FEBRUARY 2024 ANNOUNCEMENTS

Our goal as The SPATA Foundation is to advance research and keep families informed as we do so.

Please direct any questions to info@spatafoundation.org

Summary of Information

• We are officially getting MOUSE MODELS! Jax Labs has agreed to create two CRISPR engineered mouse models, one for SPATA5 and one for SPATA5L1. These mice will take about a year to engineer & will be able to be used in all kinds of research!

• We are continuing to pursue the drug repurposing project that will see if any drugs currently on the market can help with SPATA5/SPATA5L1. This is the project that you can share your child’s sample in by purchasing a kit for $1350. I’m thinking we’ll be ready to start collecting money for kits in March, but TBA. The entire project will cost $90,000 and take approximately 5-6 months depending on samples & payment.

• We have two groups actively researching these genes!

  • Group 1 (USA, Germany, UK): Planning a Natural History Study to characterize how these disorders affect our children over time.

  • Group 2 (Canada): Tapas & Dana are trying to better understand what exactly these genes do and WHY mutations in them cause these symptoms. They will particularly be interested in blood & skin samples. We’re working on coordinating that.

• We’re going to be launching an official Patient Registry soon! This is very exciting, because a Patient Registry is a building block for all future research. It will allow us to gather de-identified data from all patients around the world in a central place like symptoms, medications, etc. It will be useful for us as parents and accessible to researchers around the world. This should be coming in the next month or so, and will be very important for everyone to participate in.

• Dr. Kruer is working on setting up a designated SPATA Clinic in Phoenix, AZ that would allow our children to be seen by specialists knowledgeable in SPATA5 and SPATA5L1.

• We’re in discussion with UMASS’s Gene Therapy Program for potentially developing gene therapy. This is a long-term project, but it’s starting to be discussed!

• We’ll have a Google Meet virtual call this Saturday February 17th at 1pm USA Eastern Time for anyone who can hop on just to talk, ask questions, meet each other, etc. Link: https://meet.google.com/pda-whsi-ean

Please stay tuned for future updates regarding how to submit information for research.