Dr. Yukari Blumenthal - UMass Research Update: A "Mute Button" for Alexander Disease?

Great news from the Alexander Disease research world, shared at the ULF conference by Dr. Yukari Blumenthal on behalf of UMass! Scientists at UMass Chan Medical School are advancing a new approach called gene therapy, and results in lab animals are giving us hope.

ULF Presentation: https://youtu.be/YECThgpEQrM?si=TpRLEEqGlI7GxaRM

What’s the Problem in AxD?

Think of DNA as your body’s instruction book. In Alexander Disease, there’s a tiny typo in the GFAP gene. This typo causes cells to make a faulty GFAP protein. Like a misspelled word, the faulty protein clumps inside the brain’s “helper cells” (astrocytes). These clumps, called Rosenthal fibers are part of a chain reaction that damages the nervous system.

How Could Gene Therapy Work?

Scientists designed a way to deliver a genetic “mute button” in a single therapy dose.

1. The Delivery Truck: An empty virus shell called AAV9, which targets the brain and astrocytes.

2. The Special Message: Inside is an amiR (artificial microRNA). It tells the cell to “turn down the volume” on the faulty GFAP gene, reducing harmful protein buildup.

Did It Work in Lab Animals? Yes, results are promising.

• Reduced protein clumps in the brain

• Improved balance, coordination, and grip strength

• Safe after 13 months, with no harmful effects on major organs

What’s Next?

These results are an important step forward! The research team is now planning its next steps, which include meeting with the FDA to discuss how to move this research toward clinical trials.

How You Can Help!

A big thank you to UMass and the team at Astellas Pharma, and to everyone who supported the research with donations. After an AxD mom connected UMass to End AxD, and End AxD funded 1 year of research another patient family crowdfunded another year!

This is what hope looks like: turning science into potential treatments for our loved ones.