Clinical trial NCT05659901: Rocket Study: A Study to Characterize Biomarkers and Disease Progression in Participants With Pelizaeus-Merzbacher Disease
Official title: Integrated Prospective and Retrospective Observational Study to Characterize Biomarkers and Disease Progression in Patients With Pelizaeus-Merzbacher Disease
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Pelizaeus-Merzbacher Disease
Keywords: PMD
Lead sponsor: Ionis Pharmaceuticals, Inc.
Sponsor class: INDUSTRY
First posted: 2022-12-21
Enrollment: 32
Sex: MALE
Minimum age (years): 6
Maximum age (years): 17
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Pelizaeus-Merzbacher disease participant population

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).

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

Primary outcomes:
measure: Assess Longitudinal Changes in Fluid Biomarkers
timeFrame: Up to 26 months
measure: Assess Longitudinal Changes in Neuroimaging Parameters
timeFrame: Up to 26 months
measure: Assess longitudinal changes in performance on clinical, and patient and caregiver-reported outcome assessments
timeFrame: Up to 26 months
Secondary outcomes:
measure: Characterize health service utilization and economic and disease burden
timeFrame: Up to 26 months
Other outcomes:
Locations:
city: Clermont-Ferrand
country: France
facility: Ionis Investigative Site
city: Le Kremlin-Bicêtre
country: France
facility: Ionis Investigative Site
city: Göttingen
country: Germany
facility: Ionis Investigative Site
city: Amsterdam
country: Netherlands
facility: Ionis Investigative Site
Study officials:
References: