Rare Diseases Clinical Research Network: Neurophysiological Correlates

Summary

The overall purpose of this project is to advance understanding of the neurophysiological features of Rett syndrome (RTT), MECP2 Duplication (MECP2 Dup) and RTT-related disorders (CDKL5, FOXG1) to gain insight into disease pathogenesis, with an emphasis on identifying biomarkers of disease evolution and severity. This specific study is intertwined to the core study Natural History of Rett Syndrome and Related Disorders (RTT5211), which characterizes range of clinical involvement and genotype-phenotype correlations and will provide phenotypical data for determining the clinical relevance of the neurophysiologic parameters; study subjects here are co- and primarily enrolled in RTT5211. The proposed studies will serve as basis of future translational investigations, including further refinement of biomarkers, development of outcome measures, and clinical trials per se.

Conditions

• Rett Syndrome, Preserved Speech Variant
• Mecp2 Duplication Syndrome
• Rett-related Disorders

Interventions

PROCEDURE

Auditory and Visual Event-related Potentials and EEG

Specifically, through up to three standardized sessions (i.e., annual \[every 10-14 months\]), we will assess AEP and VEP. ERP recordings will also provide data for specific rhythms/band (gamma and alpha) pattern analyses as secondary measures as well as technical control data, which will help to exclude those with co-current seizures.

Sponsors & Collaborators

• Children's Hospital of Philadelphia

  collaborator OTHER

• University of Colorado, Denver

  collaborator OTHER

• Boston Children's Hospital

  collaborator OTHER

• Vanderbilt University

  collaborator OTHER

• University of South Florida

  collaborator OTHER

• International Rett Syndrome Foundation Rettsyndrome.org

  collaborator UNKNOWN

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

  collaborator NIH

• University of Alabama at Birmingham

  lead OTHER

Principal Investigators

• Eric Marsh, MD, PhD · Children's Hospital of Philadelphia

Eligibility

Min Age

2 Years

Max Age

65 Years

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2017-01-02

Primary Completion

2021-07-31

Completion

2021-07-31

Countries

• United States

Study Locations