Longitudinal Study of Bone Disease and the Impact of Growth Hormone Treatment

这项拟议的研究是一项多机构的、为期5年的纵向研究，对患有MRS I、II和VI的儿童进行骨病研究。总体目标是通过测量骨结构、密度、强度、新陈代谢和活动度来确定MRS I、II和VI的骨病特征。这将使用DUAL技术来完成 能量X射线吸收法(DXA)、外周血定量计算机断层扫描(PQCT)和血清骨代谢标志物。其具体目标是：1)描述骨健康和骨结构、密度、强度和流动性，并使用DXA、外周定量计算机断层扫描(PQCT)、骨转换的生物标记物和 机动性。2)在人群的一个子集(身高和身高-2SD)中，我们的目标是评估人类生长激素(HGH)在提高生长速度方面的有效性，以及在两个研究年中对骨骼健康和建筑学、流动性和神经认知结果的影响。3)标准化DXA、pQCT和 明尼苏达大学和犹他大学之间的机动性，这样这些措施就可以用于其他网络的多中心治疗试验。

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.