Genetic and Physical Characteristics of Rett Syndrome

Completed

Conditions studied: Rett Syndrome, MECP2 Duplication Disorder, Rett-related Disorder

In brief

Rett Syndrome (RTT) is a genetic brain disorder that occurs almost exclusively in females and is usually caused by a change (mutation) in the gene MECP2. The disorder is characterized by multiple developmental problems, as well as behavioral features, such as repetitive stereotypic hand movements, including hand washing, wringing, and tapping. While there is no cure for RTT, recent advances in the understanding of the disease suggest that the development of new, effective therapies is promising. This study will gather information on the genetic defects that cause RTT, the physical expressions of these defects, and disease progression. In turn, this may direct the development of future treatments. Expanded studies include individuals with MECP2 Duplication disorder, and RTT-related disorders including individuals with MECP2 mutations, but not meeting obligatory criteria for the diagnosis of RTT and individuals with mutations in CDKL5 and FOXG1 some of whom meet criteria for atypical RTT.

Key facts

Study ID

NCT00299312

Run by

University of Alabama at Birmingham

People needed

10

Starts

2006-03-01

Expected to finish

2015-10-01

Last updated by the study team

2017-03-16

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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.

You may not qualify if…

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

Where it is running

• University of Alabama at Birmingham — Birmingham, Alabama, United States
• Children's Hospital of Oakland — Oakland, California, United States
• University of California San Diego — San Diego, California, United States
• University of Colorado Denver — Denver, Colorado, United States
• Rush University Medical Center — Chicago, Illinois, United States
• Children's Hospital Boston — Boston, Massachusetts, United States
• University of Rochester — Rochester, New York, United States
• Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States
• Greenwood Genetic Center — Greenwood, South Carolina, United States
• Vanderbilt University — Nashville, Tennessee, United States
• Baylor College of Medicine — Houston, Texas, United States

Full record on ClinicalTrials.gov

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