An observational study in Rett Syndrome, Rett Syndrome, Atypical and Genetic Disease, sponsored by International Rett Syndrome Foundation. Recruiting at 19 sites in United States. Open to participants aged 0 Years to 99 Years. Per ClinicalTrials.gov, last updated 2026-06-30.
Sponsored by International Rett Syndrome Foundation · Observational
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.
96 studies on the registry are indexed under Rett Syndrome; 19 are open to participants now.
This study's planned enrollment of 3,000 is above the median of 100 across 29 observational studies indexed under Rett Syndrome.
Browse Rett Syndrome studies →This is the only study on the registry with International Rett Syndrome Foundation as lead sponsor.
Counted across the registry records on this site, refreshed daily.
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.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Natural History
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).
Time frame: 5 years
Started Aug 2022 (actual). Primary completion is estimated for Jul 2027, 59 months after the start.
How these figures are worked out, and which studies are left out of them.
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
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Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.