5212: Neurophysiological Correlates

This study is intertwined with study 5211: Rett Syndrome, MECP2 Duplication Disorder, and Rett-Related Disorders Natural History Protocol which collects information about the clinical features of RTT, MECP2 Dup, and RTT-related disorders. This study acquires specialized neurophysiological or brain function assessments to review the relationship between the brain features of RTT, MECP2 Dup, and RTT-related disorders and disease evolution, severity and specific clinical features.

For Diseases:

Several groups of people may participate in this study:

  1. Healthy girls and boys
  2. Individuals with RTT, MECP2 Dup, and RTT-related disorders (mutations or deletions in CDKL5 and FOXG1 genes) who are also enrolled in the Natural History Protocol.

Background

The overall purpose of this study is to learn more about electrical characteristics of the brain in these conditions. We will measure these brain functions or biomarkers by using an electrode cap, like an EEG, and recording evoked potentials (EPs), also known as event-related potentials (ERP). This study intends to identify and understand more about how the brain responds to sound and sight in these disorders.

The main goal of the project is to identify potential biomarkers that can become measures for possible treatments and other research studies, while also providing insight into abnormal brain activity of RTT, MECP2 Dup, and RTT-related disorders.

Subjects are in the study for 3 years.  There is a study visit every year for a total of 3 study visits.  The overall purpose of this study is to learn more about electrical characteristics of the brain in these conditions. Brain functions will be measured by placing electrodes on your scalp using a cap, like an EEG, and recording evoked potentials (EPs), also known as event-related potentials (ERP). This study intends to identify and understand more about how the brain responds to sound and sight in these disorders. Auditory evoked potential (AEP) will be measured with an electrode cap on your head while headphones play different sounds. Visual evoked potential (VEP) will be measured with the electrode cap and an eye-tracking device while you watch a screen showing different patterns.

Targeted Enrollment

To be eligible to participate, you must:

  • Individuals in study 5211 with one of the following:
    • RTT with a mutation in the MECP2 gene
    • Duplication of MECP2 gene
    • RTT-related disorder, with a mutation in the CDKL5 or FOXG1 genes

OR

  • A healthy girl or boy who
    • has normal intelligence quotient scores or normal developmental tests and
    • does not have a negative history of neurologic impairment or neuropsychiatric conditions and
    • does not have clinical evidence of a genetic disorder

You are not eligible to participate if:

  • You do not fit in one of the groups listed above

In order to participate in a study, you must personally contact the study coordinator of the participating institution closest to you by phone or e-mail. Please use the information below to inquire about participation.

Colorado

University of Colorado
Contact: Gina VanderVeen
Phone: 720-777-5514
Email: Gina.VanderVeen@childrenscolorado.org

Massachusetts

Boston Children's Hospital
Contact:  Lindsay Swanson
Phone:  617-355-5230
Email: Lindsay.swanson@childrens.harvard.edu

Ohio

Cincinnati Children’s Hospital Medical Center
Coordinator: Shannon Standridge, DO
Telephone: 513-636-8016
E-mail: Shannon.Standridge@cchmc.org

Pennsylvania

Children’s Hospital of Philadelphia
Contact: Casey Gorman
Telephone: 267-426-0122
Email: gormanc@email.chop.edu

Tennessee

Vanderbilt University
Contact: Nicole Thompson
Phone: 615-343-4586
Email: Nicole.i.thompson@vanderbilt.edu