Creating a gene therapy for Sanfilippo Syndrome Type C
Development of Gene Replacement Therapy for Sanfilippo Syndrome Type C
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 ID | NIH-10706562 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: 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.
Not a fit: 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.
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 performed: 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
Brooklyn, United States
- Phoenix Nest, INC. — Brooklyn, United States (Active)
Researchers
- Principal investigator: Singamsetty, Srikanth — Phoenix Nest, INC.
- Study coordinator: Singamsetty, Srikanth
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 below.