ClinicalTrials.gov record NCT05932589
Neurophysiologic Biomarkers in Rett Syndrome
Characterization of Translatable Neurophysiological Biomarkers to Enhance Therapeutic Development in Rett Syndrome
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This observational, prospective study compares females with Rett syndrome to age‑matched typically developing females. Participants have repeated EEG recordings including auditory and visual evoked potentials (up to eight sessions). The study looks for brain-measure biomarkers, whether they change over time or with clinical status, and how they relate to clinical severity.
What it is studying. The study is testing whether measures from EEG and from auditory and visual evoked potentials can serve as candidate neurophysiologic biomarkers in Rett syndrome. It will examine whether those measures change when clinical status changes, whether they are stable in clinically stable individuals, and whether they correlate with disease stage and overall clinical severity. The project also tests recording procedures, electrode types and placement, and ways to reduce movement and artifact to establish best practices.
What the researchers hope to learn. Identify candidate neurophysiologic biomarkers usable in intervention or translational studies; provide insight into abnormal synaptic activity and RTT pathogenesis; correlate neurophysiological parameters with disease stage and clinical severity; establish best practices for EEG/EP recording in this population.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
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.
Interventions being studied
Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.
- Other
- EEG and Auditory and Visual Evoked Potentials (AEP and VEP)
- Clinical assessment
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
Inclusion criteria
- Rett Group: Females ages 3-18 (inclusive) with a clinical diagnosis of RTT with a likely pathogenic or known pathogenic variant in MECP2.
- 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.
- 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:
- Presence of a duplication in MECP2 or any other identified pathogenic mutation in another gene.
- Active medical conditions not typically found in RTT.
- Typically Developing Group:
- Score below norms on the performance tests
- Have a known neurological disorder (excluding migraine)
- Being on neuroactive medications.
Study description and what participation involves
The study's detailed description, as published on ClinicalTrials.gov.
Detailed description from the registry
The main goal of the project is to identify potential biomarkers that can become measures for intervention and other translational studies and, at the same time, provide insight into abnormal synaptic activity and pathogenesis of RTT. Therefore, the proposed assessments will be performed with females with RTT and age matched typically developing females. These electrophysiological assessments will be compared to established clinical outcome measures from previous work in the NIH funded Rett and Rett related disorders natural history study. The neurophysiological parameters for RTT will be correlated with each other and also to disease staging, overall clinical severity scores and through exploratory analyses with specific clinical features. The investigators will also be testing procedures to perform the recordings, electrode types and placement, and ways to reduce movement and artifact within the data to establish best practices.
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
Participants will attend up to eight standardized sessions to have resting EEG recordings and auditory and visual evoked‑potential testing (AEP and VEP) using scalp electrodes. Females with Rett will also have established clinical outcome measures collected; typically developing controls may complete age‑appropriate screening questionnaires or performance tests for eligibility. Sessions involve wearing an EEG cap and sitting or resting while sounds and visual stimuli are presented, with staff using different electrode setups and methods to reduce movement and recording artifact as part of the study procedures.
How the study is structured. A prospective case-control observational study. Females with Rett syndrome and age-matched typically developing females undergo up to eight standardized sessions of resting EEG and auditory and visual evoked-potential recordings. RTT participants also receive established clinical assessments. Investigators compare the EEG/EP measures between groups and track changes over time.
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
- The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
- Which of the eligibility criteria would need to be checked with tests before I could join?
More on Rett syndrome
Important dates
- Study start
- Oct 11, 2023
- Primary completion
- Mar 31, 2028 (estimated)
- Study completion
- Mar 31, 2029 (estimated)
- Target enrollment
- 202 participants (estimated)
- Last updated on registry
- Oct 20, 2025
- Data verified
- Oct 10, 2026
Sponsor and research team
The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.
- Lead sponsor
- Children's Hospital of Philadelphia
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS)
- Vanderbilt University Medical Center
Central study contact
If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.
- Holly Dubbs, MS. CGC 📞 215-590-1719 ✉ dubbsh@chop.edu
Participating sites (6)
- Children's Hospital of Los AngelesRecruiting
Los Angeles, California, 90027 · United States
- Shefali Spurling Jeste, MD
- Payal Kenia Gu, MD
- Children's Hospital ColoradoRecruiting
Aurora, Colorado, 80045 · United States
- Timothy Benke, MD, PhD
- Boston Children's HospitalRecruiting
Brookline, Massachusetts, 02445 · United States
- April Levin, MD
- David Lieberman, MD, PhD
- Children's Hospital of PhiladelphiaRecruiting
Philadelphia, Pennsylvania, 19104 · United States
- Holly Dubbs, MS, CGC · 215-590-1719 · dubbsh@chop.edu
- Eric Marsh, MD, PhD
- Vanderbilt University Medical CenterRecruiting
Nashville, Tennessee, 37232 · United States
- Nicole Thompson · 615-343-4586 · Nicole.i.thompson@vumc.org
- Jeffrey Neul, MD, PhD
- Texas Children's HospitalRecruiting
Houston, Texas, 77030 · United States
- Bernhard Suter, MD
Terms used on this page · explanations by MedicalUpdates.ai
- biomarkers
- Something measurable in the body, such as a blood test result or an imaging finding, that indicates how a condition or treatment is behaving.
- Inclusion Criteria
- The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
- Exclusion Criteria
- The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
- outcome measures
- Something the study measures to judge its results, such as a symptom score, a blood test or survival. Outcomes are grouped as primary, secondary and sometimes exploratory.
- natural history study
- A study that follows how a condition changes over time without assigning an experimental treatment. It may involve study visits and tests, and is often used to plan future trials.
The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.
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