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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01199094
Recruitment Status : Completed
First Posted : September 10, 2010
Last Update Posted : September 10, 2010
Information provided by:
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

Condition or disease

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.

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Study Type : Observational
Actual Enrollment : 38 participants
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
Study Start Date : January 2009
Actual Primary Completion Date : April 2010
Actual Study Completion Date : June 2010

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Bone Density

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

Primary Outcome Measures :
  1. 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 :
  1. Changes in bone turnover markers [ Time Frame: 12 weeks ]
    Markers of bone resorption and formation are investigated.

  2. 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

Information from the National Library of Medicine

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Ages Eligible for Study:   8 Years and older   (Child, Adult, Older Adult)
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01199094

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Odense University Hospital, Osteoporosis Clinic
Odense, Denmark, 5000
Sponsors and Collaborators
Odense University Hospital
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Principal Investigator: Kim Brixen, Professor Odense University Hospital
Publications of Results:
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Responsible Party: Kim Brixen, Professor, consultant, Odense University Hospital Identifier: NCT01199094    
Other Study ID Numbers: LRP5-HBM
First Posted: September 10, 2010    Key Record Dates
Last Update Posted: September 10, 2010
Last Verified: August 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:
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Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases