Myelin Research Identifies PMD Subgroups
Medical researchers studying emerging therapeutic approaches to help treat Pelizaeus-Merzbacher Disease (PMD) have announced the development of a system to identify distinct clinical cohorts and biomarkers for the grading of severity and progression of the disease.
Data Collected in Natural History Study Helps Identify Biomarkers
The data collected for the research comes from a registry of those affected by PMD called the Natural History Study. The initiative was spearheaded by the PMD Foundation in partnership with the Children’s Hospital of Philadelphia and an international consortium of leukodystrophy clinicians and researchers.
The registry has enrolled over 2,000 individuals with various leukodystrophies since it was founded by Dr. Adeline Vanderver, MD.
Myelin Protects Axons to Communicate Impulse Throughout the Body
Medical researchers focused on myelin, the protective coating on axons, which allows an impulse to get from one neuron to another. In a person with PMD, as the impulse tries to make its way across the axon, it leaks out where there is no myelin. This results in little, if any, impulse making it to the next neuron in the chain.
Researchers noted the clinical spectrum of PMD “ranges between severe neonatal onset and a relatively stable presentation with later onset and mainly lower limb spasticity. In view of emerging treatment options and in order to grade severity and progression, we developed a PMD myelination score.”
Researchers Have Codified the Degree of Myelin Deficit and Atrophy
The MRI severity scores proposed by researchers will assist medical professionals to assess the degree of myelin deficit and atrophy. The scores will allow for the stratification of patients and standardized assessment of follow-up.