Understanding Morquio A disease and its effects on children
Non-invasive functional assessment and pathogenesis of Morquio A
This study is looking at how Morquio A disease affects kids' daily lives and health, using non-invasive methods to gather information, so we can find better ways to help manage their symptoms and improve their treatment.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Nemours Children's Hospital, Delaware NIH-funded |
| Lab location | 1 site (Wilmington, United States) |
| Project ID | NIH-11120885 on NIH RePORTER |
What this research studies
This research investigates Morquio A disease, a rare genetic disorder affecting children, caused by a deficiency in a specific enzyme. The study focuses on non-invasive methods to assess the disease's impact on daily activities and overall health. By analyzing medical data from a large patient registry, researchers aim to better understand the progression of the disease and its associated skeletal abnormalities. The findings could lead to improved treatment strategies and better management of symptoms for affected children.
Who could benefit from this research
Good fit: Ideal candidates for this research are children under 11 years old diagnosed with Morquio A disease.
Not a fit: Patients with other unrelated genetic disorders or those over the age of 11 may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to enhanced treatment options and improved quality of life for children with Morquio A disease.
How similar studies have performed: Previous research on similar genetic disorders has shown promising results in understanding disease mechanisms and improving patient outcomes.
Where this research is happening
Wilmington, United States
- Nemours Children's Hospital, Delaware — Wilmington, United States (Active)
Researchers
- Principal investigator: Tomatsu, Shunji — Nemours Children's Hospital, Delaware
- Study coordinator: Tomatsu, Shunji
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.