, always check with your physician before adopting any medical treatment.

Registered Charity Number:
86102 2002 RR0001

© Barth Syndrome Foundation. All rights reserved.
Web Design by Pixelera