Foundation to Fight H-ABC BLOG
January 13, 2024 ~ Drug Repurposing
The Foundation to Fight H-abc is recruiting patients living with confirmed diagnosis of H-abc/Tubb4a related Leukodystrophy for a study for drug repurposing.
The process of drug repurposing uses AI to identify the most promising uses for a specific disease using existing drugs. Then, for our study, the top matches are tested against patient RNA to determine what is a viable candidate. Machine learning is very well-suited to identifying these patterns, which a researcher would not be able to at the same magnitude. Because generic, FDA-approved drugs have a known safety profile and are already manufactured and available worldwide, often with substantial data already existing to support the potential new use, drugs can go through an accelerated research process. These drugs can get to patients quickly, in months versus decades, at a low cost of less than 1% of new drug development.
Go to our Resource/Drug Repurposing page for more information and sign up for this study: https://www.h-abc.org/drug-repurposing
Synaptix Bio ASO clinical trial update
Synaptix Bio has shared updates on the trial status. Although nothing is ever set in stone, they hope to start the trial in the UK in late 2025/early 2026 followed by the US.
CHOP continues to refine their natural history study to assist with the trial. We ask patients to use this LINK to participate in the survey
Wishing Connor well!
In our blog in August we shared that there was a treatment available developed by Nlorem, and the first child was to be treated. Connor has now had three doses and doing well. Join us in supporting the family and helping with their costs as they pave the way for potential new treatment for others waiting.
Meet Ben - Living Joyfully with Purpose!
Ben Rosenberg, a vibrant 28-year-old with an unbreakable spirit, was diagnosed in the summer of 2024 with TUBB4a-related Leukodystrophy after a lifetime of uncertainty. This rare neurological condition affects his movement, speech, and balance, but Ben embraces life with a philosophy that inspires everyone around him: "Stay joyful and do the best you can with what you got."