Creating a gene therapy for Sanfilippo Syndrome Type C
Official title: Development of Gene Replacement Therapy for Sanfilippo Syndrome Type C
Funded at Phoenix Nest, INC. · NIH-10706562 · Data updated 2026-11-12
This study is testing a new gene therapy for people with Sanfilippo Syndrome Type C, a rare condition that affects the brain, to see if it can help by fixing the genetic problem that causes the disease and improve their quality of life.
Quick facts
| Grant type | Sbir 2 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Phoenix Nest, INC. NIH-funded |
| Lab location | 1 site (Brooklyn, United States) |
| Project start | September 19, 2022 |
| Project end | August 31, 2025 |
| Funding year | 2023 |
| Award (this year) | $1,494,895 |
| NIH project number | 5R44NS129393-02 |
| Project ID | NIH-10706562 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Sanfilippo Syndrome Type C, particularly children and young adults who are experiencing the early symptoms of the disease.
✕Less likely to help
Patients with other types of lysosomal storage diseases or those who are not diagnosed with Sanfilippo Syndrome Type C may not benefit from this research.
What this research studies
This research focuses on developing a gene replacement therapy for Sanfilippo Syndrome Type C, a rare lysosomal storage disease caused by a deficiency in a specific enzyme. The approach aims to address the underlying genetic defect by delivering a functional copy of the gene responsible for producing the enzyme, which is crucial for breaking down certain carbohydrates in the body. Patients with this condition experience severe neurological decline, and current treatments only provide supportive care. The research seeks to provide a long-term therapeutic option that could significantly improve the quality of life for affected individuals.
Why it matters
Potential benefit: If successful, this research could offer a groundbreaking treatment option that may halt or reverse the neurological decline associated with Sanfilippo Syndrome Type C.
How similar studies have gone: While gene therapy for lysosomal storage diseases is a relatively novel approach, there have been promising results in similar conditions, indicating potential for success in this area.
Where this research is happening
-
Phoenix Nest, INC.
Brooklyn, United States Active
Researchers
- Principal investigator: Singamsetty, Srikanth — Phoenix Nest, INC.
- Study coordinator: Singamsetty, Srikanth
Related research
Other NIH-funded projects on the same topics.
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Gene therapy manufacturing and testing for a rare brain disease (MPS IIIC) to help affected children
A NIH-funded project aims to develop and refine the manufacturing and analytical processes for a gene therapy intended to help children with MPS IIIC, a rare and progressive neurological disease.
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Biomarkers and clinical tools for Sanfilippo syndrome type C (MPS IIIC)
Create new lab tests and clinical tools to help detect and follow MPS IIIC (Sanfilippo type C) in affected children and adults.
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Investigating treatments for a rare childhood brain disorder called MPS IIID.
This study is looking at a new treatment for Mucopolysaccharidosis IIID, a rare condition that affects how children's brains develop, and it aims to help improve their quality of life by delivering a special enzyme directly into the brain.
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Investigating a new treatment for a rare childhood neurodegenerative disorder.
This study is testing a new treatment that delivers a special enzyme directly into the brain to help children with Mucopolysaccharidosis IIID, a rare condition that affects their development and thinking skills, with the hope of improving their health and quality of life.
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.