Characterizing biomarkers and disease progression in Pelizaeus-Merzbacher Disease
Official title: Integrated Prospective and Retrospective Observational Study to Characterize Biomarkers and Disease Progression in Patients With Pelizaeus-Merzbacher Disease
Run by Ionis Pharmaceuticals, Inc. · NCT05659901 · Data updated 2026-11-12
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 |
|---|---|
| Ages | 6 Months to 17 Years |
| Sex | Men only |
| Enrollment | 32 (estimated) |
| Sponsor | Ionis Pharmaceuticals, Inc. Industry-sponsored |
| Locations | 10 sites (Atlanta, Georgia and 9 other locations) |
| Status | Recruiting |
| Started | October 3, 2022 |
| Main results expected | March 2029 |
| Study ends | March 2029 |
| Registry record updated | November 2, 2026 |
| Trial ID | NCT05659901 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a 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.
✕Probably not a fit
Patients with significant medical abnormalities or more than two copies of the PLP1 gene may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: While this approach is focused on a specific condition, similar studies assessing biomarkers in other neurological diseases have shown promise in informing treatment strategies.
Who can join: the full rules
Show full inclusion / exclusion 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 it's running
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Ionis Investigative Site
Atlanta, Georgia, United States Recruiting -
Ionis Investigative Site
Baltimore, Maryland, United States Recruiting -
Ionis Investigative Site
Philadelphia, Pennsylvania, United States Recruiting -
Ionis Investigative Site
Tel Aviv, Israel Recruiting -
Ionis Investigative Site
Milan, Italy Recruiting -
Ionis Investigative Site
Amsterdam, Netherlands Recruiting
Show 4 more locations
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Ionis Investigative Site
Leeds, United Kingdom Recruiting -
Ionis Investigative Site
Clermont-Ferrand, France Completed -
Ionis Investigative Site
Le Kremlin-Bicêtre, France Active not recruiting -
Ionis Investigative Site
Göttingen, Germany Completed
Study contacts
- Study coordinator: Ionis Pharmaceuticals
- Email: IonisPelizaeusMerzbacherStudy@clinicaltrialmedia.com
- Phone: (844) 430-1848
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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Evaluating a new treatment for Pelizaeus-Merzbacher Disease in children
This study is testing a new drug called ION356 to see if it is safe and tolerable for children with Pelizaeus-Merzbacher Disease who have a specific genetic change.
-
Long-term observation of rare genetic brain disorders
This study is tracking how rare genetic brain disorders progress over time to better understand their effects on patients.
-
Collecting data and samples from patients with leukodystrophy
This study is collecting health information and samples from people with leukodystrophy to help find new causes and better treatments for the condition.
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Using umbilical cord blood cells to treat inherited metabolic diseases
This study is testing if a new treatment using special cells from umbilical cord blood can help people with inherited metabolic diseases and early signs of nerve damage feel better when combined with standard cord blood transplants.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.