NHS - Florida (Miami)
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
jobarris@texaschildrenshospital.org Ph: 832-822-7388 or 888-430-7388
University of Alabama at Birmingham, Birmingham, AL Coordinator: Jane Lane, RN, BSN jlane@uab.edu
Ph: 205-934-1130
Greenwood Genetic Center, Greenwood, SC Coordinator: Fran Annese, LMSW fran@ggc.org
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
May 2013