Gene Therapy Update 8/21/26

Hi families! Our last update came in May during our family meeting with Dr. Xin Chen at UTSW when we learned that his early results are very promising and he now has the treatment in the bodies of mice with ADSLD. So exciting! We also learned he required more funding, and we’ve been steadily fundraising since then. While he did give us a deadline of September 1^st, this was unrealistic for us.

Instead, we are going to grant funds as we raise them. This method leaves us with a bit more flexibility, while retaining our ability to receive all necessary project reporting and milestones through the terms of the grant. Dr. Chen will be applying for our first ever “Rapid Response” grant in September to keep this project going. Families that have participated in fundraising for this effort are invited to be on Rare Bird’s Grant Giving Committee.

This committee will review grant applications, score them, be available for a short meeting to discuss applications as a group, and choose a recipient. This first round is unlikely to have many applications, so the process will be straightforward. We are lucky to have Vice President Justin Lytle guiding this process, as he has extensive experience in grant review professionally.

But there is a wild surprise too, and I just found out a few days ago...

Dr. Marie Zikanova in Prague has also started an AAV gene therapy investigation. Her investigation has caught up to Dr. Chen’s (already) and has replicated his early results in patient fibroblasts. They have ADSLD mice, so the treatment is going into those animals right now. Dr. Zikanova’s lab is grant-funded at this time and she has asked for no money from us, although this is not to say she won’t require more funding in the future. Rare Birds Foundation did write a letter of support for her work last year, which was part of the application for her grant funding, so that feels good to have contributed in that way.

More detailed scientific information is available for this project, please email me to receive the full update. nicole@rarebirdsfoundation.org

This leaves us with 3 gene therapy investigations globally, 2 of which have a treatment going into ADSL Deficient mice at this time. This makes us an incredibly strong group for industry investment in the future, as our results will (hopefully) be replicated across multiple investigations. I shared this information with Dr. Oleg  at NIH and his response was essentially, it is wonderful to research on both sides of the Atlantic for regulatory purposes especially, and will strengthen our application for the IND (Investigational New Drug) when that time comes.

Another surprise this week, I have been invited to speak at a conference next month in Prague with Dr. Zikanova about ADSLD, Rare Birds Foundation, and how we work together as a community to advance gene therapy. Again, this comes at no cost to either myself, or more importantly to Rare Birds Foundation. I am over the moon to represent us in Prague, where this will hopefully lead to even more investment and interest.

Thank you to everyone who is raising funds, sharing about the disorder, praying, or just existing through this wild ride of ADSL Deficiency. We are making progress together!