Rett Syndrome Registry

Description

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.

Conditions

Rett Syndrome, Rett Syndrome, Atypical, Genetic Disease, Genetic Diseases, X-Linked, Intellectual Disability, Neurobehavioral Manifestations, Neurologic Manifestations, Neurologic Disorder, Neurodevelopmental Disorders, Nervous System Diseases

Study Overview

Study Details

Study overview

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.

Rett Syndrome Real World Data Observational Registry

Rett Syndrome Registry

Condition
Rett Syndrome
Intervention / Treatment

-

Contacts and Locations

Birmingham

University of Alabama, Birmingham, Alabama, United States, 35233

Los Angeles

Children's Hospital Los Angeles, Los Angeles, California, United States, 90027

Oakland

UCSF Benioff Children's Hospital, Oakland, California, United States, 94609

Denver

Children's Hospital Colorado, Denver, Colorado, United States, 80045

Chicago

Rush University Medical Center, Chicago, Illinois, United States, 60612

Baltimore

Kennedy Krieger Institute, Baltimore, Maryland, United States, 21205

Boston

Boston Children's Hospital, Boston, Massachusetts, United States, 02115

Saint Paul

Gillette Children's Specialty Healthcare, Saint Paul, Minnesota, United States, 55101

Saint Louis

Washington University in St. Louis, Saint Louis, Missouri, United States, 63110

Bronx

The Children's Hospital at Montefiore, Bronx, New York, United States, 10467

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.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

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

Ages Eligible for Study

0 Years to 99 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

International Rett Syndrome Foundation,

Study Record Dates

2028-07