Clinical Assessment of Patients With High Bone Mass Due to Mutation in Lrp5
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
|Study Design:||Observational Model: Case Control
Time Perspective: Cross-Sectional
|Official Title:||Clinical Assessment of Patients With High Bone Mass Due to Mutation in Low Density Lipoprotein l Receptor 5|
- Bone microarchitecture as assessed by high resolution quantitative computed tomography (HR-pQCT) [ Time Frame: 12 weeks ] [ Designated as safety issue: No ]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
- Changes in bone turnover markers [ Time Frame: 12 weeks ] [ Designated as safety issue: No ]Markers of bone resorption and formation are investigated.
- Bone mineral density [ Time Frame: 12 weeks ] [ Designated as safety issue: No ]DXA is used to evaluate bone mineral density at total hip, spine, whole body and forearm.
Biospecimen Retention: Samples With DNA
Serum, plasma, DNA as well as fat and skin biopsies
|Study Start Date:||January 2009|
|Study Completion Date:||June 2010|
|Primary Completion Date:||April 2010 (Final data collection date for primary outcome measure)|
Patients with mutation in the Lrp5 gene
Patients known to have a mutation in Lrp5 known to be causing a high bone mass phenotype
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.
|Odense University Hospital, Osteoporosis Clinic|
|Odense, Denmark, 5000|
|Principal Investigator:||Kim Brixen, Professor||Odense University Hospital|