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.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Specialized Center--Cooperative Agreements (U54)
Project #
2U54NS065768-06
Application #
8907075
Study Section
Special Emphasis Panel (ZTR1-CI-8 (01))
Program Officer
Morris, Jill A
Project Start
Project End
Budget Start
2014-09-30
Budget End
2015-07-31
Support Year
6
Fiscal Year
2014
Total Cost
$7,615
Indirect Cost
$2,605

  Institution

Name
University of Minnesota Twin Cities
Department
Type
DUNS #
555917996
City
Minneapolis
State
MN
Country
United States
Zip Code
55455

  Publications

Eisengart, Julie B; Rudser, Kyle D; Xue, Yong et al. (2018) Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison. Genet Med 20:1423-1429
Kazi, Zoheb B; Desai, Ankit K; Troxler, R Bradley et al. (2018) An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease. Genet Med :
Schiffmann, Raphael; Swift, Caren; McNeill, Nathan et al. (2018) Low frequency of Fabry disease in patients with common heart disease. Genet Med 20:754-759
Shapiro, Elsa; Ahmed, Alia; Whitley, Chester et al. (2018) Observing the advanced disease course in mucopolysaccharidosis, type IIIA; a case series. Mol Genet Metab 123:123-126
Ahrens-Nicklas, Rebecca; Schlotawa, Lars; Ballabio, Andrea et al. (2018) Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement. Mol Genet Metab 123:337-346
Ou, Li; Przybilla, Michael J; Whitley, Chester B (2018) Metabolomics profiling reveals profound metabolic impairments in mice and patients with Sandhoff disease. Mol Genet Metab :
McIntosh, Paul T; Hobson-Webb, Lisa D; Kazi, Zoheb B et al. (2018) Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy. Mol Genet Metab 123:85-91
Nestrasil, Igor; Ahmed, Alia; Utz, Josephine M et al. (2018) Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study. Mol Genet Metab 123:97-104
Ou, Li; Przybilla, Michael J; Koniar, Brenda et al. (2018) RTB lectin-mediated delivery of lysosomal ?-l-iduronidase mitigates disease manifestations systemically including the central nervous system. Mol Genet Metab 123:105-111
Desai, Ankit K; Walters, Crista K; Cope, Heidi L et al. (2018) Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation. Mol Genet Metab 123:92-96

Showing the most recent 10 out of 118 publications