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

NCT ID: NCT01199094

Last Updated: 2010-09-10

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

38 participants

Study Classification

OBSERVATIONAL

Study Start Date

2009-01-31

Study Completion Date

2010-06-30

Brief Summary

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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

Detailed Description

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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.

Conditions

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Osteopetrosis

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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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

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

* Lrp5 mutation/ADOI

Exclusion Criteria

* Pregnancy
Minimum Eligible Age

8 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Odense University Hospital

OTHER

Sponsor Role lead

Responsible Party

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Odense University Hospital

Principal Investigators

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Kim Brixen, Professor

Role: PRINCIPAL_INVESTIGATOR

Odense University Hospital

Locations

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Odense University Hospital, Osteoporosis Clinic

Odense, , Denmark

Site Status

Countries

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Denmark

References

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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.

Reference Type RESULT
PMID: 20200960 (View on PubMed)

Other Identifiers

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LRP5-HBM

Identifier Type: -

Identifier Source: org_study_id