DSC04934Rett Syndrome Natural History Study Purpose and Study Procedures:
At the present time, effective treatment for RS is lacking. However, recent advances in our understanding of RS suggest that the potential for effective therapies is a realistic future consideration. In order to be prepared for the implementation of clinical treatment trials, it is important to develop accurate information on the longitudinal (natural history) pattern of progression among individuals with RS. As such, the purpose of this study is to gather detailed historical and physical examination data on a large cohort of females with RS. In the process, we will also gather information on survival and quality of life. The data will be essential for the proper conduct of future clinical trials.

The study involves the comprehensive assessment of the clinical features of Rett syndrome in females and males using established protocols. Enrollment can occur at UAB, Baylor College of Medicine and at Greenwood Genetic Center. A clinical database will be established, made up of 1000 or more individuals with Rett syndrome including MECP2 mutation status for the purpose of elaborating phenotype-genotype correlations. Participants will include 1) those seen in clinic at one of the three enrolling sites, 2) those registered with the Rare Disease Clinical Research Network, 3) registrants in the International Rett Syndrome Association registry. Potential participants are expected to have had determination of their MECP2 mutation status and to provide investigators with a copy of the results.

The longitudinal (natural history) study will be conducted using information from 900 participants with classic Rett syndrome (those who meet all established clinical criteria for RS) and 100 individuals with variant forms of Rett syndrome (those who meet some but not all of the established clinical criteria). All participants must have had the gene test for RS, although the test DOES NOT have to be positive for the MECP2 mutation.

These studies will be performed at the UAB GCRC or Sparks Clinic and will consist of a 1 to 2 hour outpatient visit.

Participants will be assessed using the following established clinical protocols. These include the following data collection instruments: 1) demographic form; 2) initial history form; 3) interval history form; 4) clinical assessment form; 5) diagnostic criteria form including MECP2 status; 6) motor-behavioral assessment form; 7) clinical severity scale; and 8) growth measurement assessment form to include height (length), weight, and skin fold thickness measurement. Parents will be asked to complete annually the Child Health Questionnaire (CHQ) which is a measurement of the parent's opinion regarding their child's health and the SF-36v2, which is a measurement of the caregiver's opinion regarding their own health. These two measures are to assess quality of life issues. These questionnaires will be sent ahead of time to be completed and brought to the visit. These questionnaires should take approximately 30 minutes to complete.

No treatment is involved or will be recommended as part of this study. After the initial assessment, semi-annual or annual visits will be required to update and provide a reassessment of the clinical protocols listed above. Semi-annual (twice a year) visits will be scheduled for participants up through 12 years of age. Thereafter, visits will be on an yearly basis.

Enrollment Criteria for the Rett Syndrome Natural History Study:
Individuals (female or male) of all ages with the clinical diagnosis of Rett syndrome (classic or variant) who have been tested for the MECP2 mutation - results may be positive or negative


Individuals (female or male) of all ages with a MECP2 mutation without clinical Rett syndrome

For information regarding the UAB Rett Center and Rett Syndrome Clinic contact
Jane Lane, RN, BSN
1-800-822-2472, ext 7

For more information regarding the RDCRC Network, including a list of consortia, research protocols and study information and the contact registry, go to the Rare Disease Network website.

For more information regarding Rett syndrome, visit the International Rett Syndrome Association (IRSA) webpage