Pelizaeus-Merzbacher Disease
Conditions
Keywords
PMD
Brief 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.
Detailed 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).
Interventions
None listed
Sponsors
Ionis Pharmaceuticals, Inc.
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
MALE
Age
6 Months to 17 Years
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), blood draws, neuroimaging, sedation (if necessary) or other study procedures
Exclusion criteria
1. Clinically significant abnormalities in medical history or physical examination 2. \> 2 copies of the PLP1 gene 3. 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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Assess Longitudinal Changes in Fluid Biomarkers | Up to 26 months | Changes in Proteolipid Protein 1 (PLP1) in CSF and disease related biomarkers |
| Assess Longitudinal Changes in Neuroimaging Parameters | Up to 26 months | 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 | Up to 26 months | Includes collection of gross and fine motor outcomes, spasticity, dysphagia, cognition and behavior, and sleep. |
Secondary
| Measure | Time frame |
|---|---|
| Characterize health service utilization and economic and disease burden | Up to 26 months |
Countries
France, Germany, Israel, Italy, Netherlands, United Kingdom, United States
Contacts
CONTACTIonis Pharmaceuticals
Outcome results
None listed