TOVA

Longitudinal studies in MPS disorders: a multicenter study of the lysosomal disease network, longitudinal studies of brain structure and function in MPS disorders

Principal Investigator:

Chester B. Whitley, PhD, MD (Department of Pediatrics)

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Abstract:

The purpose of this study is to examine the changes in the central nervous system over time in patients with MPS I, II, IV, VI, and VII in both structure and function. We have determined that localization in the brain of abnormal cognitive and behavioral attributes varies by the type of MPS disorder. We will be examining how changes in the brain over time reflects the natural course of the disease or the effects of past or currently administered treatment such as hematopoietic cell transplant, systemic enzyme replacement or intrathecal enzyme replacement.

We hypothesize that specific and localized neuroimaging, neuropsychological and neurobehavioral findings and their relationship will be distinct for each MPS disorder. Further, without appropriate treatment, functions will decline and structure will change over time specific to each disease and stage of disease. We hypothesize that treatments such as ERT, HCT, HCT+ERT, and palliative and rehabilitation therapies, will differentially affect brain structure, functions and quality of life. Finally, we hypothesize that for each MPS type, variables such as age at first treatment, severity of disease, medical events related and unrelated to the disease, mutation, family and environmental factors, sensory abnormalities, and sociodemographic variables will influence brain functional and structural outcomes as well as quality-of-life.