Rett Syndrome Registry (RSR)

June 26, 2026 updated by: International Rett Syndrome Foundation

Rett Syndrome Real World Data Observational Registry

The Rett Syndrome Registry is a longitudinal observational study of individuals with MECP2 mutations and a diagnosis of Rett syndrome. Designed together with the IRSF Rett Syndrome Center of Excellence Network medical directors, this study collects data on the signs and symptoms of Rett syndrome as reported by the Rett syndrome experts and by the caregivers of individuals with Rett syndrome. This study will be used to develop consensus based guidelines for the care of your loved ones with Rett syndrome and to facilitate the development of better clinical trials and other aspects of the drug development path for Rett syndrome.

Study Overview

Status

Recruiting

Conditions

Study Type

Observational

Enrollment (Estimated)

3000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • United States
    • Alabama
      • Birmingham, Alabama, United States, 35233
    • California
      • Los Angeles, California, United States, 90027
        • Recruiting
        • Children's Hospital Los Angeles
        • Contact:
      • Oakland, California, United States, 94598
        • Recruiting
        • UCSF Benioff Children's Hospital
        • Contact:
      • San Diego, California, United States, 92123
        • Recruiting
        • Rady Children's Hospital - San Diego
        • Contact:
    • Colorado
      • Denver, Colorado, United States, 80045
    • Florida
      • Miami, Florida, United States, 33155
    • Illinois
      • Chicago, Illinois, United States, 60612
        • Recruiting
        • Rush University Medical Center
        • Contact:
    • Maryland
      • Baltimore, Maryland, United States, 21205
    • Massachusetts
      • Boston, Massachusetts, United States, 02115
    • Minnesota
      • Saint Paul, Minnesota, United States, 55101
    • Missouri
      • St Louis, Missouri, United States, 63110
        • Recruiting
        • Washington University in St. Louis
        • Contact:
    • North Carolina
      • Chapel Hill, North Carolina, United States, 27517
    • Ohio
      • Cincinnati, Ohio, United States, 45229
        • Recruiting
        • Cincinnati Children's Hospital Medical Center
        • Contact:
      • Columbus, Ohio, United States, 43205
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19104
        • Recruiting
        • Children's Hospital of Philadelphia
        • Contact:
    • South Carolina
      • Greenwood, South Carolina, United States, 29646
        • Recruiting
        • Greenwood Genetic Center
        • Contact:
          • Fran Annese
          • Phone Number: (864) 941-8100
          • Email: fran@ggc.org
    • Tennessee
      • Nashville, Tennessee, United States, 37232
        • Recruiting
        • Vanderbilt Kennedy Center
        • Contact:
    • Texas
      • Dallas, Texas, United States, 75207
      • Houston, Texas, United States, 77030
        • Recruiting
        • Texas Children's Hospital
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

1 second to 99 years (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Probability Sample

Study Population

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.

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Natural History
Time Frame: 5 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).
5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

International Rett Syndrome Foundation

Collaborators

Baylor College of Medicine
Children's Hospital of Philadelphia
University of Alabama at Birmingham
Children's Hospital Colorado
Boston Children's Hospital
Vanderbilt University Medical Center
Nationwide Children's Hospital
University of North Carolina, Chapel Hill
Children's Hospital Medical Center, Cincinnati
Children's Hospital Los Angeles
St. Louis Children's Hospital
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
UCSF Benioff Children's Hospital Oakland
Rady Children's Hospital, San Diego
Rush University
Gillette Children's Specialty Healthcare
Children's Health UTSW
Greenwood Genetic Center
Hive Networks
Nicklaus Children's Hospital

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

August 2, 2022

Primary Completion (Estimated)

July 1, 2027

Study Completion (Estimated)

July 1, 2028

Study Registration Dates

First Submitted

April 5, 2022

First Submitted That Met QC Criteria

June 20, 2022

First Posted (Actual)

June 27, 2022

Study Record Updates

Last Update Posted (Actual)

June 30, 2026

Last Update Submitted That Met QC Criteria

June 26, 2026

Last Verified

June 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • Pro00060206

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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