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

Last updated: January 27, 2025
Sponsor: Ionis Pharmaceuticals, Inc.
Overall Status: Active - Recruiting

Phase

N/A

Condition

N/A

Treatment

N/A

Clinical Study ID

NCT05659901
NH00005
  • Ages 6-17
  • Male

Study 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.

Eligibility Criteria

Inclusion

Inclusion Criteria:

  1. Participant has a parent or caregiver capable of providing informed consent (signedand dated) and able to attend all scheduled study visits and provide feedbackregarding the participant's symptoms and performance as described in the protocoland be able to comply with all study requirements

  2. Participant has a diagnosis of Pelizaeus-Merzbacher Disease with geneticconfirmation of PLP1 duplication

  3. Male, 6 months-17 years old, inclusive, at the time of informed consent andphenotype consistent with classic PMD

  4. No contraindications for lumbar punctures (LPs), blood draws, neuroimaging, sedation (if necessary) or other study procedures

Exclusion

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 theparticipant unsuitable for inclusion, or could interfere with the participant takingpart in or completing the study

Study Design

Total Participants: 32
Study Start date:
October 03, 2022
Estimated Completion Date:
March 31, 2029

Study 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).

Connect with a study center

  • Ionis Investigative Site

    Parkville,
    Australia

    Active - Recruiting

  • Ionis Investigative Site

    Clermont-Ferrand,
    France

    Active - Recruiting

  • Ionis Investigative Site

    Le Kremlin-Bicêtre, 94270
    France

    Active - Recruiting

  • Ionis Investigative Site

    Paris,
    France

    Site Not Available

  • Ionis Investigative Site

    Göttingen,
    Germany

    Active - Recruiting

  • Ionis Investigative Site

    Amsterdam, 1081 HV
    Netherlands

    Active - Recruiting

  • Vumc Research

    Amsterdam, 1081 HV
    Netherlands

    Active - Recruiting

Not the study for you?

Let us help you find the best match. Sign up as a volunteer and receive email notifications when clinical trials are posted in the medical category of interest to you.