RECRUITING

Neurophysiologic Biomarkers in Rett Syndrome

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

Characterization of Translatable Neurophysiological Biomarkers to Enhance Therapeutic Development in Rett Syndrome

Quick Facts

Study Start:2023-10-11
Study Completion:2029-03-31
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT05932589

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:1 Year to 18 Years
Sexes Eligible for Study:FEMALE
Accepts Healthy Volunteers:Yes
Standard Ages:CHILD, ADULT
Inclusion CriteriaExclusion Criteria
  1. 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. 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. 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).
  1. 1. Presence of a duplication in MECP2 or any other identified pathogenic mutation in another gene.
  2. 2. Active medical conditions not typically found in RTT.
  3. 1. Score below norms on the performance tests
  4. 2. Have a known neurological disorder (excluding migraine)
  5. 3. Being on neuroactive medications.

Contacts and Locations

Study Contact

Holly Dubbs, MS. CGC
CONTACT
215-590-1719
dubbsh@chop.edu

Principal Investigator

Eric Marsh, MD, PhD
PRINCIPAL_INVESTIGATOR
Children's Hospital of Philadelphia
Jeffrey Neul, MD, PhD
PRINCIPAL_INVESTIGATOR
Vanderbilt University Medical Cener

Study Locations (Sites)

Children's Hospital of Los Angeles
Los Angeles, California, 90027
United States
Children's Hospital Colorado
Aurora, Colorado, 80045
United States
Boston Children's Hospital
Brookline, Massachusetts, 02445
United States
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
United States
Vanderbilt University Medical Center
Nashville, Tennessee, 37232
United States
Texas Children's Hospital
Houston, Texas, 77030
United States

Collaborators and Investigators

Sponsor: Children's Hospital of Philadelphia

  • Eric Marsh, MD, PhD, PRINCIPAL_INVESTIGATOR, Children's Hospital of Philadelphia
  • Jeffrey Neul, MD, PhD, PRINCIPAL_INVESTIGATOR, Vanderbilt University Medical Cener

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2023-10-11
Study Completion Date2029-03-31

Study Record Updates

Study Start Date2023-10-11
Study Completion Date2029-03-31

Terms related to this study

Keywords Provided by Researchers

  • Biomarker
  • EEG
  • Evoked Potentials
  • MECP2

Additional Relevant MeSH Terms

  • Rett Syndrome
  • RTT
  • Rett Syndrome, Atypical