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Rett Syndrome Registry

This is an observational study, meaning it collects information without testing a specific treatment. It's called the Rett Syndrome Registry and aims to gather data on people with Rett syndrome who have a specific genetic change (pathologic loss of function alteration of MECP2). The study will collect information on symptoms from both medical experts and caregivers. The goal is to create better care guidelines and help develop new treatments for Rett syndrome. The study plans to include 3000 participants, ranging from newborns to 99 years old, and is currently unclear if it's recruiting.

Study design
This is an observational study that plans to enroll 3000 participants. It is a longitudinal study, meaning it will collect data over a long period.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
The natural history of Rett syndrome will be measured at 5 years.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT05432349

Rett Syndrome Registry

Recruiting
Not specifiedAges 0–99Observational
International Rett Syndrome Foundation
~3,000 participants
Updated 2026-06-30 on ClinicalTrials.gov

At a glance

Recruiting sites
19 of 19 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Natural History
Measured over 5 years

Conditions

Rett Syndrome
Rett Syndrome, Atypical
Genetic Disease
Genetic Diseases, X-Linked
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Neurologic Disorder
Neurodevelopmental Disorders
Nervous System Diseases

Explore related trials

Rett SyndromeMECP2 Gene

NCT05432349

Where you'd take part

This study runs at 19 sites. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • Boston Children's Hospital

    Boston, Massachusettsstudy coordinator listed

    Recruiting

  • Children's Health

    Dallas, Texasstudy coordinator listed

    Recruiting

  • Children's Hospital Colorado

    Denver, Coloradostudy coordinator listed

    Recruiting

  • Children's Hospital Los Angeles

    Los Angeles, Californiastudy coordinator listed

    Recruiting

  • Children's Hospital of Philadelphia

    Philadelphia, Pennsylvaniastudy coordinator listed

    Recruiting

  • Cincinnati Children's Hospital Medical Center

    Cincinnati, Ohiostudy coordinator listed

    Recruiting

  • Gillette Children's Specialty Healthcare

    Saint Paul, Minnesotastudy coordinator listed

    Recruiting

  • Greenwood Genetic Center

    Greenwood, South Carolinastudy coordinator listed

    Recruiting

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

Who to contact

Dominique Pichard
[email protected]
513-874-3020
Email the study team

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Eligibility criteria

Inclusion

Male or female with a pathologic loss of function alteration of MECP2

Exclusion

Male or female with a gain of function alteration of MECP2, including those with MEPC2 duplication or triplication

What this trial measures

  • Natural History5 years

    To longitudinally evaluate the natural history of patients with mutations on the MECP2 gene, estimating and defining their clinical spectrum (e.g. disease course and complications of disease).