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

Odense University Hospital

Status: Completed

Conditions: Osteopetrosis

Study type: Observational

Funder types: Other

Identifiers

NCT01199094

LRP5-HBM

Details and patient eligibility

About

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

Full 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.

Enrollment: 38 patients

Sex: All

Ages: 8+ years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• Lrp5 mutation/ADOI

Exclusion criteria

• Pregnancy

Trial design

38 participants in 1 patient group

Patients with mutation in the Lrp5 gene

Description:

Patients known to have a mutation in Lrp5 known to be causing a high bone mass phenotype