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

This study has been completed.
Information provided by:
Odense University Hospital Identifier:
First received: September 9, 2010
Last updated: NA
Last verified: August 2010
History: No changes posted
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 Type: Observational
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

Resource links provided by NLM:

Further study details as provided by Odense University Hospital:

Primary Outcome Measures:
  • 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

Secondary Outcome Measures:
  • 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.

Biospecimen Retention:   Samples With DNA
Serum, plasma, DNA as well as fat and skin biopsies

Enrollment: 38
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

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.


Ages Eligible for Study:   8 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Case-control study on almost 40 individuals

Inclusion Criteria:

  • Lrp5 mutation/ADOI

Exclusion Criteria:

  • Pregnancy
  Contacts and Locations
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Please refer to this study by its identifier: NCT01199094

Odense University Hospital, Osteoporosis Clinic
Odense, Denmark, 5000
Sponsors and Collaborators
Odense University Hospital
Principal Investigator: Kim Brixen, Professor Odense University Hospital
  More Information

Responsible Party: Kim Brixen, Professor, consultant, Odense University Hospital Identifier: NCT01199094     History of Changes
Other Study ID Numbers: LRP5-HBM
Study First Received: September 9, 2010
Last Updated: September 9, 2010

Keywords provided by Odense University Hospital:
low density lipoprotein receptor 5
high bone mass
autosomal dominant osteopetrosis type I
bone turnover markers

Additional relevant MeSH terms:
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases processed this record on September 20, 2017