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Rare Diseases Clinical Research Network: Neurophysiological Correlates

Research Question:
What can we learn about Rett syndrome by studying biomarkers of the disease?

Basic Study Information

A biomarker, or biological marker is a measurable indicator of some biological state or condition. The overall purpose of this project is to advance understanding of the neurophysiological features of Rett syndrome (RTT), MECP2 Duplication (MECP2 Dup) and RTT-related disorders (CDKL5, FOXG1) to gain insight into disease pathogenesis, with an emphasis on identifying biomarkers of disease evolution and severity. This specific study is intertwined to the core study Natural History of Rett Syndrome and Related Disorders (RTT5211), which characterizes range of clinical involvement and genotype-phenotype correlations and will provide phenotypical data for determining the clinical relevance of the neurophysiologic parameters; study subjects here are co- and primarily enrolled in RTT5211. The proposed studies will serve as basis of future translational investigations, including further refinement of biomarkers, development of outcome measures, and clinical trials per se.

Study Contact Information

Study Coordinator: Alan Percy, MD
Phone: (205) 996-4927

Additional Study Details

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