Long-term tracking of leukodystrophy in children
Project 1: Longitudinal Natural History Studies of Leukodystrophies
This project follows children with leukodystrophies from before symptoms through treatment to track health changes and outcomes.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11172779 on NIH RePORTER |
What this research studies
You and your child would be invited to share medical history, regular health updates, and complete brief outcome measures that can be done remotely. Patient groups and clinicians help choose which symptoms and functions matter most, and the team will test remote ways to collect those clinical outcome measures so families do not always need in-person visits. The study will use electronic health records to find children identified early by newborn screening and to follow clinic visits, labs, and imaging over time. The goal is to describe how different leukodystrophies change across presymptomatic, symptomatic, and after-treatment phases to improve care.
Who could benefit from this research
Good fit: Children (including newborns identified by newborn screening) and families with a diagnosed leukodystrophy or known risk who can share medical records and participate in remote follow-up, roughly in the pediatric age range up to about 11 years.
Not a fit: People without leukodystrophy, adults outside the pediatric age range, or those unable to provide medical-record access or participate remotely are unlikely to receive direct benefit.
Why it matters
Potential benefit: If successful, this work could lead to better ways to measure outcomes, earlier intervention for affected children, and improved long-term follow-up care.
How similar studies have performed: Previous natural history and registry studies for certain leukodystrophies have informed screening and treatments, while the emphasis on patient-prioritized and remote clinical outcome measures is more novel.
Where this research is happening
Philadelphia, United States
- Children's Hosp of Philadelphia — Philadelphia, United States (Active)
Researchers
- Principal investigator: Vanderver, Adeline Lucie — Children's Hosp of Philadelphia
- Study coordinator: Vanderver, Adeline Lucie
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.