The purpose of the study is to prospectively assess longitudinal changes in proteolipid protein 1 (PLP1) protein, disease-related biomarkers in cerebral spinal fluid (CSF) and blood, neuroimaging parameters relevant to Pelizaeus-Merzbacher disease (PMD) and longitudinal changes in performance on clinical, participant, and caregiver-reported outcome assessments to inform the development of therapies for PMD.
Participant has a parent or caregiver capable of providing informed consent (signed and dated) and able to attend all scheduled study visits and provide feedback regarding the participant's symptoms and performance as described in the protocol and be able to comply with all study requirements
Participant has a diagnosis of Pelizaeus-Merzbacher Disease with genetic confirmation of PLP1 duplication
Male, 6 months-17 years old, inclusive, at the time of informed consent and phenotype consistent with classic PMD
No contraindications for lumbar punctures (LPs), blood draws, neuroimaging, sedation (if necessary) or other study procedures
Clinically significant abnormalities in medical history or physical examination
> 2 copies of the PLP1 gene
Have any other conditions, which, in the opinion of the investigator would make the participant unsuitable for inclusion, or could interfere with the participant taking part in or completing the study
Pelizaeus-Merzbacher disease participant population
Cohort
Prospective
Not listed
Assess Longitudinal Changes in Fluid Biomarkers
Changes in Proteolipid Protein 1 (PLP1) in CSF and disease related biomarkers
Assess Longitudinal Changes in Neuroimaging Parameters
Changes in regional brain volumes (MRI) and in brain metabolites (MRS)
Assess longitudinal changes in performance on clinical, and patient and caregiver-reported outcome assessments
Includes collection of gross and fine motor outcomes, spasticity, dysphagia, cognition and behavior, and sleep.
Characterize health service utilization and economic and disease burden
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