Rett Syndrome Registry
Purpose
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
Eligibility
- Eligible Ages
- Between 0 Years and 99 Years
- Eligible Sex
- All
- Accepts Healthy Volunteers
- No
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
Study Design
- Phase
- Study Type
- Observational [Patient Registry]
- Observational Model
- Cohort
- Time Perspective
- Prospective
Recruiting Locations
University of Alabama
Birmingham, Alabama 35233
Birmingham, Alabama 35233
UCSF Benioff Children's Hospital
Oakland, California 94609
Oakland, California 94609
Children's Hospital Colorado
Denver, Colorado 80045
Denver, Colorado 80045
Rush University Medical Center
Chicago, Illinois 60612
Chicago, Illinois 60612
Kennedy Krieger Institute
Baltimore, Maryland 21205
Baltimore, Maryland 21205
Boston Children's Hospital
Boston, Massachusetts 02115
Boston, Massachusetts 02115
Gillette Children's Specialty Healthcare
Saint Paul, Minnesota 55101
Saint Paul, Minnesota 55101
Washington University in St. Louis
St Louis, Missouri 63110
St Louis, Missouri 63110
The Children's Hospital at Montefiore
The Bronx, New York 10467
The Bronx, New York 10467
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania 19104
Philadelphia, Pennsylvania 19104
Greenwood Genetic Center
Greenwood, South Carolina 29646
Greenwood, South Carolina 29646
Vanderbilt Kennedy Center
Nashville, Tennessee 37232
Nashville, Tennessee 37232
Children's Health
Dallas, Texas 75207
Dallas, Texas 75207
Texas Children's Hospital
Houston, Texas 77030
Houston, Texas 77030
More Details
- Status
- Recruiting
- Sponsor
- International Rett Syndrome Foundation