Observing biomarkers and disease progression in MECP2 Duplication Syndrome
A Prospective and Retrospective Observational/Non-interventional Study to Characterize Biomarkers and Disease Progression in Patients With MECP2 Duplication Syndrome
This study is trying to see how certain markers in blood and spinal fluid change over time in people with MECP2 Duplication Syndrome and how it affects their quality of life and seizures.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 40 (estimated) |
| Ages | 1 Month to 65 Years |
| Sex | Male |
| Sponsor | Ionis Pharmaceuticals, Inc. Industry-sponsored |
| Locations | 5 sites (San Diego, California and 4 other locations) |
| Trial ID | NCT06014541 on ClinicalTrials.gov |
What this trial studies
This observational study aims to assess changes in biomarkers related to MECP2 Duplication Syndrome over time, focusing on cerebrospinal fluid and blood samples. It will evaluate clinical performance through clinician-reported measures and caregiver-reported outcomes, including quality of life and seizure frequency. The study will involve up to 40 participants who will undergo various assessments over approximately 110 weeks, utilizing both prospective and retrospective data collection methods.
Who should consider this trial
Good fit: Ideal candidates include males aged 1 month to 65 years with a confirmed diagnosis of MECP2 Duplication Syndrome.
Not a fit: Patients with significant medical abnormalities or contraindications for study procedures may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding of MECP2 Duplication Syndrome and support the development of targeted therapies.
How similar studies have performed: While this approach is observational and builds on existing knowledge, similar studies have shown promise in understanding genetic conditions and their biomarkers.
Eligibility criteria
Show full inclusion / exclusion criteria
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).
Where this trial is running
San Diego, California and 4 other locations
- UCSD - Rady Children's Hospital — San Diego, California, United States (Recruiting)
- Gillette Children's Specialty Healthcare — Saint Paul, Minnesota, United States (Recruiting)
- Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States (Recruiting)
- Vanderbilt University Medical Center — Nashville, Tennessee, United States (Recruiting)
- Baylor College of Medicine — Houston, Texas, United States (Recruiting)
Study contacts
- Study coordinator: Ionis Pharmaceuticals, Inc.
- Email: ionisMDSNaturalHistorystudy@clinicaltrialmedia.com
- Phone: (844) 662-0293
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.