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.
Study Type
OBSERVATIONAL
Enrollment
3,000
University of Alabama
Birmingham, Alabama, United States
RECRUITINGChildren's Hospital Los Angeles
Los Angeles, California, United States
NOT_YET_RECRUITINGUCSF Benioff Children's Hospital
Oakland, California, United States
RECRUITINGChildren's Hospital Colorado
Denver, Colorado, United States
RECRUITINGRush University Medical Center
Chicago, Illinois, United States
RECRUITINGKennedy Krieger Institute
Baltimore, Maryland, United States
RECRUITINGBoston Children's Hospital
Boston, Massachusetts, United States
RECRUITINGGillette Children's Specialty Healthcare
Saint Paul, Minnesota, United States
RECRUITINGWashington University in St. Louis
St Louis, Missouri, United States
RECRUITINGThe Children's Hospital at Montefiore
The Bronx, New York, United States
RECRUITING...and 8 more locations
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
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