Identifying biomarkers in Rett Syndrome

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to identify candidate biomarkers in individuals with Rett Syndrome (RTT) by measuring electrical activity in the brain through electroencephalograms (EEG) and evoked potentials. The study will compare findings from females with RTT to age-matched typically developing females to assess differences in neurophysiological parameters. Researchers will also explore the stability of these biomarkers over time and their correlation with clinical severity and disease staging. The ultimate goal is to establish reliable measures for future interventions and translational studies.

Why it matters

Who can join: the full rules

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 variant in another gene with a neurodevelopmental phenotype.
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.

Where it's running

• Children's Hospital of Los Angeles
  Los Angeles, California, United States Recruiting
• Children's Hospital Colorado
  Aurora, Colorado, United States Recruiting
• Boston Children's Hospital
  Brookline, Massachusetts, United States Recruiting
• Children's Hospital of Philadelphia
  Philadelphia, Pennsylvania, United States Recruiting
• Vanderbilt University Medical Center
  Nashville, Tennessee, United States Recruiting
• Texas Children's Hospital
  Houston, Texas, United States Recruiting

Study contacts

• Principal investigator: Eric Marsh, MD, PhD — Children's Hospital of Philadelphia
• Study coordinator: Holly Dubbs, MS, CGC
• Email: dubbsh@chop.edu
• Phone: 215-590-1719

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Registry for individuals with Rett syndrome

  This study is gathering information from people with Rett syndrome and their caregivers to help improve care and develop new treatments for the condition.

  Recruiting at 19 sites International Rett Syndrome Foundation · Birmingham, Alabama and 18 other locations · NCT05432349

• Auditory EEG and behavioral testing for people with Rett syndrome

  This project will record noninvasive EEG while people with Rett syndrome and matched controls listen to simple sounds to see how their brains process sound.

  Recruiting University of Rochester · Rochester, New York · NCT07569445

• Fenfluramine HCl for Rett Syndrome in a Phase 3 study

  This study tests whether fenfluramine hydrochloride helps people with Rett syndrome when compared to a placebo.

  Recruiting at 40 sites Phase 3 UCB Pharma · Little Rock, Arkansas and 39 other locations · NCT07503444

• Daily oral vorinostat for girls and young women with Rett syndrome

  This trial will try daily oral vorinostat at two escalating dose levels, using a four-week placebo baseline and an N-of-1 design so each participant serves as her own control, to see if the drug is safe and shows clinical or molecular benefit in girls and young women with typical Rett syndrome.

  Recruiting Phase 1 Unravel Biosciences, Inc. · Medellín · NCT07150013

• Efficacy of Bionetide for treating Rett syndrome in females

  This study is testing if an oral medication called Bionetide can help improve behavior and communication in girls and young women aged 5 to 20 with Rett syndrome.

  Recruiting at 18 sites Phase 3 Biomed Industries, Inc. · Phoenix, Arizona and 17 other locations · NCT06840496

• Assessing cognitive function in Rett syndrome patients receiving trofinetide treatment

  This study is testing how well eye-tracking tasks can measure cognitive abilities in people with Rett syndrome who are starting treatment with trofinetide.

  Recruiting University of Minnesota · Minneapolis, Minnesota · NCT06705816

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.