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Massive global registry aims to unlock secrets of rett syndrome

NCT ID NCT05432349

Knowledge-focused Sponsor: International Rett Syndrome Foundation 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 30, 2026 · Last updated Jul 01, 2026 · Updated 1 time

Summary

This study creates a large registry of people with Rett syndrome, a rare genetic disorder that causes severe intellectual and physical disabilities. Researchers will collect information from doctors and caregivers to understand how the disease progresses over time. The goal is to develop better care guidelines and make future clinical trials more effective.

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 registry could lead to better care guidelines for Rett syndrome and more effective clinical trials for new treatments.
What could go wrong
This is an observational study, not a treatment trial. It collects data but does not test any therapy, so it won't directly improve symptoms.

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 3,000 people

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

Started

Aug 2022

Expected to finish

Jul 2028

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

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

Who is studied

The study population is males and females of all ages with a loss of function alteration of the MECP2 gene, most commonly resulting in Rett syndrome.

Ages

0 to 99 years

Sex

Anyone

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: * Male or female with a pathologic loss of function alteration of MECP2 Exclusion Criteria: * Male or female with a gain of function alteration of MECP2, including those with MEPC2 duplication or triplication

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Conditions

The condition(s) this trial relates to.

hereditary disease intellectual disability nervous system disorder Neurobehavioral Manifestations neurodevelopmental disorder Neurologic Manifestations Rett syndrome Rett Syndrome, Atypical X-linked disease

As listed by the trial registrant

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

Genetic disease Genetic diseases, X-linked Intellectual disability Nervous system diseases Neurobehavioral manifestations Neurodevelopmental disorders Neurologic disorder Neurologic manifestations Rett syndrome Rett syndrome, atypical

How to take part

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

  1. The study's own enquiry address

    This study publishes an address for enquiries. See it below .

  2. The places running it

    19 sites. The list below names each one and where it is.

  3. 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 ↗

  4. 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

Study contacts

  • Contact

    Email: •••••@•••••

Locations

  • Boston Children's Hospital

    RECRUITING

    Boston, Massachusetts, 02115, United States

    Contact Email: •••••@•••••

  • Children's Health

    RECRUITING

    Dallas, Texas, 75207, United States

  • Children's Hospital Colorado

    RECRUITING

    Denver, Colorado, 80045, United States

    Contact Email: •••••@•••••

  • Children's Hospital Los Angeles

    RECRUITING

    Los Angeles, California, 90027, United States

    Contact Email: •••••@•••••

  • Children's Hospital of Philadelphia

    RECRUITING

    Philadelphia, Pennsylvania, 19104, United States

  • Cincinnati Children's Hospital Medical Center

    RECRUITING

    Cincinnati, Ohio, 45229, United States

  • Gillette Children's Specialty Healthcare

    RECRUITING

    Saint Paul, Minnesota, 55101, United States

    Contact Email: •••••@•••••

  • Greenwood Genetic Center

    RECRUITING

    Greenwood, South Carolina, 29646, United States

  • Kennedy Krieger Institute

    RECRUITING

    Baltimore, Maryland, 21205, United States

    Contact Email: •••••@•••••

  • Nationwide Children's Hospital

    RECRUITING

    Columbus, Ohio, 43205, United States

    Contact Email: •••••@•••••

  • Nicklaus Children's Hospital

    RECRUITING

    Miami, Florida, 33155, United States

    Contact Email: •••••@•••••

  • Rady Children's Hospital - San Diego

    RECRUITING

    San Diego, California, 92123, United States

  • Rush University Medical Center

    RECRUITING

    Chicago, Illinois, 60612, United States

  • Texas Children's Hospital

    RECRUITING

    Houston, Texas, 77030, United States

  • The University of North Carolina at Chapel Hill

    RECRUITING

    Chapel Hill, North Carolina, 27517, United States

  • UCSF Benioff Children's Hospital

    RECRUITING

    Oakland, California, 94598, United States

  • University of Alabama

    RECRUITING

    Birmingham, Alabama, 35233, United States

  • Vanderbilt Kennedy Center

    RECRUITING

    Nashville, Tennessee, 37232, United States

    Contact Email: •••••@•••••

  • Washington University in St. Louis

    RECRUITING

    St Louis, Missouri, 63110, United States

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