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NCT05659901Recruiting

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

Ionis Pharmaceuticals, Inc.

Start Date

10/3/2022

Completion Date

3/1/2029

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).

Eligibility Criteria

Age Range: No minimum to 17 years

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

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Conditions

Pelizaeus-Merzbacher Disease

Locations

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