Neurophysiologic Biomarkers in Rett Syndrome

Launched by CHILDREN'S HOSPITAL OF PHILADELPHIA · Jun 27, 2023

Keywords

ClinConnect Summary

This clinical trial, titled "Neurophysiologic Biomarkers in Rett Syndrome," is looking to better understand Rett Syndrome (RTT) by identifying specific markers in the brain that may change over time or with different levels of severity in the condition. The researchers aim to find out if these brain markers fluctuate when a person's condition changes, remain stable when a person is doing well, and how they relate to the seriousness of RTT.

To participate, females aged 3 to 18 with a confirmed diagnosis of RTT or those aged 1 to under 5 who show early signs of the condition may be eligible. Additionally, females in the same age range who are developing typically and have no concerns about their development can also take part in the study. Participants will undergo a test called an electroencephalogram (EEG), which measures electrical activity in the brain. This study is currently looking for participants, and the information gathered will help researchers understand RTT better and potentially improve care for those affected.

Gender

FEMALE

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.