The purpose of this natural history study is to establish a phenotype-genotype correlation over a broad spectrum of Rett syndrome phenotypes including the longitudinal pattern of progression of clinical features, quality of life, and longevity across this cohort.
Location:Various (See list below). A child is enrolled and seen at one specific study site. Assessments are scheduled privately in Alabama, Massachusetts, South Carolina, and Texas. Individual assessments are scheduled into specialized clinic weekends sponsored by IRSF (see below for dates) in California, Florida, Illinois, and New Jersey.
Target Enrollment:1,000 individuals fulfilling consensus clinical criteria for Classic or Variant Rett Syndrome or individuals with MECP2 mutations who do not meet the clinical criteria. All ages will be eligible. Patients must be able to travel to study sites for annual evaluations (for those 6 years or older) or bi-annual evaluation (for those through age 5).
The data collection sites include:
- Birmingham, AL
- Oakland, CA – travel site
- Tampa/Miami (alternating), FL - travel site
- Chicago, IL - travel site
- Boston, MA
- New Brunswick, NJ – travel site
- Greenwood, SC
- Houston, TX
How to Participate:In order to participate in a study, you must personally contact the study coordinator of any of the participating institutions by phone or by e-mail. Please use the information below to inquire about participation. If you wish to enroll at one of the travel sites (CA, FL, IL, or NJ) please contact Jane Lane, lead research coordinator, at the University of Alabama for participation information.
Site Coordinators Contact Information:
The Blue Bird Circle Rett Center, Texas Children's Hospital/Baylor College of Medicine Coordinator: Judy Barrish, RN, BSN email@example.com Ph: 832-822-7388 or 888-430-7388
University of Alabama at Birmingham, Birmingham, AL Coordinator: Jane Lane, RN, BSN firstname.lastname@example.org Ph: 205-934-1130
Greenwood Genetic Center, Greenwood, SC Coordinator: Fran Annese, LMSW email@example.com Ph: 864-941-8100
Boston Children's Hospital Rett Center Boston, MA Coordinator: Kate Barnes, BSc Email: Katherine.Barnes@childrens.harvard.edu Ph: 617-355-5230