Research finds most-effective administration method for stem gene therapy in Sanfilippo Type B

February 7, 2024

A multi-year study, led by Coy Heldermon, MD, PhD, at University of Florida and co-funded by Cure Sanfilippo Foundation and Sanfilippo Children’s Foundation (Australia), into whether stem cell therapy could restore damage cause by Sanfilippo Syndrome is now complete.

Most therapies under investigation for Sanfilippo Syndrome are aimed at restoring functional enzyme, reducing heparan sulfate storage, or providing improved quality of life. But these do not address restoration of the damage done prior to therapy.

Dr. Heldermon and his team have been investigating in Sanfilippo Type B mice whether regeneration of damaged central nervous system and prevention or reversal of immune activation by neural stem cells (NSC) and mesenchymal stem cells (MSC) is possible.

The team used human-derived mesenchymal stem cells and mouse-derived neural stem cells that could be tracked via a fluorescent label. To determine the best type of stem cells and delivery method, they injected the stem cells into the brain via three different injection sites. Their results indicate that the body’s immune system cleared away the mesenchymal stem cells, which did not last as long in the brain compared to the neural stem cells.

The team tested different administration routes of the neural stem cells and found that a combined approach, with injections in parts of the brain and in its fluid-filled spaces, may be most effective in delivering this type of stem cell therapy.

The project overcame delays due to COVID-19, mouse breeding issues, supply chain delays, and
delays in repairing key equipment for the project. The team presented their results in posters at the
2022 and 2023 WORLDSymposium, the major global conference focusing on lysosomal storage

Heldermon and team plan to continue work on stem cells for Sanfilippo towards getting data to
ultimately start a clinical trial for patients.

Learn more about this research project.

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