Project: Gene therapy with intracranial delivery of capside enhanced AAV NAGLU (MPSIIIB), Dr. Coy Heldermon at the University of Florida.

The Foundation is joined by Sanfilippo Initiative in Germany and Sanfilippo Children Foundation in Australia as funding partners contributing a combined AUD$90,000 to this project.

This study aims to test several different modifications to existing gene therapy technology, along with different ways of administering it, to find the best combination to move forward to clinical trial.

Gene therapy for Sanfilippo involves using a harmless virus to deliver a healthy copy of the gene that is faulty. Small clinical trials have already been completed or are underway for Sanfilippo types A and B but it is widely accepted that further optimisation of gene therapy technology may be necessary to bring a highly effective therapy to the clinic.

This project will test gene therapy in mice with Sanfilippo Type B using a type of virus called adeno-associated virus (AAV) to deliver the NAGLU gene into the brain and rest of the body. They will test different types of AAV that have had their protein shell altered to improve their ability to deliver the gene and reduce the chance of the immune system attacking it. They will also compare delivery of the gene therapy by injection directly into the brain and into the spinal cord.

The researchers will measure success of the gene therapy by assessing the distribution of NAGLU production throughout the body and the ability of the mice to complete tests that measure their balance and agility. Sleep disruption is an early symptom of Sanfilippo and the same is true for Sanfilippo mice, so the researchers will also measure activity during the day (when they would normally be asleep) as an indication of disease progression.

“We wish to express our great appreciation to the families that care for children with MPS III and for the efforts they have made to raise money to find a cure. We believe the optimised AAV vector holds great promise to improve gene delivery to the central nervous system and provides a path to a viable commercial product in a short time frame. Thank you for your support,” said Dr. Coy Heldermon.

Dr. Heldermon is a medical doctor and has a Ph.D. in Biochemistry and Molecular Biology. His research expertise is in the use of gene replacement and stem cell therapies for the treatment of inherited disorders such as lysosomal storage diseases.

Chief investigator: Dr. Coy Heldermon
Project title: Gene therapy with intracranial delivery of capsid enhanced AAV NAGLU (MPSIII B)
Amount: $90K (over 1 year)
Location: University of Florida, USA
Status: Active
Start date: March 2017