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

拟定研究是一项针对MRS I、II和VI儿童骨骼疾病的多机构、5年、纵向研究。总体目标是通过测量骨结构、密度、强度、代谢和活动性来表征MRS I、II和VI中的骨病。这将使用双重技术来完成 能量X射线吸收测定法（DXA）、外周定量计算机断层扫描（pQCT）和骨代谢的血清标志物。具体目标是：1）表征骨健康和骨结构、密度、强度和移动性，并使用DXA、外周定量计算机断层扫描（pQCT）、骨转换的生物标志物和骨代谢测试来记录骨疾病的自然进展。 迁移率2)在人群的一个子集（身高< -2 SDS）中，我们旨在评估人类生长激素（hGH）在2年研究期间增加生长速度的疗效以及对骨骼健康和结构、活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州大学之间的流动性，使这些措施可以用于其他网络，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.