Integrated Prospective and Retrospective Observational Study to Characterize Biomarkers and Disease Progression in Patients With Pelizaeus-Merzbacher Disease
Ionis Pharmaceuticals, Inc.
Summary
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.
Description
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).
Eligibility
- Age range
- 0–17 years
- Sex
- Male
- Healthy volunteers
- No
Inclusion Criteria: 1. 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 2. Participant has a diagnosis of Pelizaeus-Merzbacher Disease with genetic confirmation of PLP1 duplication 3. Male, 6 months-17 years old, inclusive, at the time of informed consent and phenotype consistent with classic PMD 4. No contraindications for lumbar punctures (LPs), bloo…
Locations (9)
- Ionis Investigative SiteAtlanta, Georgia
- Ionis Investigative SitePhiladelphia, Pennsylvania
- Ionis Investigative SiteClermont-Ferrand
- Ionis Investigative SiteLe Kremlin-Bicêtre
- Ionis Investigative SiteGöttingen
- Ionis Investigative SiteTel Aviv