Study tracks symptoms and test results in PLP1-confirmed PMD
Part of Brain & nervous system, Genetic & congenital, Hormones & metabolism clinical trials.
This study follows children with Pelizaeus-Merzbacher disease (PMD) who have a specific genetic change (PLP1 duplication). It aims to learn which body measurements (“biomarkers”) and symptoms change over time, to better understand disease progression.
Summary written for real people, not researchers, by Clin2.
Who can take part
- A parent or caregiver must be able to sign consent, attend visits, and share symptom updates
- The child must have PMD with genetic proof of a PLP1 duplication
- The child must be male and between 6 months and 17 years old when enrolling
- The child must be able to safely do study procedures like blood draws, lumbar punctures (spinal fluid), scans, and possibly sedation
- There should be no major health or exam findings that would make the study unsafe or difficult
- The child should not have more than two copies of the PLP1 gene
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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