Den här översättningen är inte klar ännu. Den här sidan är just nu på engelska.

Gå till den engelska sidan

Cure My Disease

Don't miss your cure!

 Log in / Sign up

New study aims to unlock secrets of rare brain disease in children

NCT ID NCT05659901

Knowledge-focused Sponsor: Ionis Pharmaceuticals, Inc. Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This observational study is following 32 boys aged 6 months to 17 years with Pelizaeus-Merzbacher disease (PMD), a rare genetic disorder affecting the brain's white matter. Researchers are measuring biomarkers in spinal fluid and blood, brain scans, and motor and cognitive skills over time. The goal is to better understand how PMD progresses, which could help develop future treatments.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If successful, this study could identify key markers of PMD progression, helping researchers design better treatments for this rare disease.
What could go wrong
This is an observational study, not a treatment trial. It may not directly benefit participants, and results may not lead to immediate therapies.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 32 people

The number the study aims to enrol. It can still change while the study runs.

Started

Oct 2022

Expected to finish

Mar 2029

An estimate. End dates often move.

Lead sponsor

A company

The lead sponsor is a pharmaceutical, biotech, or medical-device company.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Pelizaeus-Merzbacher disease participant population

Ages

6 months to 17 years

Sex

Male participants only

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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

Get updates

Get notified about this study

Sign up to get updates when this study changes or when new studies for Pelizaeus-Merzbacher disease are added.

Vår säkerhetsrekommendation!

Genom att skicka in godkänner du våra Användarvillkor

Conditions

The condition(s) this trial relates to.

Pelizaeus-Merzbacher spectrum disorder

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Pelizaeus-Merzbacher disease

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    6 sites in 5 countries. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Ionis Investigative Site

    RECRUITING

    Atlanta, Georgia, 30342, United States

  • Ionis Investigative Site

    RECRUITING

    Philadelphia, Pennsylvania, 19104, United States

  • Ionis Investigative Site

    ACTIVE_NOT_RECRUITING

    Clermont-Ferrand, France

  • Ionis Investigative Site

    ACTIVE_NOT_RECRUITING

    Le Kremlin-Bicêtre, 94270, France

  • Ionis Investigative Site

    ACTIVE_NOT_RECRUITING

    Göttingen, Germany

  • Ionis Investigative Site

    RECRUITING

    Tel Aviv, 6423906, Israel

  • Ionis Investigative Site

    RECRUITING

    Milan, 20154, Italy

  • Ionis Investigative Site

    RECRUITING

    Amsterdam, 1081 HV, Netherlands

  • Ionis Investigative Site

    RECRUITING

    Leeds, LS1 3EX, United Kingdom

More trials for these conditions

Other studies related to the condition(s) this trial covers.