Observational Study to Characterize Biomarkers and Disease Progression in Participants With Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome
Stopped early
Conditions studied: Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome
In brief
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.
Key facts
- Study ID
- NCT06014541
- Run by
- Ionis Pharmaceuticals, Inc.
- People needed
- 29
- Starts
- 2023-10-03
- Expected to finish
- 2025-10-07
- Last updated by the study team
- 2026-04-09
Who can join
Age: 0 and older, up to 65. Sex: male. Healthy volunteers: not accepted.
Where it is running
- UCSD - Rady Children's Hospital — San Diego, California, United States
- Gillette Children's Specialty Healthcare — Saint Paul, Minnesota, United States
- Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States
- Vanderbilt University Medical Center — Nashville, Tennessee, United States
- Baylor College of Medicine — Houston, Texas, United States
Full record on ClinicalTrials.gov
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