Pelizaeus-Merzbacher DiseaseNCT05659901
Rocket Study: A Study to Characterize Biomarkers and Disease Progression in Participants With Pelizaeus-Merzbacher Disease
An observational study of Pelizaeus-Merzbacher Disease, run by Ionis Pharmaceuticals, Inc. at 10 sites in 7 countries.
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… Read more about this study
- Who is it for?
- Ages 6 months to 17 years, men only
- Conditions the study is for
- Pelizaeus-Merzbacher Disease
- How many people
- 32 participants
- Where
- 10 sitesin 7 countries
- Study dates
- 3 Oct 2022to Mar 2029
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 months to 17 years
- Men only
- No healthy volunteers
- Child
Study population: Pelizaeus-Merzbacher disease participant population
Who may be able to join
- 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
- Participant has a diagnosis of Pelizaeus-Merzbacher Disease with genetic confirmation of PLP1 duplication
- Male, 6 months-17 years old, inclusive, at the time of informed consent and phenotype consistent with classic PMD
- No contraindications for lumbar punctures (LPs), blood draws, neuroimaging, sedation (if necessary) or other study procedures
Who cannot join
- Clinically significant abnormalities in medical history or physical examination
- > 2 copies of the PLP1 gene
- 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
Trial locations and contacts
10 sites in 7 countries. Contact the study team or a site near you to ask about taking part.
10 sites in 7 countries
United States3 sites, 3 recruiting
- Recruiting
Ionis Investigative Site
Atlanta, Georgia, 30342
- Recruiting
Ionis Investigative Site
Baltimore, Maryland, 21205
- Recruiting
Ionis Investigative Site
Philadelphia, Pennsylvania, 19104
France2 sites
- Completed
Ionis Investigative Site
Clermont-Ferrand
- Active, not recruiting
Ionis Investigative Site
Le Kremlin-Bicêtre, 94270
Israel1 site, 1 recruiting
- Recruiting
Ionis Investigative Site
Tel Aviv, 6423906
Netherlands1 site, 1 recruiting
- Recruiting
Ionis Investigative Site
Amsterdam, 1081 HV
United Kingdom1 site, 1 recruiting
- Recruiting
Ionis Investigative Site
Leeds, LS1 3EX
About this study
Official title: Integrated Prospective and Retrospective Observational Study to Characterize Biomarkers and Disease Progression in Patients With Pelizaeus-Merzbacher Disease
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.
Read the 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).
- Conditions
- Pelizaeus-Merzbacher Disease
- Keywords
- PMD
- Medical subject headings
- Pelizaeus-Merzbacher Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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). |
What is being measured
The primary outcome is the main question the study is designed to answer.
Assess Longitudinal Changes in Fluid Biomarkers
Changes in Proteolipid Protein 1 (PLP1) in CSF and disease related biomarkers
Measured: Up to 26 months
Assess Longitudinal Changes in Neuroimaging Parameters
Changes in regional brain volumes (MRI) and in brain metabolites (MRS)
Measured: Up to 26 months
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.
Measured: Up to 26 months
Secondary outcomes (1)
Characterize health service utilization and economic and disease burden
Measured: Up to 26 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Dec 2022
- Study start3 Oct 2022
- Primary completionMar 2029 (estimated)
- Study completionMar 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Pelizaeus-Merzbacher DiseaseStudies of the same condition, open and under way.
- More trials run by Ionis Pharmaceuticals, Inc.The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 32 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Ionis Pharmaceuticals, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05659901
- Sponsor's protocol ID
- NH00005
- Status last verified
- Sep 2026
- First submitted
- 22 Nov 2022
- Last updated
- 2 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Ionis may share anonymized individual participant data, aggregated clinical data, and other types of data that support the results in this study. Data requests from qualified researchers will be considered once all three of the following criteria are met: (1) 12 months from marketing approval of the study drug in both the United States and European Union; (2) 18 months from conclusion of the study; and (3) 6 months from publication of study article. Access would be via a secure environment and is contingent upon approval of a research proposal and entry into an appropriate data use agreement. Requests to access data can be submitted via the website https://vivli.org/ourmember/ionis/.
Study at a glance
From the registry record, last updated by the sponsor on 2 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Integrated Prospective and Retrospective Observational Study to Characterize Biomarkers and Disease Progression in Patients With Pelizaeus-Merzbacher Disease
- ClinicalTrials.gov ID
- NCT05659901
- Acronym / sponsor ID
- NH00005
- Conditions
- Pelizaeus-Merzbacher Disease
- Keywords
- PMD
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 32 participants (estimated)
- Lead sponsor
- Ionis Pharmaceuticals, Inc.Industry (pharma, biotech, devices)
- Study start
- 3 Oct 2022 (actual)
- Primary completion
- Mar 2029 (estimated)
- Study completion
- Mar 2029 (estimated)
- First posted
- 21 Dec 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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).
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 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). |
Who may qualify
- Ages
- 6 months to 17 years
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Pelizaeus-Merzbacher disease participant population
Key inclusion criteria (4 listed)
- 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
- Participant has a diagnosis of Pelizaeus-Merzbacher Disease with genetic confirmation of PLP1 duplication
- Male, 6 months-17 years old, inclusive, at the time of informed consent and phenotype consistent with classic PMD
- No contraindications for lumbar punctures (LPs), blood draws, neuroimaging, sedation (if necessary) or other study procedures
Key exclusion criteria (3 listed)
- Clinically significant abnormalities in medical history or physical examination
- > 2 copies of the PLP1 gene
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Assess Longitudinal Changes in Fluid Biomarkers
Time frame: Up to 26 months
Changes in Proteolipid Protein 1 (PLP1) in CSF and disease related biomarkers
Assess Longitudinal Changes in Neuroimaging Parameters
Time frame: Up to 26 months
Changes in regional brain volumes (MRI) and in brain metabolites (MRS)
Assess longitudinal changes in performance on clinical, and patient and caregiver-reported outcome assessments
Time frame: Up to 26 months
Includes collection of gross and fine motor outcomes, spasticity, dysphagia, cognition and behavior, and sleep.
1 secondary outcome
Characterize health service utilization and economic and disease burden
Time frame: Up to 26 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Oct 2026.
- Individual participant dataSharing planned: Yes. Ionis may share anonymized individual participant data, aggregated clinical data, and other types of data that support the results in this study. Data requests from qualified researchers will be considered once all three of the following criteria are met: (1) 12 months from marketing approval of the study drug in both the United States and European Union; (2) 18 months from conclusion of the study; and (3) 6 months from publication of study article. Access would be via a secure environment and is contingent upon approval of a research proposal and entry into an appropriate data use agreement. Requests to access data can be submitted via the website https://vivli.org/ourmember/ionis/.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
10 sites in 7 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Pelizaeus-Merzbacher Disease, run by Ionis Pharmaceuticals, Inc. at 10 sites in 7 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 2 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 10 sites in United States, France, Germany, Israel, Italy and 2 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Ionis Pharmaceuticals ((844) 430-1848, IonisPelizaeusMerzbacherStudy@clinicaltrialmedia.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Assess Longitudinal Changes in Fluid Biomarkers (time frame: Up to 26 months). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Oct 2026.