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.
This is a multi-center, non-randomized, non-interventional integrated prospective and retrospective study in up to 32 participants with PMD who can undergo general anesthesia or conscious sedation (if necessary) to collect fluid biomarkers (CSF and blood), neuroimaging, and clinical assessments to be used in support of the development of therapies for PMD. The study duration for each participant will be approximately 26 months (Week 106).
Study Type
OBSERVATIONAL
Enrollment
32
Ionis Investigative Site
Philadelphia, Pennsylvania, United States
RECRUITINGIonis Investigative Site
Clermont-Ferrand, France
RECRUITINGIonis Investigative Site
Le Kremlin-Bicêtre, France
Assess Longitudinal Changes in Fluid Biomarkers
Changes in Proteolipid Protein 1 (PLP1) in CSF and disease related biomarkers
Time frame: Up to 26 months
Assess Longitudinal Changes in Neuroimaging Parameters
Changes in regional brain volumes (MRI) and in brain metabolites (MRS)
Time frame: Up to 26 months
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.
Time frame: Up to 26 months
Characterize health service utilization and economic and disease burden
Time frame: Up to 26 months
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Ionis Investigative Site
Göttingen, Germany
ACTIVE_NOT_RECRUITINGIonis Investigative Site
Tel Aviv, Israel
RECRUITINGIonis Investigative Site
Milan, Italy
RECRUITINGIonis Investigative Site
Amsterdam, Netherlands
RECRUITING