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Updates from Barth Syndrome Foundation
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Dr. Todd Cade and the Bod PodResearchers report that individuals with Barth syndrome rely on glucose instead of fat to generate energy for exercise.

Recently published results demonstrate that during exercise individuals with Barth syndrome (BTHS) are limited in their ability to generate energy from fat, and instead rely on glucose metabolism to meet their energy needs. With the participation of 29 Barth guys, Cade et al deployed a suite of tools including the bod pod (pictured left with Dr. Cade), heart function monitoring, blood draws, and graded exercise tests to better understand the rate of glucose and fat consumption and conversion into energy. 

The limited ability of children, adolescents, and young adults with Barth syndrome to generate energy from fat and instead rely on glucose not only associates with impaired muscle and heart function, but also aligns with anecdotal reports of younger patients consuming cornstarch (a complex carbohydrate source for glucose) to prevent nocturnal hypoglycemia. These results further expand our physiological understanding of Barth syndrome and provide potential outcome measures for future therapeutic opportunities for people with Barth syndrome.

In order to understand what may change in the context of a heart transplant, Todd Cade is actively recruiting four to five individuals with Barth syndrome to participate in a similar study described here.

Cade et al Figure 1, Glucose vs Fat at rest

Image: (A) Glucose and (B) Fat/lipid consumption during rest, exercise, and post-exercise. Image modified from and under copyright by J Inherit Metab Dis, PMID 30924938


#CareAboutRare: Rare Disease News and Events

Rare but not alone! Partner organizations in rare disease are offering excellent resources this month, including:


The FDA's Role in Gene Therapy, a NORD webinar scheduled for October 30th @ 2PM EDT, 11AM PDT. The potential for gene therapy products to change the lives of patients with debilitating or terminal conditions provides hope for the future. Gene therapy research is exploding at a rapid pace and a number of products are advancing in clinical development. The Center for Biologics and Evaluation Research (CBER) at the Food and Drug Administration (FDA) supports progress in gene therapy and helps expedite new product development for unmet medical needs using review pathways designed to advance innovative, safe and effective treatment options.
Registration is free and more information can be found here.

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NEXT: Imagining the Future of Rare Disease, published by Global Genes and Levine Media Group.

"We need to drive R&D and attract interest in our rare disease. We can't hope that people are going to be looking on the Internet and say, 'Oh, I should just apply to them for a grant.' It is incumbent on us to go out and drive that. We have to be out there beating the bushes," said Emily Milligan, BSF's Executive Director in the NEXT report. "Part of that will be the more traditional R&D pathway - discovery, preclinical and then going into clinical studies - but we want to be open to alternative methods as well, like the AI work we are doing right now."

Request a download of this comprehensive report here.


Nobel Prize Sir Peter Ratcliffe 2019
"Grant proposal deadlines wait for no-one!"


Image: Sir Peter Ratcliffe sitting at this desk working on a grant application, after learning he was a co-recipient of this year's Nobel Prize in Physiology or Medicine for discoveries of how cells sense and adapt to oxygen availability.


Applicants for Idea (1-year) or Development (2-year) research grants are kindly reminded that the BSF call for proposals ends on Thursday, October 31st.

Research grant award details and application instructions available here.


Have suggestions, comments, feedback or requests for future editions of the BSF Research Brief? Reply to this email or reach out to me directly here.


Your support today may save the life of someone with Barth syndrome in the future. Please consider supporting BSF's Research Program.



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