Understanding and treating nerve problems in children with Sanfilippo Syndrome
Characterizing and treating peripheral nervous system dysfunction in Sanfilippo Syndrome
This study is looking at how Sanfilippo Syndrome Type A affects the nerves in children, with the goal of finding new ways to help improve their symptoms and quality of life.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Georgia NIH-funded |
| Lab location | 1 site (Athens, United States) |
| Project ID | NIH-11058182 on NIH RePORTER |
What this research studies
This research focuses on Sanfilippo Syndrome Type A, a rare genetic disorder affecting children, which leads to severe neurological issues due to the body's inability to break down certain sugars. The study aims to explore the dysfunction of the peripheral nervous system in these patients, which has been largely overlooked in previous research. By investigating the molecular mechanisms behind nerve degeneration, the researchers hope to identify potential therapeutic approaches to alleviate symptoms and improve quality of life for affected children. The research will involve both clinical assessments and laboratory studies to better understand the disease's impact on the nervous system.
Who could benefit from this research
Good fit: Ideal candidates for this research are children diagnosed with Sanfilippo Syndrome Type A, particularly those experiencing neurological symptoms.
Not a fit: Patients with other forms of Sanfilippo Syndrome or those without neurological symptoms may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that improve nerve function and overall health in children with Sanfilippo Syndrome.
How similar studies have performed: While research on Sanfilippo Syndrome has primarily focused on the central nervous system, this investigation into peripheral nervous system dysfunction is a novel approach that has not been extensively studied.
Where this research is happening
Athens, United States
- University of Georgia — Athens, United States (Active)
Researchers
- Principal investigator: Weiss, Ryan Joseph — University of Georgia
- Study coordinator: Weiss, Ryan Joseph
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.