Recruiting

Neurophysiologic Biomarkers

Sponsor:

Children's Hospital of Philadelphia

Code:

NCT05932589

Conditions

Rett Syndrome

RTT

Rett Syndrome, Atypical

Eligibility Criteria

Sex: Female

Age: 1 - 18

Healthy Volunteers: Accepted

Interventions

EEG and Auditory and Visual Evoked Potentials (AEP and VEP)

Clinical assessment

Study Details

Brief summary:

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.

Conditions

Rett Syndrome

RTT

Rett Syndrome, Atypical

Study ID

NCT05932589

Start date

Oct 11, 2023

Status verified date

Oct, 2025

Completion date

Mar 31, 2029

Anticipated

Primary completion date

Mar 31, 2028

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: Female

Age: 1 - 18

Healthy Volunteers: Accepted

Inclusion Criteria:

1. Rett Group: Females ages 3-18 (inclusive) with a clinical diagnosis of RTT with a likely pathogenic or known pathogenic variant in MECP2.
2. Likely Rett Group: Females from 1 year to < 5 years of age with MECP2 variant if regression has not yet occurred or child is within 6 months of last skill loss.
3. Typically developing (TD) Group: Females age matched to RTT population (1-18) with no developmental or cognitive concerns as assessed using the Child/Adult Behavioral Checklist, Survey of Well-Being of Young Children (<5yo), or the Wide Range Achievement Test-4 (>5 yo).

Exclusion Criteria:

Rett and Likely Rett Groups:

1. Presence of a duplication in MECP2 or any other identified pathogenic mutation in another gene.
2. Active medical conditions not typically found in RTT.

Typically Developing Group:

1. Score below norms on the performance tests
2. Have a known neurological disorder (excluding migraine)
3. Being on neuroactive medications.

Study Design

Enrollment

202 participants

Anticipated

Interventions and Outcome Measures

Arms

RTT Females

Females with Rett Syndrome

Controls

Females with typical development

Interventions

EEG and Auditory and Visual Evoked Potentials (AEP and VEP)

Through up to eight standardized sessions, participants will undergo AEP and VEP, as well as resting state EEG.

Clinical assessment

Established clinical measures for RTT will be collected for RTT participants

Primary outcome measure

  • Auditory Evoked Potential (AEP) latency (ms) [ Time Frame: 5 years ]
  • Auditory Evoked Potential (AEP) amplitude [ Time Frame: 5 years ]
  • Visual Evoked Potential (VEP) latencies (ms) [ Time Frame: 5 years ]
  • Visual Evoked Potential (VEP) amplitude [ Time Frame: 5 years ]
  • EEG Analysis [ Time Frame: 5 years ]

Central Contacts and Locations

Central contacts

Holly Dubbs, MS. CGC

215-590-1719dubbsh@chop.edu

Locations

Children's Hospital of Los Angeles

Recruiting

Los Angeles, California, United States, 90027

Principal Investigator:

Shefali Spurling Jeste, MD

Children's Hospital Colorado

Recruiting

Aurora, Colorado, United States, 80045

Principal Investigator:

Timothy Benke, MD, PhD

Boston Children's Hospital

Recruiting

Brookline, Massachusetts, United States, 02445

Principal Investigator:

April Levin, MD

Children's Hospital of Philadelphia

Recruiting

Philadelphia, Pennsylvania, United States, 19104

Contacts

Holly Dubbs, MS, CGC

215-590-1719dubbsh@chop.edu

Principal Investigator:

Eric Marsh, MD, PhD

Vanderbilt University Medical Center

Recruiting

Nashville, Tennessee, United States, 37232

Contacts

Principal Investigator:

Jeffrey Neul, MD, PhD

Texas Children's Hospital

Recruiting

Houston, Texas, United States, 77030

Principal Investigator:

Bernhard Suter, MD

More Information

Sponsor

Children's Hospital of Philadelphia

Last update posted

Oct 20, 2025

Last verified

Oct, 2025

Keywords

  • Biomarker
  • EEG
  • Evoked Potentials
  • MECP2

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by Children's Hospital of Philadelphia on 2025-10-20.