5201: Rett Syndrome Natural History Study

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.

For Diseases:

  • Rett Syndrome


Rett syndrome (RS), a brain disorder affecting development in childhood, has been identified almost exclusively in females.  RS results in severe movement and communication problems following apparently normal development for the first six months of life.  The characteristic features include loss of speech and purposeful hand use, occurrence of repetitive hand movements, abnormal walking, abnormal breathing, and slowing in the rate of head growth.  Current treatment for persons with RS includes physical and occupational therapy, speech therapy, and medication for seizures. No cure for RS is known.

Targeted Enrollment

To be eligible to participate, you must:

  • fulfill consensus clinical criteria for classic or variant Rett Syndrome or have MECP2 mutations who do not meet the clinical criteria.
  • 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


University of Alabama at Birmingham, Birmingham, AL
Coordinator: Jane Lane, RN, BSN
E-mail: jlane@uab.edu
Telephone: 205-934-1130


Children's Hospital Boston, Boston, MA
Coordinator: Kate Barnes
Telephone: 617-355-5230
E-mail: Katherine.Barnes@childrens.harvard.edu

South Carolina 

Greenwood Genetic Center, Greenwood, SC
Coordinator: Fran Annese, LMSW
E-mail: fran@ggc.org
Telephone: 864-941-8100


Baylor College of Medicine, Houston, TX
Coordinator: Judy Barrish, RN, BSN
E-mail: jobarris@texaschildrenshospital.org
Telephone: 832-822-1781