Rocket Study: A Study to Characterize Biomarkers and Disease Progression in Participants With Pelizaeus-Merzbacher Disease
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Pelizaeus-Merzbacher Disease. Basic parameters: 6 months — 17 years · Male.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States, France, Germany, Israel, Italy +2
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Integrated Prospective and Retrospective Observational Study to Characterize Biomarkers and Disease Progression in Patients With Pelizaeus-Merzbacher Disease
Overview
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).
Primary outcome measures
- Assess Longitudinal Changes in Fluid Biomarkers [Time frame: Up to 26 months]
- Assess Longitudinal Changes in Neuroimaging Parameters [Time frame: Up to 26 months]
- Assess longitudinal changes in performance on clinical, and patient and caregiver-reported outcome assessments [Time frame: Up to 26 months]
Secondary outcome measures (1)
- Characterize health service utilization and economic and disease burden [Time frame: Up to 26 months]
Eligibility criteria
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 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
Exclusion criteria
- Clinically significant abnormalities in medical history or physical examination
- > 2 copies of the PLP1 gene
- 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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
United States · 2 centers
- Ionis Investigative Site — Atlanta
- Ionis Investigative Site — Philadelphia
France · 2 centers
- Ionis Investigative Site — Clermont-Ferrand
- Ionis Investigative Site — Le Kremlin-Bicêtre
Germany · 1 center
- Ionis Investigative Site — Göttingen
Israel · 1 center
- Ionis Investigative Site — Tel Aviv
Italy · 1 center
- Ionis Investigative Site — Milan
Netherlands · 1 center
- Ionis Investigative Site — Amsterdam
United Kingdom · 1 center
- Ionis Investigative Site — Leeds
Identifiers
NCT: NCT05659901 · NH00005