Research & Treatment Pathways

There is genuine hope for children with Sanfilippo syndrome. Multiple treatment pathways are currently under development, several of which are on a 2–3 year timeline to getting therapeutics into children. The Elizabeth Sophia Foundation is actively tracking and supporting these pathways.

Active Treatment Pathways

We are currently monitoring up to five distinct treatment approaches for Sanfilippo Type C, including:

• Gene Therapy — The primary focus. Gene therapy offers the potential for a one-time treatment that addresses the root cause of the disease. Multiple programs are in development.
• Enzyme Replacement Therapy (ERT) — An ongoing direct treatment approach that can slow disease progression.
• Lentiviral Gene Therapy (Type C) — A distinct approach being developed by researchers in California.
• Emerging Approaches — We continue to evaluate additional pathways as they emerge from the scientific community.

Bridge Treatments

While curative treatments move through development, we are also investigating therapies that may slow progression and improve quality of life for children today — bridging families from where they are now to the time a clinical trial becomes available.

Our Role

The Foundation is actively building a network of Type C families, connecting them with researchers and clinical trial coordinators. One significant barrier to treatment development has been uncertainty about whether enough patients exist to make a treatment economically viable. We are working to demonstrate that the patient community is ready, organized, and eager to participate — removing that barrier for researchers and developers.

This page is updated as new information becomes available. For the latest, follow our blog or contact us directly.