Rett Syndrome Clinical Research Center of Excellence

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Children’s Hospital of Philadelphia is part of a multisite research collaborative (lead site: University of Alabama at Birmingham) that strives to advance clinical care, treatments, and ultimately a cure for Rett syndrome and the related Developmental Encephalopathies. The work at these Clinical Research Centers of Excellence revolves around the Natural History of Rett Syndrome and Related Disorders trial, which collects detailed clinical data about sleep, breathing, development, motor function, behavioral data, and general medical care. The collaborative will set stage for clinical trials and other translational research projects, including the development of novel biomarkers. CHOP’s Rett clinic is part of the Division of Neurology in Department of Pediatrics.

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Research Project Highlights

Many ongoing clinical trials at CHOP — observational and interventional — are working toward a treatment/cure for Rett syndrome and its related disorders.

  • Rett NIH Natural History Study
  • Rett NIH Electrophysiological biomarkers study (CHOP is lead site)
  • Rett NIH Molecular biomarkers study
  • Using wearable technologies to advance clinical trials (CHOP is only site)
  • Multiple industry-sponsored clinical interventional trials
Leader
Eric D. Marsh

Eric D. Marsh, MD, PhD