Status:

COMPLETED

Genetic and Physical Characteristics of Rett Syndrome

Lead Sponsor:

University of Alabama at Birmingham

Collaborating Sponsors:

Rare Diseases Clinical Research Network

Greenwood Genetic Center

Conditions:

Rett Syndrome

MECP2 Duplication Disorder

Eligibility:

All Genders

Brief 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 deve...

Detailed Description

RTT is a brain disorder that causes problems with childhood development. It is usually caused by an abnormality (mutation) in the gene MECP2. RTT can cause severe impairments in movement and communica...

Eligibility Criteria

Inclusion

  • 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

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

Key Trial Info

Start Date :

March 1 2006

Trial Type :

OBSERVATIONAL

Allocation :

ACTUAL

End Date :

October 1 2015

Estimated Enrollment :

10 Patients enrolled

Trial Details

Trial ID

NCT00299312

Start Date

March 1 2006

End Date

October 1 2015

Last Update

March 16 2017

Active Locations (11)

Enter a location and click search to find clinical trials sorted by distance.

Page 1 of 3 (11 locations)

1

University of Alabama at Birmingham

Birmingham, Alabama, United States, 35294

2

Children's Hospital of Oakland

Oakland, California, United States, 94709

3

University of California San Diego

San Diego, California, United States, 92123

4

University of Colorado Denver

Denver, Colorado, United States, 80045-2571