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Scientists hunt for clues in rare genetic brain disorder

NCT ID NCT06014541

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 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 Results may not be published yet.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 This study
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This status has not been confirmed recently, so it may be out of date.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 study aimed to observe how MECP2 duplication syndrome progresses over time by measuring biological markers in spinal fluid and blood, and by tracking changes in development, behavior, and seizures. It enrolled 29 males aged 1 month to 65 years with a confirmed genetic diagnosis. The study was terminated early, so results may be limited.

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 help researchers better understand how MECP2 duplication syndrome progresses and identify biological markers to use in future treatment trials.
What could go wrong
This is an observational study that was terminated early, so it may not collect enough data to draw firm conclusions. It does not test any treatment, so there is no direct benefit to participants.

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

29 people

The number who actually took part.

Started

Oct 2023

Finished

Oct 2025

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

Participants who have a diagnosis of MDS with genetic confirmation of MECP2 duplication or triplication will be enrolled into this study.

Ages

1 month to 65 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.

Key Inclusion Criteria * Participant has a diagnosis of MDS with genetic confirmation of MECP2 duplication (or triplication) * Participant has a parent or caregiver (CG) ≥ 18 years old 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 and activities * Male ≥ 1 month and ≤ 65 years of age * No contraindications for lumbar puncture (LP)'s, blood draws, sedation (if necessary) or other study activities * Medically stable to complete the study and will tolerate sedation or general anesthesia and other study activities Key Exclusion Criteria * Clinically significant abnormalities in medical history (e.g., clinically significant renal, hepatic, or cardiac abnormalities; major surgery within 3 months of screening) or upon physical examination that could potentially impact the NH of MDS * Unwillingness or inability to comply with study procedures, including follow up, as specified by this protocol, or unwillingness to cooperate fully with the Investigator * Treatment with an investigational drug, gene therapy, stem cell therapy, biological agent, or device within 30 days of screening, or 5 half-lives of investigational agent, whichever is longer (participants cannot be concurrently enrolled in NH00006 and ION440-CS1).

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Conditions

The condition(s) this trial relates to.

Rett syndrome syndromic X-linked intellectual disability Lubs type

As listed by the trial registrant

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

Methyl CPG binding protein 2 (MECP2) duplication syndrome

Contacts and locations

Locations

  • Baylor College of Medicine

    Houston, Texas, 77030, United States

  • Children's Hospital of Philadelphia

    Philadelphia, Pennsylvania, 19104, United States

  • Gillette Children's Specialty Healthcare

    Saint Paul, Minnesota, 55101, United States

  • UCSD - Rady Children's Hospital

    San Diego, California, 92123, United States

  • Vanderbilt University Medical Center

    Nashville, Tennessee, 37203, United States

More trials for these conditions

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