Summary

Eligibility
for people ages up to 99 years (full criteria)
Location
at Oakland, California and other locations
Dates
study started
estimated completion

Description

Summary

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.

Official Title

Rett Syndrome Real World Data Observational Registry

Keywords

Rett Syndrome Rett Syndrome, Atypical Genetic Disease Genetic Diseases, X-Linked Intellectual Disability Neurobehavioral Manifestations Neurologic Manifestations Neurologic Disorder Neurodevelopmental Disorders Nervous System Diseases MECP2 Neurodevelopmental disorder Registry Natural History Study Genetic Diseases, Inborn Disease Syndrome

Eligibility

You can join if…

Open to people ages up to 99 years

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

You CAN'T join if...

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

Locations

  • UCSF Benioff Children's Hospital not yet accepting patients
    Oakland California 94609 United States
  • Children's Hospital Colorado not yet accepting patients
    Denver Colorado 80045 United States

Details

Status
accepting new patients at some sites,
but this study is not currently recruiting here
Start Date
Completion Date
(estimated)
Sponsor
International Rett Syndrome Foundation
ID
NCT05432349
Study Type
Observational [Patient Registry]
Participants
Expecting 3000 study participants
Last Updated