Rett Syndrome

Pre-symptomatic Biomarkers of Rett Syndrome in Children with MECP2 Mutations

This study is a longitudinal EEG imaging study looking at the presymptomatic biomarkers of Rett syndrome. For this study, participants are brought to UNC Chapel Hill every 3 months for an EEG, behavioral assessments, and a medical exam. We are recruiting children aged 3-72 months and will cover costs associated with travel to and from UNC.

Goals of this research:

Along with the International Rett Syndrome Foundation (IRSF) we are aiming to research the early progression of Rett syndrome.

Who is eligible?

  • Infants who have tested positive for MECP2 mutations in newborn genetic screening who have yet to show symptoms of Rett syndrome

  • Infants between the ages of 3 months and 4 years who do not have a MECP2 mutation to serve as controls

What does participation involve?

You will be asked to commit roughly 2 years to this study in which you will come to UNC’s campus every 3-6 months to undergo an EEG and behavioral assessments of your child.

You will receive:

All travel costs to Chapel Hill, North Carolina will be covered by the study along with compensation of up to $75 per visit.

Contact to participate:

If you are interested in enrolling or have any questions, please fill out the interest form OR reach out to our study coordinators: