Rocket Study: A Study to Characterize Biomarkers and Disease Progression in Participants With Pelizaeus-Merzbacher Disease

April 16, 2026 updated by: Ionis Pharmaceuticals, Inc.

Integrated Prospective and Retrospective Observational Study to Characterize Biomarkers and Disease Progression in Patients With Pelizaeus-Merzbacher Disease

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.

Study Overview

Status

Recruiting

Conditions

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).

Study Type

Observational

Enrollment (Estimated)

32

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • France
      • Clermont-Ferrand, France
        • Active, not recruiting
        • Ionis Investigative Site
      • Le Kremlin-Bicêtre, France, 94270
        • Active, not recruiting
        • Ionis Investigative Site
  • Germany
      • Göttingen, Germany
        • Active, not recruiting
        • Ionis Investigative Site
  • Israel
      • Tel Aviv, Israel, 6423906
        • Recruiting
        • Ionis Investigative Site
  • Italy
      • Milan, Italy, 20154
        • Recruiting
        • Ionis Investigative Site
  • Netherlands
      • Amsterdam, Netherlands, 1081 HV
        • Recruiting
        • Ionis Investigative Site
  • United Kingdom
      • Leeds, United Kingdom, LS1 3EX
        • Recruiting
        • Ionis Investigative Site
  • United States
    • Georgia
      • Atlanta, Georgia, United States, 30342
        • Recruiting
        • Ionis Investigative Site
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19104
        • Recruiting
        • Ionis Investigative Site

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

2 years to 4 years (Child)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Pelizaeus-Merzbacher disease participant population

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
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).

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Assess Longitudinal Changes in Fluid Biomarkers
Time Frame: Up to 26 months
Changes in Proteolipid Protein 1 (PLP1) in CSF and disease related biomarkers
Up to 26 months
Assess Longitudinal Changes in Neuroimaging Parameters
Time Frame: Up to 26 months
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
Time Frame: Up to 26 months
Includes collection of gross and fine motor outcomes, spasticity, dysphagia, cognition and behavior, and sleep.
Up to 26 months

Secondary Outcome Measures

Outcome Measure
Time Frame
Characterize health service utilization and economic and disease burden
Time Frame: Up to 26 months
Up to 26 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Ionis Pharmaceuticals, Inc.

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

October 3, 2022

Primary Completion (Estimated)

March 1, 2029

Study Completion (Estimated)

March 1, 2029

Study Registration Dates

First Submitted

November 22, 2022

First Submitted That Met QC Criteria

December 13, 2022

First Posted (Actual)

December 21, 2022

Study Record Updates

Last Update Posted (Actual)

April 17, 2026

Last Update Submitted That Met QC Criteria

April 16, 2026

Last Verified

April 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • NH00005

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

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/.

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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