5201: Rett Syndrome Natural History Study
Please Note: The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.
The purpose of this natural history study is to establish a phenotype-genotype correlation over a broad spectrum of Rett syndrome (RS) phenotypes including the longitudinal pattern of progression of clinical features, quality of life, and longevity across this cohort.
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 13 years or older) or bi-annual evaluation (for those through age 12).
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.
- Baylor College of Medicine, Houston, TX
Coordinator: Judy Barrish, RN, BSN
- University of Alabama at Birmingham, Birmingham, AL
Coordinator: Jane Lane, RN, BSN
- Greenwood Genetic Center, Greenwood, SC
Coordinator: Fran Annese, LMSW
- Children's Hospital Boston, Boston, MA
Coordinator: Kate Barnes
Join the Contact Registry for: Rett Syndrome