Osteopetrosis Clinical Trial
Official title:
Clinical Assessment of Patients With High Bone Mass Due to Mutation in Low Density Lipoprotein l Receptor 5
The aim of the study is to describe patients with a high bone mass phenotype due to a mutation in the low density lipoprotein l receptor 5 gene (LRP5) and compare them with age and sex matched controls. Moreover, bone density and microarchitecture as well as markers of bone metabolism are evaluated
Cases and controls are closely matched on age and sex and evaluated cross-sectionally.
Dual x-ray absorptiometry (DXA) and high resolution peripheral quantitative computed
tomography (HR-pQCT) are used in order to evaluate bone density as well as
microarchitecture. Bone turnover markers and body composition are also measured.
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Observational Model: Case Control, Time Perspective: Cross-Sectional
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