Neurophysiologic Biomarkers in Rett Syndrome
Recruiting
Observational Study
Rett Syndrome
RTT
Rett Syndrome, Atypical
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
Healthy Volunteers Welcome
You do not need to have the condition being studied to take part.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- 1 – 18
- Sex
- Female
- Study type
- Observational
- Participants needed
- 202 (estimated)
- Sponsor
- Children's Hospital of Philadelphia · Other
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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 e…
Trial Locations
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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 …
Contacts