Genetic and Physical Characteristics of Rett Syndrome

Plain-language summary

This study examines the genetic and physical characteristics of Rett syndrome in affected individuals. It enrolled individuals who met the clinical criteria for classic or variant Rett syndrome or who tested positive for a mutation in the MECP2, CDKL5, or FOXG1 genes. The research was conducted as a study with no assigned phase and has been completed.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Completed

Sponsor

University of Alabama at Birmingham

Start date

3/1/2006

Estimated completion

10/1/2015

Countries

United States

Related genes

Locations

• Birmingham, United States
• Oakland, United States
• San Diego, United States
• Denver, United States
• Chicago, United States
• Boston, United States
• Rochester, United States
• Philadelphia, United States
• Greenwood, United States
• Nashville, United States
• Houston, United States

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

Inclusion Criteria:

* Meets clinical criteria for classic or variant RTT or tests positive for an MECP2 gene mutation or a MECP2 duplication or a mutation in CDKL5 or FOXG1.

Exclusion Criteria:

* Unwilling or unable to travel to study sites for annual or biannual evaluations