New study aims to unlock secrets of rare genetic disorder

NCT ID NCT06014541

First seen Apr 06, 2026 · Last updated May 15, 2026 · Updated 2 times

Summary

This study looked at people with MECP2 duplication syndrome, a rare genetic condition that affects development and can cause seizures. Researchers measured changes in biomarkers from blood and spinal fluid, and tracked symptoms using surveys and clinical tests. The goal was to better understand how the disease progresses over time.

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Contacts and locations

Locations

  • Baylor College of Medicine

    Houston, Texas, 77030, United States

  • Children's Hospital of Philadelphia

    Philadelphia, Pennsylvania, 19104, United States

  • Gillette Children's Specialty Healthcare

    Saint Paul, Minnesota, 55101, United States

  • UCSD - Rady Children's Hospital

    San Diego, California, 92123, United States

  • Vanderbilt University Medical Center

    Nashville, Tennessee, 37203, United States

Conditions

Explore the condition pages connected to this study.