Natural History Study for MPS IMC and MPS MID

$7,589U54FY2018NSNIH

University Of Minnesota, Minneapolis MN

Investigators

Linked publications & trials

Paper 38964050 Paper 38524130 Paper 38184429 Paper 38183037 Paper 38173710 Paper 38168318 Paper 38112342 Paper 37774924 Paper 37645970 Paper 37026764 Paper 36950806 Paper 36840680 Paper 36481125 Paper 36056771 Paper 35901858 Paper 35483528 Paper 35304037 Paper 35268433 Paper 35012890 Paper 34453334 Paper 34313725 Paper 33957983 Paper 33728251 Paper 33495531 Paper 33317989 Paper 33268510 Paper 33240792 Paper 32849613 Paper 32518148 Paper 32300063 Paper 32146219 Paper 32127409 Paper 31899940 Paper 31896760 Paper 31839529 Paper 31761523 Paper 31741826 Paper 31630958 Paper 31613991 Paper 31434105 Paper 31367523 Paper 31304092 Paper 31240167 Paper 31152869 Paper 31019279 Paper 30655185 Paper 30620337 Paper 30323181 Paper 30236619 Paper 30219631 Paper 30214072 Paper 30119717 Paper 29751845 Paper 29517765 Paper 29397290 Paper 29396849 Paper 29352662 Paper 29289479 Paper 29227985 Paper 29198892 Paper 29198891 Paper 29122469 Paper 29050825 Paper 28983455 Paper 28951071 Paper 28923682 Paper 28814660 Paper 28756410 Paper 28676062 Paper 28648664 Paper 28610913 Paper 28503578 Paper 28502768 Paper 28495044 Paper 28476546 Paper 28294991 Paper 28211988 Paper 28119033 Paper 27742266 Paper 27638603 Paper 27557812 Paper 27556013 Paper 27493997 Paper 27408821 Paper 27194034 Paper 27114914 Paper 27114913 Paper 27081853 Paper 26986213 Paper 26918231 Paper 26873528 Paper 26822727 Paper 26702793 Paper 26693141 Paper 26303610 Paper 26167453 Paper 26095521 Paper 26017010 Paper 25840006 Paper 25770355

Abstract

The overall aim of this project is to expand our knowledge of the clinical features of MPS NIC and MPS HID disease by carrying out a prospective natural history study. We have identified 15 patients with MPS INC and 2 patients with MPSIIID. During the course of the study, we will determine the genotype and the residual enzyme activity, as well as do periodic measurements by neurocognitive testing, measure glycosaminoglycans in urine, observations of clinical status, and use brain imaging to document the course of the disease. Our hypothesis is that disease progression will be manifested by neurocognitive decline, and will correlate with genotype and/or residual enzyme activity, as well as with an increase in glycosaminoglycan levels in urine.

View original record on NIH RePORTER →