Osteopetrosis
Conditions
Keywords
low density lipoprotein receptor 5, high bone mass, autosomal dominant osteopetrosis type I, bone turnover markers
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.
Interventions
None listed
Sponsors
Odense University Hospital
Study design
Observational model
CASE_CONTROL
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
8 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
* Lrp5 mutation/ADOI
Exclusion criteria
* Pregnancy
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| Changes in bone turnover markers | 12 weeks | Markers of bone resorption and formation are investigated. |
| Bone mineral density | 12 weeks | DXA is used to evaluate bone mineral density at total hip, spine, whole body and forearm. |
Countries
Denmark
Outcome results
None listed