NCT06014541

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

A Prospective and Retrospective Observational/Non-interventional Study to Characterize Biomarkers and Disease Progression in Patients With MECP2 Duplication Syndrome

• Status: Terminated
• Phase: —
• Study type: Observational
• Enrollment: 29 (actual)
• Sponsor: Ionis Pharmaceuticals, Inc. · Industry
• Sex: Male
• Age: 1 Month – 65 Years
• Healthy volunteers: Not accepted

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.

Detailed description

This is a multi-center, non-randomized, non-interventional prospective and retrospective study in up to 40 participants with MECP2 duplication syndrome (MDS) who can undergo general anesthesia or conscious sedation to collect fluid biomarkers (CSF and blood), undergo electrophysiological assessments (electroencephalogram \[EEG\], evoked potentials \[EP\], pupillometry), clinical assessments and caregiver reported outcomes measures, to be used in support of the development of therapies for MDS. The study duration for each participant will be approximately 110 weeks.

Conditions

• Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome

Timeline

• Start date: 2023-10-03
• Primary completion: 2025-10-07
• Completion: 2025-10-07
• First posted: 2023-08-28
• Last updated: 2026-04-09

Locations

5 sites across 1 country: United States