A Study to Characterize Biomarkers and Disease Progression in Participants With Pelizaeus-Merzbacher Disease

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.

Inclusion Criteria: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 requirementsParticipant has a diagnosis of Pelizaeus-Merzbacher Disease with genetic confirmation of PLP1 duplicationMale, 6 months-8 years old, inclusive, at the time of informed consent and phenotype consistent with classic PMDNo contraindications for lumbar punctures (LPs), blood draws, neuroimaging, sedation (if necessary) or other study proceduresExclusion Criteria:Clinically significant abnormalities in medical history or physical examinationPhenotype consistent with Spastic Paraplegia Type 2 (SPG2)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