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
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Condition or disease |
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Osteopetrosis |
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 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 |

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

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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 |
Inclusion Criteria:
- Lrp5 mutation/ADOI
Exclusion Criteria:
- Pregnancy

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
Denmark | |
Odense University Hospital, Osteoporosis Clinic | |
Odense, Denmark, 5000 |
Principal Investigator: | Kim Brixen, Professor | Odense University Hospital |
Responsible Party: | Kim Brixen, Professor, consultant, Odense University Hospital |
ClinicalTrials.gov 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 |
low density lipoprotein receptor 5 high bone mass autosomal dominant osteopetrosis type I bone turnover markers |
Osteopetrosis Osteosclerosis Osteochondrodysplasias |
Bone Diseases, Developmental Bone Diseases Musculoskeletal Diseases |