Observational Study to Characterize Biomarkers and Disease Progression in Participants With Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome
- Conditions
- Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome
- Registration Number
- NCT06014541
- Lead Sponsor
- Ionis Pharmaceuticals, Inc.
- Brief 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.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- Male
- Target Recruitment
- 40
Not provided
Not provided
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Change From Baseline in Observer Reported Communication Ability Measure Baseline and on Weeks 13, 26, 39, 52, 78, 104 Change From Baseline in MeCP2 in the CSF Baseline and on Weeks 13, 26, 39, 52 Change From Baseline in Vineland Adaptive Behavior Scales 3rd Edition Baseline and on Weeks 13, 26, 39, 52, 78, 104 Change From Baseline in the Frequency of Seizures Baseline and on Weeks 13, 26, 39, 52, 78, 104 Change From Baseline in Global Assessment of Severity of Epilepsy Scale Score Baseline and on Weeks 13, 26, 39, 52, 78, 104 Change From Baseline in Quality-of-Life Inventory-Disability Score Baseline and on Weeks 13, 26, 39, 52, 78, 104 Laboratory biomarkers for MECP2 Duplication Baseline and on Weeks 13, 26, 39, 52 Proteomic analysis of plasma samples to determine biomarkers of disease progression.
Change From Baseline in MECP2 Duplication Syndrome Severity Scale Across All Domains Baseline and on Weeks 13, 26, 39, 52, 78, 104 Change From Baseline in the Revised Motor Behavioral Assessment Baseline and on Weeks 13, 26, 39, 52, 78, 104 Change From Baseline in the Bayley Scales of Infant and Toddler Development, 3rd Edition Baseline and on Weeks 13, 26, 39, 52, 78, 104
- Secondary Outcome Measures
Name Time Method Change From Baseline in Auditory Evoked Potential Baseline and on Weeks 13, 26, 39, 52, 78, 104 Perform a retrospective chart review of the participant's medical history and family history to characterize the natural history of MDS Baseline and on Weeks 13, 26, 39, 52, 78, 104 Change From Baseline in Visual Evoked Potentials Baseline and on Weeks 13, 26, 39, 52, 78, 104
Trial Locations
- Locations (5)
UCSD - Rady Children's Hospital
🇺🇸San Diego, California, United States
Children's Hospital of Philadelphia
🇺🇸Philadelphia, Pennsylvania, United States
Baylor College of Medicine
🇺🇸Houston, Texas, United States
Gillette Children's Specialty Healthcare
🇺🇸Saint Paul, Minnesota, United States
Vanderbilt University Medical Center
🇺🇸Nashville, Tennessee, United States