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Clinical Studies

5201: Rett Syndrome Natural History Study

Status: Recruiting


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.

Target Enrollment:

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
    Telephone: 832-822-1781
  • University of Alabama at Birmingham, Birmingham, AL
    Coordinator: Jane Lane, RN, BSN
    Telephone: 205-934-1130
  • Greenwood Genetic Center, Greenwood, SC
    Coordinator: Fran Annese, LMSW
    Telephone: 864-941-8100
  • Children's Hospital Boston, Boston, MA
    Coordinator: Kate Barnes
    Telephone: 617-355-5230

Join the Contact Registry for: Rett Syndrome

Join the Contact Registry

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