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

Pelizaeus-Merzbacher Disease Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05659901
• Other study ID #: NH00005
• Status: Recruiting
• Start date: October 3, 2022
• Est. completion date: August 2025

Study information

• Verified date: March 2024
• Source: Ionis Pharmaceuticals, Inc.
• Contact: Ionis Pharmaceuticals
• Phone: (844) 430-1848
• Email: IonisPelizaeusMerzbacherStudy[@]clinicaltrialmedia.com
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Description:

This is a multi-center, non-randomized, non-interventional integrated prospective and retrospective study in up to 20 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).

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 20
• Est. completion date: August 2025
• Est. primary completion date: August 2025
• Accepts healthy volunteers: No
• Gender: Male
• Age group: 6 Months to 10 Years

Eligibility

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-8 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. Phenotype consistent with Spastic Paraplegia Type 2 (SPG2)

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

Related Conditions & MeSH terms

• Disease Progression
• Pelizaeus-Merzbacher Disease

Locations

Country	Name	City	State
Australia	Ionis Investigative Site	Parkville
France	Ionis Investigative Site	Clermont-Ferrand
France	Ionis Investigative Site	Le Kremlin-Bicêtre
France	Ionis Investigative Site	Paris
Germany	Ionis Investigative Site	Göttingen
Netherlands	Ionis Investigative Site	Amsterdam

Sponsors (1)

Lead Sponsor	Collaborator
Ionis Pharmaceuticals, Inc.

Countries where clinical trial is conducted

Australia,  France,  Germany,  Netherlands, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Assess Longitudinal Changes in Fluid Biomarkers	Changes in Proteolipid Protein 1 (PLP1) in CSF and disease related biomarkers	Up to 26 months
Primary	Assess Longitudinal Changes in Neuroimaging Parameters	Changes in regional brain volumes (MRI) and in brain metabolites (MRS)	Up to 26 months
Primary	Assess longitudinal changes in performance on clinical, and patient and caregiver-reported outcome assessments	Includes collection of gross and fine motor outcomes, spasticity, dysphagia, cognition and behavior, and sleep.	Up to 26 months
Secondary	Characterize health service utilization and economic and disease burden		Up to 26 months