Creating a new scale to measure the severity of Pelizaeus Merzbacher Disease
Official title: Design and Validation of a Pelizaeus Merzbacher Disease (PMD) Severity Scale
Funded at Children's Hosp of Philadelphia · NIH-10953904 · Data updated 2026-11-12
This study is working on a new way to measure how serious Pelizaeus Merzbacher Disease is for patients, so doctors can better understand the condition and improve care, especially for younger patients.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | September 1, 2024 |
| Project end | August 31, 2026 |
| Funding year | 2024 |
| Award (this year) | $178,000 |
| NIH project number | 1R03HD116194-01 |
| Project ID | NIH-10953904 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Pelizaeus Merzbacher Disease, particularly those at various stages of the condition.
✕Less likely to help
Patients with other neurological disorders or those without a diagnosis of Pelizaeus Merzbacher Disease may not benefit from this research.
What this research studies
This research focuses on developing a new severity scale for Pelizaeus Merzbacher Disease (PMD), a rare genetic disorder affecting the nervous system. The team will collect detailed data on patients' medical histories, including the age of onset and key medical events, to better classify the severity of the disease. By using this information, they aim to create a more accurate tool that can help in clinical trials and improve patient care. This new scale will address current limitations in existing measures that do not adequately reflect disease severity in young patients.
Why it matters
Potential benefit: If successful, this research could lead to more accurate assessments of PMD severity, improving treatment options and clinical trial participation for affected individuals.
How similar studies have gone: Previous research has shown success in developing clinical tools for other rare diseases, indicating potential for this approach in PMD.
Where this research is happening
-
Children's Hosp of Philadelphia
Philadelphia, United States Active
Researchers
- Principal investigator: Gavazzi, Francesco — Children's Hosp of Philadelphia
- Study coordinator: Gavazzi, Francesco
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.