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.
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.
Study Type
OBSERVATIONAL
Enrollment
29
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
Change From Baseline in MeCP2 in the CSF
Time frame: Baseline and on Weeks 13, 26, 39, 52
Laboratory biomarkers for MECP2 Duplication
Proteomic analysis of plasma samples to determine biomarkers of disease progression.
Time frame: Baseline and on Weeks 13, 26, 39, 52
Change From Baseline in MECP2 Duplication Syndrome Severity Scale Across All Domains
Time frame: Baseline and on Weeks 13, 26, 39, 52, 78, 104
Change From Baseline in the Revised Motor Behavioral Assessment
Time frame: Baseline and on Weeks 13, 26, 39, 52, 78, 104
Change From Baseline in the Bayley Scales of Infant and Toddler Development, 3rd Edition
Time frame: Baseline and on Weeks 13, 26, 39, 52, 78, 104
Change From Baseline in Vineland Adaptive Behavior Scales 3rd Edition
Time frame: Baseline and on Weeks 13, 26, 39, 52, 78, 104
Change From Baseline in Observer Reported Communication Ability Measure
Time frame: Baseline and on Weeks 13, 26, 39, 52, 78, 104
Change From Baseline in Quality-of-Life Inventory-Disability Score
Time frame: Baseline and on Weeks 13, 26, 39, 52, 78, 104
Change From Baseline in the Frequency of Seizures
Time frame: Baseline and on Weeks 13, 26, 39, 52, 78, 104
Change From Baseline in Global Assessment of Severity of Epilepsy Scale Score
Time frame: Baseline and on Weeks 13, 26, 39, 52, 78, 104
Change From Baseline in Auditory Evoked Potential
Time frame: Baseline and on Weeks 13, 26, 39, 52, 78, 104
Change From Baseline in Visual Evoked Potentials
Time frame: 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
Time frame: Baseline and on Weeks 13, 26, 39, 52, 78, 104
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