Rocket Study: A Study to Characterize Biomarkers and Disease Progression in Participants With Pelizaeus-Merzbacher Disease
Integrated Prospective and Retrospective Observational Study to Characterize Biomarkers and Disease Progression in Patients With Pelizaeus-Merzbacher Disease
1 other identifier
observational
32
7 countries
9
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P25-P50 for all trials
Started Oct 2022
Longer than P75 for all trials
9 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
October 3, 2022
CompletedFirst Submitted
Initial submission to the registry
November 22, 2022
CompletedFirst Posted
Study publicly available on registry
December 21, 2022
CompletedPrimary Completion
Last participant's last visit for primary outcome
March 1, 2029
ExpectedStudy Completion
Last participant's last visit for all outcomes
March 1, 2029
April 17, 2026
April 1, 2026
6.4 years
November 22, 2022
April 16, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (3)
Assess Longitudinal Changes in Fluid Biomarkers
Changes in Proteolipid Protein 1 (PLP1) in CSF and disease related biomarkers
Up to 26 months
Assess Longitudinal Changes in Neuroimaging Parameters
Changes in regional brain volumes (MRI) and in brain metabolites (MRS)
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.
Up to 26 months
Secondary Outcomes (1)
Characterize health service utilization and economic and disease burden
Up to 26 months
Study Arms (1)
Pelizaeus-Merzbacher Disease Participants
Participants will undergo CSF collection and neuroimaging procedures, up to Week 106 as a part of prospective study. Each participant's medical and family history data will be collected retrospectively from available medical notes and charts, from birth up to the end of the study period (up to 26 months).
Eligibility Criteria
Pelizaeus-Merzbacher disease participant population
You may qualify if:
- 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
You may not qualify if:
- Clinically significant abnormalities in medical history or physical examination
- \> 2 copies of the PLP1 gene
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (9)
Ionis Investigative Site
Atlanta, Georgia, 30342, United States
Ionis Investigative Site
Philadelphia, Pennsylvania, 19104, United States
Ionis Investigative Site
Clermont-Ferrand, France
Ionis Investigative Site
Le Kremlin-Bicêtre, 94270, France
Ionis Investigative Site
Göttingen, Germany
Ionis Investigative Site
Tel Aviv, 6423906, Israel
Ionis Investigative Site
Milan, 20154, Italy
Ionis Investigative Site
Amsterdam, 1081 HV, Netherlands
Ionis Investigative Site
Leeds, LS1 3EX, United Kingdom
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- INDUSTRY
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
November 22, 2022
First Posted
December 21, 2022
Study Start
October 3, 2022
Primary Completion (Estimated)
March 1, 2029
Study Completion (Estimated)
March 1, 2029
Last Updated
April 17, 2026
Record last verified: 2026-04
Data Sharing
- IPD Sharing
- Will share
Ionis may share anonymized individual participant data, aggregated clinical data, and other types of data that support the results in this study. Data requests from qualified researchers will be considered once all three of the following criteria are met: (1) 12 months from marketing approval of the study drug in both the United States and European Union; (2) 18 months from conclusion of the study; and (3) 6 months from publication of study article. Access would be via a secure environment and is contingent upon approval of a research proposal and entry into an appropriate data use agreement. Requests to access data can be submitted via the website https://vivli.org/ourmember/ionis/.