Rare Diseases Clinical Research Network: Neurophysiological CorrelatesResearch 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
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
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
serve as basis of future translational investigations, including further refinement
biomarkers, development of outcome measures, and clinical trials per se.
Study Contact InformationStudy Coordinator: Alan Percy, MD
Phone: (205) 996-4927
Additional Study Details
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