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

NCT06014541 · Status: TERMINATED · Type: OBSERVATIONAL · Enrollment: 29

Last updated 2026-04-09

No results posted yet for this study

Summary

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.

Conditions

  • Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome

Sponsors & Collaborators

  • Ionis Pharmaceuticals, Inc.

    lead INDUSTRY

Eligibility

Min Age
1 Month
Max Age
65 Years
Sex
MALE
Healthy Volunteers
No

Timeline & Regulatory

Start
2023-10-03
Primary Completion
2025-10-07
Completion
2025-10-07

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06014541 on ClinicalTrials.gov