Rett Syndrome clinical trials at UCSD
3 in progress, 2 open to eligible people
TSHA-102 in Adolescent and Adult Females with Rett Syndrome (REVEAL Adult Study)
open to eligible females ages 12 years and up
The REVEAL Adult Study is a multi-center, Phase 1/2 open-label, dose-escalation study of TSHA-102, an investigational gene therapy, in adult females with Rett syndrome. The safety, tolerability, and preliminary efficacy of two dose levels will be evaluated. The study duration is estimated to be up to 63 months.
La Jolla, California and other locations
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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