Observational Study to Characterize Biomarkers and Disease Progression in Participants With Methy… (NCT06014541) | Clinical Trial Compass
TerminatedNot Applicable
Observational Study to Characterize Biomarkers and Disease Progression in Participants With Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome
Stopped: Sponsor decision to terminate study early due to sufficient data collected, the study objectives met and defined unmet need and disease trajectory in males with MECP2 duplication syndrome.
United States29 participantsStarted 2023-10-03
Plain-language 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.
Who can participate
Age range
1 Month – 65 Years
Sex
MALE
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Key Inclusion Criteria
* Participant has a diagnosis of MDS with genetic confirmation of MECP2 duplication (or triplication)
* Participant has a parent or caregiver (CG) ≥ 18 years old capable of providing informed consent (signed and dated), and able to attend all scheduled study visits and provide feedback regarding the participant's symptoms and performance as described in the protocol and be able to comply with all study requirements and activities
* Male ≥ 1 month and ≤ 65 years of age
* No contraindications for lumbar puncture (LP)'s, blood draws, sedation (if necessary) or other study activities
* Medically stable to complete the study and will tolerate sedation or general anesthesia and other study activities
Key Exclusion Criteria
* Clinically significant abnormalities in medical history (e.g., clinically significant renal, hepatic, or cardiac abnormalities; major surgery within 3 months of screening) or upon physical examination that could potentially impact the NH of MDS
* Unwillingness or inability to comply with study procedures, including follow up, as specified by this protocol, or unwillingness to cooperate fully with the Investigator
* Treatment with an investigational drug, gene therapy, stem cell therapy, biological agent, or device within 30 days of screening, or 5 half-lives of investigational agent, whichever is longer (participants cannot be concurrently enrolled in NH00006 and ION440-CS1).
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Change From Baseline in MeCP2 in the CSF
Timeframe: Baseline and on Weeks 13, 26, 39, 52
2
Laboratory biomarkers for MECP2 Duplication
Timeframe: Baseline and on Weeks 13, 26, 39, 52
3
Change From Baseline in MECP2 Duplication Syndrome Severity Scale Across All Domains
Timeframe: Baseline and on Weeks 13, 26, 39, 52, 78, 104
4
Change From Baseline in the Revised Motor Behavioral Assessment
Timeframe: Baseline and on Weeks 13, 26, 39, 52, 78, 104
5
Change From Baseline in the Bayley Scales of Infant and Toddler Development, 3rd Edition
Timeframe: Baseline and on Weeks 13, 26, 39, 52, 78, 104
6
Change From Baseline in Vineland Adaptive Behavior Scales 3rd Edition
Timeframe: Baseline and on Weeks 13, 26, 39, 52, 78, 104
7
Change From Baseline in Observer Reported Communication Ability Measure