Health TrialsbyHealthPanel

Neurophysiologic Biomarkers in Rett Syndrome

ConditionsRett SyndromeRTTRett Syndrome, Atypical
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexFemale
Age1-18
SponsorChildren's Hospital of Philadelphia

About this trial

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.

Eligibility criteria

This trial accepts healthy volunteers

Qualifiers

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).

Disqualifiers

Presence of a duplication in MECP2 or any other identified pathogenic mutation in another gene.

Active medical conditions not typically found in RTT.

Score below norms on the performance tests

Have a known neurological disorder (excluding migraine)

Trial population

Enrolled participants with Rett syndrome will include individuals receiving clinical care through the Rett Syndrome clinics at participating sites. Typically developing individuals will be recruited using study recruitment centers or family members of Rett participants at each site. Each of the sites are International Rett Syndrome Foundation Centers of Excellence (Rettsyndrome.org).

Trial design

Design model

Case-control

Time perspective

Prospective

Treatments tested in this trial

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

    Other intervention

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

  • Clinical assessment

    Other intervention

    Established clinical measures for RTT will be collected for RTT participants

Treatment groups

202 Participants
are divided into 2 treatment groups
Group A: RTT Females2 interventions
Group B: Controls1 intervention

Trial outcomes

Primary outcomes

1

Auditory Evoked Potential (AEP) latency (ms)

Calculated N1, P1 latencies in Cz and other electrodes \[posterior temporal region (T5/P3/T3) electrodes\], will be used for analysis.

Time frame
5 years
2

Auditory Evoked Potential (AEP) amplitude

Amplitude of P1, P2 and N1 peaks (uV)

Time frame
5 years
3

Visual Evoked Potential (VEP) latencies (ms)

The latencies of the N1, P1, and N2 components will be identified primarily at occipital electrodes with Oz will be the primary electrode of analysis. N1-P1 time will be analyzed.

Time frame
5 years
4

Visual Evoked Potential (VEP) amplitude

N1-P1 amplitude at Oz and other occipital electrodes will be calculated.

Time frame
5 years

Secondary outcomes

1

AEP spectral analysis, dipole determination and spatial distribution

spectral analysis of the individual waveforms, dipole determination of N1 and P1 peaks and spatial distribution of peak values.

Time frame
5 years
2

VEP spectral analysis, dipole determination and spatial distribution

spectral analysis of the individual waveforms, dipole determination of N1 and P1 peaks and spatial distribution of peak values.

Time frame
5 years

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Children's Hospital of Philadelphia

Lead sponsor

National Institute of Neurological Disorders and Stroke (NINDS)

Collaborator

Vanderbilt University Medical Center

Collaborator

Source ClinicalTrials.gov
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