Identifying biomarkers in Rett Syndrome

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

This study is trying to find specific brain signals in girls with Rett Syndrome to see how they differ from girls without the condition and how these signals relate to the severity of their symptoms over time.

Quick facts

• Study type: Observational
• Enrollment: 202 (estimated)
• Ages: 1 Year to 18 Years
• Sex: Female
• Sponsor: Children's Hospital of Philadelphia (other)
• Locations: 6 sites (Los Angeles, California and 5 other locations)
• Trial ID: NCT05932589 on ClinicalTrials.gov

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.

Who should consider this trial

Good fit: Ideal candidates include females aged 3-18 with a clinical diagnosis of RTT and a pathogenic variant in MECP2.

Not a fit: Patients with active medical conditions not typically found in RTT or those with duplications in MECP2 may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to the development of reliable biomarkers for monitoring disease progression and treatment efficacy in Rett Syndrome.

How similar studies have performed: Other studies have shown promise in identifying biomarkers for neurological disorders, but this specific approach in RTT is novel.

Eligibility criteria

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.

Where this trial is running

Los Angeles, California and 5 other locations

• 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

Conditions: Rett Syndrome, RTT, Rett Syndrome, Atypical, Biomarker, EEG, Evoked Potentials, MECP2