This fund will be used to support individuals with Barth syndrome by providing airfare, lodging, and food while traveling to UF for pre-trial screening, again for the actual infusion, and follow-up care.
R.J. was born in 1998 with a very rare genetic condition called Barth syndrome. Since his birth, we have entrusted his care to Dr. Barry Byrne and his team at the University of Florida, Shands Hospital. For the same 21 years, Dr. Byrne has been researching Barth syndrome and has been a pioneer in the development of gene therapy for similar disorders. Dr. Byrne and his collaborators now believe that gene therapy for Barth syndrome is within reach!
What is Barth syndrome?
Barth syndrome is a serious X-linked genetic disorder, primarily affecting males, caused by a change in a gene called TAZ. In someone with Barth syndrome, the TAZ gene has a change that prevents it from producing a functional gene product, leading to the symptoms R.J. and others with Barth experience.
What are the most prevalent characteristics of Barth syndrome?
Cardiomyopathy - A weak heart muscle usually associated with enlargement of the heart.
Neutropenia - A reduction in “neutrophils,” a type of white blood cell that is most important for fighting bacterial infections.
Muscle weakness - All muscles, including the heart, have a cellular deficiency which limits their ability to produce energy, causing chronic fatigue.
How will gene therapy help?
Gene therapy technology uses a virus, administered via infusion, to place a working copy of the TAZ gene into cells. Copies of the virus will go throughout the body, with the goal of targeting the heart and the skeletal muscles. That means, if successful, cells will begin producing their own TAZ gene product - functioning just like a cell without Barth syndrome.