Investigating a new treatment for a rare childhood neurodegenerative disorder.
Evaluation of Clinical Outcome Assessment (COA) and Potential Biomarkers to Facilitate Interventional Trial for Mucopolysaccharidosis IIID Patients
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.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Phoenix Nest, INC. NIH-funded |
| Lab location | 1 site (Brooklyn, United States) |
| Project ID | NIH-10831385 on NIH RePORTER |
What this research studies
This research focuses on Mucopolysaccharidosis IIID, a rare neurodegenerative disorder that severely affects children's development and cognitive abilities. The team is exploring a novel enzyme replacement therapy (ERT) that delivers a specific enzyme directly into the brain to address the underlying causes of the disease. By infusing recombinant human alpha-N-acetylglucosamine-6-sulfatase (rhGNS) into the cerebroventricular space, the researchers aim to improve neurological outcomes and enhance the quality of life for affected patients. The study will involve careful monitoring of clinical outcomes and potential biomarkers to assess the therapy's effectiveness.
Who could benefit from this research
Good fit: Ideal candidates for this research are children diagnosed with Mucopolysaccharidosis IIID who are experiencing neurological symptoms.
Not a fit: Patients with other forms of Mucopolysaccharidosis or those without a confirmed diagnosis of MPS IIID may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could provide a groundbreaking treatment option for children suffering from Mucopolysaccharidosis IIID, potentially improving their neurological function and quality of life.
How similar studies have performed: There have been successful applications of enzyme replacement therapies in other forms of Mucopolysaccharidosis, indicating potential for success in this novel approach.
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.