Niemann-Pick disease, type C (NPC) is a pan-ethnic, autosomal recessive lysosomal storage disease with a prevalence between 1/120,000 and 1/150,000. Because of the devastating effects of this illness on patients and families, the public health burden of this disease is disproportionate to its prevalence. Most patients experience a progressive dementia accompanied by vertical supranuclear gaze palsy ataxia, dysarthria, dysphagia, dystonia and in some cases, epilepsy and cataplexy. Several potential human therapeutic agents have been studied in vitro and in animal models of NPC. Before human therapeutic trials can be pursued, it is essential to define the clinical course of NPC, and to identify clinical, neuropsychological and laboratory markers of disease burden and progression. The purpose of this study is to test the hypothesis that patients with NPC will demonstrate a specific pattern of neurocognitive deficits that will be present prior to development of significant neurological deficits and that will correlate with disease progression. Subjects will be recruited from participants in studies at two network sites - the NIH Clinical Center and Mayo Clinic, and will be examined using a standardized set of instruments on an annual basis for the five years of the longitudinal study.
Niemann-Pick disease type C is a neurodegenerative LSD characterized by progressive cognitive loss;a natural history study is proposed to define the clinical course of the disease and identify markers that correlate with disease progression for future clinical trials.
|Mauer, Michael; Glynn, Emily; Svarstad, Einar et al. (2014) Mosaicism of podocyte involvement is related to podocyte injury in females with Fabry disease. PLoS One 9:e112188|
|Rumsey, Robin K; Rudser, Kyle; Delaney, Kathleen et al. (2014) Acquired autistic behaviors in children with mucopolysaccharidosis type IIIA. J Pediatr 164:1147-1151.e1|
|Schiffmann, Raphael; Forni, Sabrina; Swift, Caren et al. (2014) Risk of death in heart disease is associated with elevated urinary globotriaosylceramide. J Am Heart Assoc 3:e000394|
|Polgreen, Lynda E; Thomas, William; Fung, Ellen et al. (2014) Low bone mineral content and challenges in interpretation of dual-energy X-ray absorptiometry in children with mucopolysaccharidosis types I, II, and VI. J Clin Densitom 17:200-6|
|Polgreen, Lynda E; Thomas, William; Orchard, Paul J et al. (2014) Effect of recombinant human growth hormone on changes in height, bone mineral density, and body composition over 1-2 years in children with Hurler or Hunter syndrome. Mol Genet Metab 111:101-6|
|Stevenson, David A; Rudser, Kyle; Kunin-Batson, Alicia et al. (2014) Biomarkers of bone remodeling in children with mucopolysaccharidosis types I, II, and VI. J Pediatr Rehabil Med 7:159-65|
|Prater, Sean N; Banugaria, Suhrad G; Morgan, Claire et al. (2014) Letter to the Editors: Concerning "CRIM-negative Pompe disease patients with satisfactory clinical outcomes on enzyme replacement therapy" by Al Khallaf et al. J Inherit Metab Dis 37:141-3|
|Schiffmann, Raphael; Mayfield, Joan; Swift, Caren et al. (2014) Quantitative neuroimaging in mucolipidosis type IV. Mol Genet Metab 111:147-51|
|Wang, Raymond Y; Braunlin, Elizabeth A; Rudser, Kyle D et al. (2014) Carotid intima-media thickness is increased in patients with treated mucopolysaccharidosis types I and II, and correlates with arterial stiffness. Mol Genet Metab 111:128-32|
|Ahmed, Alia; Whitley, Chester B; Cooksley, Renee et al. (2014) Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the *-L-iduronidase gene in Hurler-Scheie syndrome. Mol Genet Metab 111:123-7|
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