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.
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
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.
Cohort
Prospective
Not listed
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).
Click on the lead sponsor to view all of their trials.
International Rett Syndrome Foundation
Lead sponsor
Boston Children's Hospital
Collaborator
Children's Health UTSW
Collaborator
Children's Hospital Colorado
Collaborator
Children's Hospital of Philadelphia
Collaborator
Gillette Children's Specialty Healthcare
Collaborator
Greenwood Genetic Center
Collaborator
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Collaborator
Rush University
Collaborator
St. Louis Children's Hospital
Collaborator
Baylor College of Medicine
Collaborator
University of Alabama at Birmingham
Collaborator
UCSF Benioff Children's Hospital Oakland
Collaborator
Vanderbilt University Medical Center
Collaborator
Hive Networks
Collaborator
Nationwide Children's Hospital
Collaborator
Children's Hospital Medical Center, Cincinnati
Collaborator
Nicklaus Children's Hospital
Collaborator
University of North Carolina, Chapel Hill
Collaborator
Children's Hospital Los Angeles
Collaborator
Rady Children's Hospital, San Diego
Collaborator
