Gene therapy for a rare neurological disorder called Sialidosis
Official title: AAV Gene Therapy for Sialidosis: from Mice to IND
Funded at Univ of Massachusetts Med Sch Worcester · NIH-11146706 · Data updated 2026-11-12
This study is working on a new gene therapy for Sialidosis, a rare condition caused by a problem with the NEU1 gene, and aims to safely deliver a healthy version of this gene to help improve the lives of those affected.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Univ of Massachusetts Med Sch Worcester NIH-funded |
| Lab location | 1 site (Worcester, United States) |
| Project start | August 1, 2024 |
| Project end | May 31, 2029 |
| Funding year | 2025 |
| Award (this year) | $654,844 |
| NIH project number | 5R01NS139268-02 |
| Project ID | NIH-11146706 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with Sialidosis, particularly those with severe symptoms such as developmental delays, seizures, and vision loss.
✕Less likely to help
Patients with other neurological disorders or those who do not have Sialidosis may not benefit from this research.
What this research studies
This research focuses on developing a gene therapy for Sialidosis, a rare lysosomal storage disorder caused by mutations in the NEU1 gene. The team has created several adeno-associated virus (AAV) constructs designed to deliver the functional NEU1 gene to affected cells. These constructs have been tested in animal models to assess their safety and effectiveness. If successful, this therapy could provide a new treatment option for patients suffering from this debilitating condition.
Why it matters
Potential benefit: If successful, this research could lead to a groundbreaking treatment for Sialidosis, potentially improving the quality of life and extending survival for affected patients.
How similar studies have gone: Previous research using gene therapy for other lysosomal storage disorders has shown promising results, indicating potential for success in this novel approach.
Where this research is happening
-
Univ of Massachusetts Med Sch Worcester
Worcester, United States Active
Researchers
- Principal investigator: Gray-Edwards, Heather L — Univ of Massachusetts Med Sch Worcester
- Study coordinator: Gray-Edwards, Heather L
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.