Registry for individuals with Rett syndrome
Official title: Rett Syndrome Real World Data Observational Registry
Run by International Rett Syndrome Foundation · NCT05432349 · Data updated 2026-11-12
This study is gathering information from people with Rett syndrome and their caregivers to help improve care and develop new treatments for the condition.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 0 Years to 99 Years |
| Sex | All |
| Enrollment | 3000 (estimated) |
| Sponsor | International Rett Syndrome Foundation Academic / other |
| Locations | 19 sites (Birmingham, Alabama and 18 other locations) |
| Status | Recruiting |
| Started | August 2, 2022 |
| Main results expected | July 2027 |
| Study ends | July 2028 |
| Registry record updated | June 30, 2026 |
| Trial ID | NCT05432349 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include individuals diagnosed with Rett syndrome who have a pathologic loss of function alteration of the MECP2 gene.
✕Probably not a fit
Patients with gain of function alterations of MECP2, such as those with MECP2 duplication or triplication, may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
The Rett Syndrome Registry is a longitudinal observational study focused on individuals with MECP2 mutations diagnosed with Rett syndrome. It aims to collect comprehensive data on the signs and symptoms of Rett syndrome from both experts and caregivers. This information will help develop consensus-based guidelines for care and enhance the design of future clinical trials and drug development efforts for Rett syndrome.
Why it matters
Potential benefit: If successful, this registry could lead to improved care guidelines and more effective treatments for individuals with Rett syndrome.
How similar studies have gone: Other observational studies focusing on genetic disorders have shown success in improving understanding and treatment approaches, indicating that this registry could also be beneficial.
Who can join: the full rules
Show full inclusion / exclusion criteria
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
Where it's running
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University of Alabama
Birmingham, Alabama, United States Recruiting -
Children's Hospital Los Angeles
Los Angeles, California, United States Recruiting -
UCSF Benioff Children's Hospital
Oakland, California, United States Recruiting -
Rady Children's Hospital - San Diego
San Diego, California, United States Recruiting -
Children's Hospital Colorado
Denver, Colorado, United States Recruiting -
Nicklaus Children's Hospital
Miami, Florida, United States Recruiting
Show 13 more locations
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Rush University Medical Center
Chicago, Illinois, United States Recruiting -
Kennedy Krieger Institute
Baltimore, Maryland, United States Recruiting -
Boston Children's Hospital
Boston, Massachusetts, United States Recruiting -
Gillette Children's Specialty Healthcare
Saint Paul, Minnesota, United States Recruiting -
Washington University in St. Louis
St Louis, Missouri, United States Recruiting -
The University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, United States Recruiting -
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States Recruiting -
Nationwide Children's Hospital
Columbus, Ohio, United States Recruiting -
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States Recruiting -
Greenwood Genetic Center
Greenwood, South Carolina, United States Recruiting -
Vanderbilt Kennedy Center
Nashville, Tennessee, United States Recruiting -
Children's Health
Dallas, Texas, United States Recruiting -
Texas Children's Hospital
Houston, Texas, United States Recruiting
Study contacts
- Study coordinator: Dominique Pichard
- Email: research@rettsyndrome.org
- Phone: 513-874-3020
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.