Field Trip Time!

At the beginning of this year, we began a sponsored research agreement with the Gray Lab at UTSW for a mouse model proof-of-concept study to develop and test an LNPK gene therapy in mice. The team believes that LNPK is a good candidate for AAV9, and has begun work to develop an animal model of our disorder and a gene therapy to restore the LNPK gene and protein.

Dr. Stephen Gray pioneered AAV gene therapy treatments for several rare neurological diseases and his lab is one of the top labs in the world using this technology. His team’s work includes preclinical studies for Rett Syndrome, Giant Axonal Neuropathy (GAN), Tay-Sachs, Krabbe, AGU, and Batten Disease, and has expanded to human clinical studies for GAN, SPG50, and Rett Syndrome. The treatments beginning in his lab are actually making it to patients! We are so grateful to have this team working on LNPK. Xin, Merve, Thomas and Dong really enjoyed meeting the girls. I could tell that its such a special experience for them to meet the families they are helping.

Earlier this month, our family traveled to Dallas (yes in August, omg) to finally meet the researchers in person, tour the lab, and get an update on their progress. The girls did great on the plane!

We learned a lot, talked about what’s next and asked questions about this journey we’ve begun together. Brooke and Olive played during our meetings, and Steve was so kind to make it an enjoyable and memorable trip for Brooke. He showed her things in the lab, and even gave her some fun science goodies to bring home. It has made such an impression on her, and we are so grateful that this trip “about her sister” could be a positive experience for her too.

What stood out the most is that this is an incredible group of human beings who truly care about the work they do and why they do it. They couldn’t be more humble, kind, and honest. They asked us hard questions and gave honest answers in responses to our hard questions. After our discussions and tour of the lab, we ventured into the August heat to enjoy some Texas BBQ together.

Thank you to these folks who works every day to make the impossible, possible for rare disease families. And thank you for giving Olive’s big sister Brooke the best “field trip” imaginable!

We’ll be back!