Characterizing biomarkers and disease progression in Pelizaeus-Merzbacher Disease

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

This study is trying to see how certain markers in the body change over time in people with Pelizaeus-Merzbacher Disease to help develop better treatments in the future.

Quick facts

• Study type: Observational
• Enrollment: 32 (estimated)
• Ages: 6 Months to 17 Years
• Sex: Male
• Sponsor: Ionis Pharmaceuticals, Inc. (industry)
• Locations: 9 sites (Atlanta, Georgia and 8 other locations)
• Trial ID: NCT05659901 on ClinicalTrials.gov

What this trial studies

This observational study aims to assess changes in biomarkers related to Pelizaeus-Merzbacher Disease (PMD) over time. It will involve up to 32 participants who will undergo procedures such as lumbar punctures and neuroimaging to collect cerebrospinal fluid and blood samples. The study will track clinical assessments and participant-reported outcomes over approximately 26 months to support the development of future therapies for PMD.

Who should consider this trial

Good fit: Ideal candidates are males aged 6 months to 17 years with a genetic confirmation of PLP1 duplication and a diagnosis of classic PMD.

Not a fit: Patients with significant medical abnormalities or more than two copies of the PLP1 gene may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved understanding and treatment options for patients with Pelizaeus-Merzbacher Disease.

How similar studies have performed: While this approach is focused on a specific condition, similar studies assessing biomarkers in other neurological diseases have shown promise in informing treatment strategies.

Eligibility criteria

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

Where this trial is running

Atlanta, Georgia and 8 other locations

• Ionis Investigative Site — Atlanta, Georgia, United States (RECRUITING)
• Ionis Investigative Site — Philadelphia, Pennsylvania, United States (RECRUITING)
• Ionis Investigative Site — Clermont-Ferrand, France (ACTIVE_NOT_RECRUITING)
• Ionis Investigative Site — Le Kremlin-Bicêtre, France (ACTIVE_NOT_RECRUITING)
• Ionis Investigative Site — Göttingen, Germany (ACTIVE_NOT_RECRUITING)
• Ionis Investigative Site — Tel Aviv, Israel (RECRUITING)
• Ionis Investigative Site — Milan, Italy (RECRUITING)
• Ionis Investigative Site — Amsterdam, Netherlands (RECRUITING)
• Ionis Investigative Site — Leeds, United Kingdom (RECRUITING)

Study contacts

• Study coordinator: Ionis Pharmaceuticals

Conditions: Pelizaeus-Merzbacher Disease, PMD