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

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ClinicalTrials.gov Identifier: NCT01199094
Recruitment Status : Completed
First Posted : September 10, 2010
Last Update Posted : September 10, 2010
Sponsor:
Information provided by:

Study Description
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
Osteopetrosis

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.


Study Design

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
Primary Completion Date : April 2010
Study Completion Date : June 2010

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Bone Density
U.S. FDA Resources

Groups and Cohorts

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


Outcome Measures

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

Eligibility Criteria

Information from the National Library of Medicine

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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
Criteria

Inclusion Criteria:

  • Lrp5 mutation/ADOI

Exclusion Criteria:

  • Pregnancy
Contacts and Locations

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 ClinicalTrials.gov identifier (NCT number): NCT01199094


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

Publications:
Responsible Party: Kim Brixen, Professor, consultant, Odense University Hospital
ClinicalTrials.gov Identifier: NCT01199094     History of Changes
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:
Osteopetrosis
Osteosclerosis
Osteochondrodysplasias
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases