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

该研究是一项多机构、5年、纵向研究，研究MRS I儿童骨骼疾病， II和VI。总体目标是通过测量骨骼，在MRS I、II和VI中表征骨骼疾病。 结构、密度、强度、新陈代谢和移动性。这将使用双重技术来完成 能量X线吸收测定法（DXA）、外周定量计算机断层扫描（pQCT）和血清 骨代谢的标志物。具体目的是：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）、骨转换生物标志物和骨代谢试验。 迁移率2)在人群的一个子集（身高< -2 SDS）中，我们的目标是评估人类生长的功效 激素（hGH）对增加生长速度的影响，以及对骨骼健康和结构，流动性和 2年研究期间的神经认知结果。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 然后用于其他网络、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.