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CompletedNCT01199094Updated Sep 10, 2010

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

An observational study in Osteopetrosis, sponsored by Odense University Hospital. Completed at 1 site in Denmark. Open to participants aged 8 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2010-09-10.

Sponsored by Odense University Hospital · Observational

Study type
Observational
Model
Case-control
Time perspective
Cross-sectional
Enrollment
38
Ages
8 Years and older
Sex
All
01

Study 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

Read the 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.

02

Conditions studied

  • Osteopetrosis

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Keywords

  • low density lipoprotein receptor 5
  • high bone mass
  • autosomal dominant osteopetrosis type I
  • bone turnover markers
03

In context

Osteopetrosis

22 studies on the registry are indexed under Osteopetrosis; 4 are open to participants now.

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Lead sponsor

Odense University Hospital is the lead sponsor of 479 studies on the registry; 110 are open to participants now.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
8 Years and older
Sexes eligible
All
Accepts healthy volunteers
Yes
Sampling method
Non-probability sample

Study population

Case-control study on almost 40 individuals

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

Inclusion criteria

  • Lrp5 mutation/ADOI

Exclusion criteria

Exclusion Criteria:

  • Pregnancy
05

Study design

Observational model
Case-control
Time perspective
Cross-sectional
Enrollment
38 participants (actual)
Biospecimen retention
Samples with dna

Groups and cohorts

  • Patients with mutation in the Lrp5 gene

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

06

What researchers measure

Primary outcomes

  1. Bone microarchitecture as assessed by high resolution quantitative computed tomography (HR-pQCT)

    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

    Time frame: 12 weeks

Secondary outcomes

  1. Changes in bone turnover markers

    Markers of bone resorption and formation are investigated.

    Time frame: 12 weeks

  2. Bone mineral density

    DXA is used to evaluate bone mineral density at total hip, spine, whole body and forearm.

    Time frame: 12 weeks

07

Study locations

1 site
  • Odense University Hospital, Osteoporosis Clinic
    Odense, 5000, Denmark
08

References and documents

Publications

  • Frost M, Andersen TE, Yadav V, Brixen K, Karsenty G, Kassem M. Patients with high-bone-mass phenotype owing to Lrp5-T253I mutation have low plasma levels of serotonin. J Bone Miner Res. 2010 Mar;25(3):673-5. doi: 10.1002/jbmr.44. Erratum In: J Bone Miner Res. 2010 Aug;25(8):1896. PubMed 20200960 ↗
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Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Sep 10, 2010, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT01199094
First posted
Sep 10, 2010
Start date
Jan 2009
Primary completion
Apr 2010
Completion
Jun 2010
Last update
Sep 10, 2010

Study contacts

Kim Brixen, Professor
principal investigator · Odense University Hospital

Oversight

Data monitoring committee
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Aug 2010. You cannot join it, but the record below documents what was studied.

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