The proposed study is a multi-institutional, 5-year, longitudinal study of bone disease in children with MRS I, II, and VI. The overall goal is to characterize bone disease in MRS I, II, and VI by measurements of bone architecture, density, strength, metabolism, and mobility. This will be done using the techniques of dual energy x-ray absorptiometry (DXA), peripheral quantitative computer tomography (pQCT), and serum markers of bone metabolism.
The specific aims are: 1) To characterize the bone health and bone architecture, density, strength, and mobility, and to document the natural progression of bone disease using DXA, peripheral quantitative computer tomography (pQCT), biomarkers of bone turnover, and tests of mobility. 2) In a subset of the population (height <-2 SDS) we aim to assess the efficacy of human growth hormone (hGH) on increasing growth velocity, and the impact on bone health and architecture, mobility, and neurocognitive outcomes during 2 study years. 3) To standardize measurements of DXA, pQCT, and mobility between the University of Minnesota and the University of Utah such that these measures could then be used in other network, multi-center therapeutic trials.
This prospective study of bone disease in MRS I, II, and VI will characterize bone changes using modern methods and study the effects of growth hormone. This study will begin with Minnesota and Utah and then extend to the network with the long term goal of developing measures of bone health for therapeutic 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|
Showing the most recent 10 out of 34 publications