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

Description

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.

Conditions

Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome

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Study Overview

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Study Details

Study overview

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.

A Prospective and Retrospective Observational/Non-interventional Study to Characterize Biomarkers and Disease Progression in Patients With MECP2 Duplication Syndrome

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

Condition
Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome
Intervention / Treatment

-

Contacts and Locations

San Diego

UCSD - Rady Children's Hospital, San Diego, California, United States, 92123

Saint Paul

Gillette Children's Specialty Healthcare, Saint Paul, Minnesota, United States, 55101

Philadelphia

Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States, 19104

Nashville

Vanderbilt University Medical Center, Nashville, Tennessee, United States, 37203

Houston

Baylor College of Medicine, Houston, Texas, United States, 77030

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

    Ages Eligible for Study

    1 Month to 65 Years

    Sexes Eligible for Study

    MALE

    Accepts Healthy Volunteers

    No

    Collaborators and Investigators

    Ionis Pharmaceuticals, Inc.,

    Study Record Dates

    2026-06