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

Completed
Conditions
Osteopetrosis
Registration Number
NCT01199094
Lead Sponsor
Odense University Hospital
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 Description

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.

Recruitment & Eligibility

Status
COMPLETED
Sex
All
Target Recruitment
38
Inclusion Criteria
  • Lrp5 mutation/ADOI
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Exclusion Criteria
  • Pregnancy
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Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Bone microarchitecture as assessed by high resolution quantitative computed tomography (HR-pQCT)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

Secondary Outcome Measures
NameTimeMethod
Changes in bone turnover markers12 weeks

Markers of bone resorption and formation are investigated.

Bone mineral density12 weeks

DXA is used to evaluate bone mineral density at total hip, spine, whole body and forearm.

Trial Locations

Locations (1)

Odense University Hospital, Osteoporosis Clinic

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Odense, Denmark

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