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Rett Syndrome Registry

RecruitingObservational study

Rett Syndrome Real World Data Observational Registry

Who can join

Ages 0 to 99 · All sexes

Full eligibility 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

About the study

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.

Sponsor: International Rett Syndrome Foundation · Participants: 3,000 · Started: Aug 2, 2022

Contact the study team

Official record on ClinicalTrials.gov — NCT05432349

Locations in the U.S.

AlabamaUniversity of Alabama, Birmingham
CaliforniaChildren's Hospital Los Angeles, Los Angeles
UCSF Benioff Children's Hospital, Oakland
Rady Children's Hospital - San Diego, San Diego
ColoradoChildren's Hospital Colorado, Denver
FloridaNicklaus Children's Hospital, Miami
IllinoisRush University Medical Center, Chicago
MarylandKennedy Krieger Institute, Baltimore
MassachusettsBoston Children's Hospital, Boston
MinnesotaGillette Children's Specialty Healthcare, Saint Paul
MissouriWashington University in St. Louis, St Louis
North CarolinaThe University of North Carolina at Chapel Hill, Chapel Hill
OhioCincinnati Children's Hospital Medical Center, Cincinnati
Nationwide Children's Hospital, Columbus
PennsylvaniaChildren's Hospital of Philadelphia, Philadelphia
South CarolinaGreenwood Genetic Center, Greenwood
TennesseeVanderbilt Kennedy Center, Nashville
TexasChildren's Health, Dallas
Texas Children's Hospital, Houston

Conditions

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.