Lysosomal diseases are rare, heterogeneous conditions affecting individuals over a dispersed geographic area. In order to facilitate research serving this unique population the Administrative Unit of the Lysosomal Disease Network will serve several important functions. Composed of five """"""""Cores:"""""""" Administrative, Biostatistical, Neurobehaviroal, Neuroimaging, and Pharmacotherapy;the Units responsibilities are varied. The Administrative Unit will facilitate any communicationincluding go-to-meeting style web conferencesacross the Network. Members will assist all project PIs with regulatory and administrative responsibilities, including acting as liaison between PI and the DMCC. A newsletter will also be developed by members of this unit to highlight research and other accomplishments across Consortia. The Biostatistical Core has helped each PI with a proposed project in the development of the statistical needs for their work. With rare disease populations accurate statistical measurements are crucial and this core has the required expertise. Since almost all lysosomal conditions have component central nervous system disease the neuroimaging and neurobehavior cores provide essential consultation for all projects. In the first five years of this consortium, both cores made seminal discoveries regarding brain structure and function in lysosomal disease. New to the consortium this year is the Pharmacotherapy Core. Experts in the field of therapeutic development will be available to all members of the Network. Currently, all studies with treatment or other therapeutic regimens have consulted with the Core. All members of the Administrative Unit will assist the Training Unit in the implementation of new projects nad the mentoring of trainees.

Public Health Relevance

The Administrative Unit of the Lysosomal Disease Network will facilitate any and all core functions for all members of the Network. The Unit provides administrative, statistical, therapeutic, behavioral, and neurologic support. All members of the Unit will work with other project team members to successfully implement the goals of their individual projects

National Institute of Health (NIH)
National Institute of Neurological Disorders and Stroke (NINDS)
Specialized Center--Cooperative Agreements (U54)
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Special Emphasis Panel (ZTR1-CI-8 (01))
Program Officer
Morris, Jill A
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University of Minnesota Twin Cities
United States
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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
Sindelar, Miriam; Dyke, Jonathan P; Deeb, Ruba S et al. (2018) Untargeted Metabolite Profiling of Cerebrospinal Fluid Uncovers Biomarkers for Severity of Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2, Batten Disease). Sci Rep 8:15229
Shapiro, Elsa G; Whitley, Chester B; Eisengart, Julie B (2018) Beneath the floor: re-analysis of neurodevelopmental outcomes in untreated Hurler syndrome. Orphanet J Rare Dis 13:76
Ou, L; Przybilla, M J; Whitley, C B (2018) SAAMP 2.0: An algorithm to predict genotype-phenotype correlation of lysosomal storage diseases. Clin Genet 93:1008-1014
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 :

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