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Rett Syndrome clinical trials at UCSD

2 in progress, 1 open to eligible people

Showing trials for
  • Observational Study to Characterize Biomarkers and Disease Progression in Participants With Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome

    open to eligible males ages 1 month to 65 years

    The purpose of the study is to prospectively assess longitudinal changes in biomarkers (MECP2, potential biomarkers of target engagement and disease activity) in cerebrospinal fluid (CSF) and blood; characterize longitudinal changes in performance on clinical scales (clinician-reported measures of neurodevelopment and functioning) and caregiver-reported outcome assessments (communication, gastrointestinal, social-emotional-adaptive behavioral measures); evaluate longitudinal changes in caregiver-reported health-related quality-of-life measures; and assess the frequency, type, and severity of seizures over time.

    San Diego, California and other locations

  • TSHA-102 in Pediatric Females With Rett Syndrome (REVEAL Pediatric Study)

    Sorry, not currently recruiting here

    The REVEAL Pediatric Study is a multi-center, Phase 1/2 open-label, dose-escalation and dose-expansion study of TSHA-102, an investigational gene therapy, in pediatric females with Rett Syndrome. The safety, tolerability, and preliminary efficacy of two dose levels will be evaluated. The study duration is up to 6 years.

    La Jolla, California and other locations

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