Trial Review

Registering a new trial?

To achieve prospective registration, we recommend submitting your trial for registration at the same time as ethics submission.

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been endorsed by the ANZCTR. Before participating in a study, talk to your health care provider and refer to this information for consumers
Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/study/NCT05659901




Registration number
NCT05659901
Ethics application status
Date submitted
22/11/2022
Date registered
21/12/2022
Date last updated
6/11/2024

Titles & IDs
Public title
A Study to Characterize Biomarkers and Disease Progression in Participants With Pelizaeus-Merzbacher Disease
Scientific title
Integrated Prospective and Retrospective Observational Study to Characterize Biomarkers and Disease Progression in Patients With Pelizaeus-Merzbacher Disease
Secondary ID [1] 0 0
NH00005
Universal Trial Number (UTN)
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Pelizaeus-Merzbacher Disease 0 0
Condition category
Condition code
Neurological 0 0 0 0
Neurodegenerative diseases
Neurological 0 0 0 0
Other neurological disorders

Intervention/exposure
Study type
Observational
Patient registry
Target follow-up duration
Target follow-up type
Description of intervention(s) / exposure
Pelizaeus-Merzbacher Disease Participants - Participants will undergo CSF collection and neuroimaging procedures, up to Week 106 as a part of prospective study. Each participant's medical and family history data will be collected retrospectively from available medical notes and charts, from birth up to the end of the study period (up to 26 months).
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
Assess Longitudinal Changes in Fluid Biomarkers
Timepoint [1] 0 0
Up to 26 months
Primary outcome [2] 0 0
Assess Longitudinal Changes in Neuroimaging Parameters
Timepoint [2] 0 0
Up to 26 months
Primary outcome [3] 0 0
Assess longitudinal changes in performance on clinical, and patient and caregiver-reported outcome assessments
Timepoint [3] 0 0
Up to 26 months
Secondary outcome [1] 0 0
Characterize health service utilization and economic and disease burden
Timepoint [1] 0 0
Up to 26 months

Eligibility
Key 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
Minimum age
6 Months
Maximum age
10 Years
Sex
Males
Can healthy volunteers participate?
No
Key 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

Study design
Purpose
Duration
Selection
Timing
Prospective
Statistical methods / analysis

Recruitment
Recruitment status
Recruiting
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
3/10/2022
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
1/08/2025
Actual
Sample size
Target
20
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)
Recruitment hospital [1] 0 0
Ionis Investigative Site - Parkville
Recruitment postcode(s) [1] 0 0
- Parkville
Recruitment outside Australia
Country [1] 0 0
France
State/province [1] 0 0
Clermont-Ferrand
Country [2] 0 0
France
State/province [2] 0 0
Le Kremlin-Bicêtre
Country [3] 0 0
France
State/province [3] 0 0
Paris
Country [4] 0 0
Germany
State/province [4] 0 0
Göttingen
Country [5] 0 0
Netherlands
State/province [5] 0 0
Amsterdam

Funding & Sponsors
Primary sponsor type
Commercial sector/industry
Name
Ionis Pharmaceuticals, Inc.
Address
Country

Ethics approval
Ethics application status

Summary
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.
Trial website
https://clinicaltrials.gov/study/NCT05659901
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 0 0
Address 0 0
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Ionis Pharmaceuticals
Address 0 0
Country 0 0
Phone 0 0
(844) 430-1848
Fax 0 0
Email 0 0
[email protected]
Contact person for scientific queries



Summary Results

For IPD and results data, please see https://clinicaltrials.gov/study/NCT05659901