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

Recruiting

• Conditions: Pelizaeus-Merzbacher Disease

• Registration Number: NCT05659901
• Lead Sponsor: Ionis Pharmaceuticals, Inc.

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).

Study Timeline

• Study Start: 2022-10-03
• Study First Submitted: 2022-11-22
• Study First Submitted QC: 2022-12-13
• Study First Posted: 2022-12-21
• Status Verified: 2025-01
• Last Update Submitted: 2025-01-27
• Last Update Posted: 2025-01-29
• Primary Completion: 2029-03
• Study Completion: 2029-03

Recruitment & Eligibility

• Status: RECRUITING
• Sex: Male
• Target Recruitment: 32

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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 Outcome Measures

Name	Time	Method
Characterize health service utilization and economic and disease burden	Up to 26 months

Trial Locations

Locations (1)

Ionis Investigative Site; 🇳🇱 Amsterdam, Netherlands