Observational Study to Characterize Biomarkers and Disease Progression in Participants With Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome
Terminated · NCT06014541
Conditions: Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome
At a glance
- Research payments reported, 2025
- $813,366
- U.S. investigators named
- 6
- Sites paid
- 6
- Planned or actual enrollment
- 29
About the trial
- Sponsor
- Ionis Pharmaceuticals, Inc.
- Dates
- Started 2023-10-03; completion 2025-10-07
- Results posted
- Not yet
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.
From ClinicalTrials.gov, last updated 2026-04-09. Full record, eligibility and contacts (opens in a new tab)
Industry funding
Ionis Pharmaceuticals, Inc. reported $813,366 in research payments for this study in 2025 (42 payments).
Research payments usually go to hospitals, universities and research sites to run a study, not to the investigators personally. A payment is not evidence of wrongdoing.
U.S. investigators named on this study
- Miguel Del Campo Casanelles, MD Medical Genetics · San Diego, CA
- Timothy Feyma, MD Child Neurology · Bloomington, MN
- Eric D. Marsh, M.D. Child Neurology · Philadelphia, PA
- Cary Fu, M.D. Child Neurology · Nashville, TN
- Jeffrey L. Neul, M.D., PH.D. Child Neurology · Nashville, TN
- Davut Pehlivan, M.D. Child Neurology · Houston, TX
Clinicians the company named as principal investigators in its Open Payments reports.
Sites paid to run it
- Baylor College of Medicine $309,060
- Vanderbilt University Medical Center, TN $242,793
- Children's Hospital of Philadelphia, PA $163,404
- The Regents of the University of California on Behalf of Its San Diego Campus $71,267
- Vanderbilt University Medical Center $15,252
- Gillette Children's $11,590
Sources: CMS Open Payments research payments (program year 2025) and ClinicalTrials.gov, U.S. National Library of Medicine.