Now Available for Public Comment: Notice of Proposed Rulemaking (NPRM) for FDAAA 801 and NIH Draft Reporting Policy for NIH-Funded Trials

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

This study has been completed.
Sponsor:
Information provided by:
Odense University Hospital
ClinicalTrials.gov Identifier:
NCT01199094
First received: September 9, 2010
Last updated: NA
Last verified: August 2010
History: No changes posted

September 9, 2010
September 9, 2010
January 2009
April 2010   (final data collection date for primary outcome measure)
Bone microarchitecture as assessed by high resolution quantitative computed tomography (HR-pQCT) [ Time Frame: 12 weeks ] [ Designated as safety issue: No ]
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
Same as current
No Changes Posted
  • Changes in bone turnover markers [ Time Frame: 12 weeks ] [ Designated as safety issue: No ]
    Markers of bone resorption and formation are investigated.
  • Bone mineral density [ Time Frame: 12 weeks ] [ Designated as safety issue: No ]
    DXA is used to evaluate bone mineral density at total hip, spine, whole body and forearm.
Same as current
Not Provided
Not Provided
 
Clinical Assessment of Patients With High Bone Mass Due to Mutation in Lrp5
Clinical Assessment of Patients With High Bone Mass Due to Mutation in Low Density Lipoprotein l Receptor 5

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

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.

Observational
Observational Model: Case Control
Time Perspective: Cross-Sectional
Not Provided
Retention:   Samples With DNA
Description:

Serum, plasma, DNA as well as fat and skin biopsies

Non-Probability Sample

Case-control study on almost 40 individuals

Osteopetrosis
Not Provided
Patients with mutation in the Lrp5 gene
Patients known to have a mutation in Lrp5 known to be causing a high bone mass phenotype
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.

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Completed
38
June 2010
April 2010   (final data collection date for primary outcome measure)

Inclusion Criteria:

  • Lrp5 mutation/ADOI

Exclusion Criteria:

  • Pregnancy
Both
8 Years and older
Yes
Contact information is only displayed when the study is recruiting subjects
Denmark
 
NCT01199094
LRP5-HBM
No
Kim Brixen, Professor, consultant, Odense University Hospital
Odense University Hospital
Not Provided
Principal Investigator: Kim Brixen, Professor Odense University Hospital
Odense University Hospital
August 2010

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP