Observational Study to Characterize Biomarkers and Disease Progression in Participants With Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome

NCT ID: NCT06014541

Last Updated: 2025-06-22

Basic Information

• Recruitment Status: ACTIVE_NOT_RECRUITING
• Total Enrollment: 29 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2023-10-03
• Study Completion Date: 2026-06-30

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.

Conditions

Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: OTHER

Study Groups

MECP2 Duplication Syndrome Disease Participants

Participants with a diagnosis of MDS with genetic confirmation of MECP2 duplication (or triplication) will undergo CSF and blood collection, electrophysiological and clinical assessments, up to Week 104 as a part of prospective study. Each participant's medical and family history data will be collected retrospectively from available medical notes and charts, from birth up to the end of the study (up to 110 weeks). Participants will have an option to participate in an optional sub-study that will capture pre-defined list of activities at home video.

No interventions assigned to this group

Eligibility Criteria

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

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).

• Minimum Eligible Age: 1 Month
• Maximum Eligible Age: 65 Years
• Eligible Sex: MALE
• Accepts Healthy Volunteers: No

Sponsors

Ionis Pharmaceuticals, Inc.

INDUSTRY

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

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

Countries

United States

Other Identifiers

NH00006

Identifier Type: -

Identifier Source: org_study_id