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.
Similar studies
Other trials that look related to this one.
This trial is testing an experimental drug (ION356) given by a lumbar puncture to see if it is safe and how it works in boys with Pelizaeus Merzbacher disease (PMD). The drug is designed to target the genetic cause of PMD.
This trial follows people with genetic neurodegenerative (brain-wasting) disorders over time to better understand how the condition changes. The goal is to learn patterns that could help future treatments or care plans.
This study is building a large, detailed group of people—some with Parkinson’s and some at higher risk—to understand early changes over time. It uses brain imaging (DaTscan SPECT), sometimes spinal fluid tests (lumbar puncture), and genetic information to help researchers better measure disease and develop future treatments.
This study follows people of all ages with a confirmed POLG-related disease to learn how the condition changes over time. The information collected may help design better care and future treatments.
This study is for people who already completed a previous trial of GLM101 for PMM2-CDG. It offers continued access to the treatment while doctors monitor safety and effects.
This study aims to learn more about rare disorders of purine and pyrimidine metabolism (DPPM), which can affect the brain, immune system, kidneys, and muscles. Researchers will study people with these disorders, their family members, and healthy volunteers to better understand the condition over time.
Hear when a new Pelizaeus-Merzbacher Disease trial opens
We’ll email you when one opens — at most once a week, no account needed, unsubscribe anytime.