Neurophysiologic Biomarkers in Rett Syndrome

Recruiting at 5 trial locations

Overseen By Holly Dubbs, MS. CGC

Age: < 65

Sex: Female

Trial Phase: Academic

Sponsor: Children's Hospital of Philadelphia

Must not be taking: Neuroactive medications

Disqualifiers: MECP2 duplication, Other mutations, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: 5

202 Participants Needed

Trial Summary

What is the purpose of this trial?

The goal of this observational study is to identify candidate biomarkers in individuals with Rett Syndrome (RTT). The main questions it aims to answer are: * Do these biomarkers change during clinical changes in individuals with RTT? * Are biomarkers stable over time in clinically stable individuals? * Do these biomarkers correlate with severity of RTT? Participants will be asked to undergo an electroencephalogram (EEG) with measurements of Evoked Potentials (EP) to measure electrical activity in the brain. Researchers will compare findings in individuals with RTT to those in typically developing individuals to see if there are differences between the two groups.

Research Team

Eric Marsh, MD, PhD

Principal Investigator

Children's Hospital of Philadelphia

Jeffrey Neul, MD, PhD

Principal Investigator

Vanderbilt University Medical Cener

Eligibility Criteria

Inclusion Criteria

Rett females: Ages 1-18 (inclusive) with a clinical diagnosis of RTT with a likely pathogenic or known pathogenic variant in MECP2.

Typically developing (TD) females: Age matched to RTT population (1-18) with no developmental or cognitive concerns as assessed using the Child/Adult Behavioral Checklist, Ages and Stages questionnaire (<5yo), or the Wide Range Achievement Test-4 (>5 yo).

Timeline

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Assessment

Participants undergo EEG and Evoked Potentials measurements to identify neurophysiological biomarkers

5 years

Regular assessments over 5 years

Follow-up

Participants are monitored for stability and changes in biomarkers over time

5 years

Treatment Details

Participant Groups

Group I: RTT Females Experimental Treatment 2 Interventions

Females with Rett Syndrome

Group II: Controls Experimental Treatment 1 Intervention

Females with typical development

Who Is Running the Clinical Trial?

Children's Hospital of Philadelphia

Lead Sponsor

Trials

749

Recruited

11,400,000+

National Institute of Neurological Disorders and Stroke (NINDS)

Collaborator

Trials

1,403

Recruited

655,000+

Vanderbilt University Medical Center

Collaborator

Trials

922

Recruited

939,000+