Genetic and Physical Characteristics of Rett Syndrome

Summary

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.

Conditions

• Rett Syndrome
• MECP2 Duplication Disorder
• Rett-related Disorder

Sponsors & Collaborators

• Rare Diseases Clinical Research Network

  collaborator NETWORK

• Greenwood Genetic Center

  collaborator OTHER

• Baylor College of Medicine

  collaborator OTHER

• Boston Children's Hospital

  collaborator OTHER

• University of Rochester

  collaborator OTHER

• Children's Hospital of Philadelphia

  collaborator OTHER

• University of Colorado, Denver

  collaborator OTHER

• Rush University Medical Center

  collaborator OTHER

• UCSF Benioff Children's Hospital Oakland

  collaborator OTHER

• University of California, San Diego

  collaborator OTHER

• Vanderbilt University

  collaborator OTHER

• University of South Florida

  collaborator OTHER

• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

  collaborator NIH

• University of Alabama at Birmingham

  lead OTHER

Principal Investigators

• Alan K Percy, MD · University of Alabama at Birmingham

Eligibility

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2006-03-31

Primary Completion

2015-10-31

Completion

2015-10-31

Countries

• United States

Study Locations