Clinical Trial: Clinical Assessment of Patients With High Bone Mass Due to Mutation in Lrp5

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: Clinical Assessment of Patients With High Bone Mass Due to Mutation in Low Density Lipoprotein l Receptor 5

Brief Summary: 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

Detailed Summary:

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.


Sponsor: Odense University Hospital

Current Primary Outcome: Bone microarchitecture as assessed by high resolution quantitative computed tomography (HR-pQCT) [ Time Frame: 12 weeks ]

HR-pQCT is used to evaluate bone microarchitecture, i.e. bone trabeculae, cortical thickness and trabecular number. Aim is to test if the microarchitecture of these patients are different that observed in normal controls


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • Changes in bone turnover markers [ Time Frame: 12 weeks ]
    Markers of bone resorption and formation are investigated.
  • Bone mineral density [ Time Frame: 12 weeks ]
    DXA is used to evaluate bone mineral density at total hip, spine, whole body and forearm.


Original Secondary Outcome: Same as current

Information By: Odense University Hospital

Dates:
Date Received: September 9, 2010
Date Started: January 2009
Date Completion:
Last Updated: September 9, 2010
Last Verified: August 2010