NCT01199094

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

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
38

participants targeted

Target at P25-P50 for all trials

Timeline
Completed

Started Jan 2009

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

January 1, 2009

Completed
1.2 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

April 1, 2010

Completed
2 months until next milestone

Study Completion

Last participant's last visit for all outcomes

June 1, 2010

Completed
3 months until next milestone

First Submitted

Initial submission to the registry

September 9, 2010

Completed
1 day until next milestone

First Posted

Study publicly available on registry

September 10, 2010

Completed
Last Updated

September 10, 2010

Status Verified

August 1, 2010

Enrollment Period

1.2 years

First QC Date

September 9, 2010

Last Update Submit

September 9, 2010

Conditions

Osteopetrosis

Keywords

low density lipoprotein receptor 5high bone massautosomal dominant osteopetrosis type Ibone turnover markers

Outcome Measures

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

    12 weeks

Secondary Outcomes (2)

  • Changes in bone turnover markers

    12 weeks

  • Bone mineral density

    12 weeks

Study Arms (1)

Patients with mutation in the Lrp5 gene

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

Eligibility Criteria

Age8 Years+
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Case-control study on almost 40 individuals

You may qualify if:

  • Lrp5 mutation/ADOI

You may not qualify if:

  • Pregnancy

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Odense University Hospital, Osteoporosis Clinic

Odense, 5000, Denmark

Location

Related Publications (1)

  • 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.

    PMID: 20200960RESULT

Biospecimen

Retention: SAMPLES WITH DNA

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

MeSH Terms

Conditions

OsteopetrosisOsteopetrosis autosomal dominant type 1

Condition Hierarchy (Ancestors)

OsteosclerosisOsteochondrodysplasiasBone Diseases, DevelopmentalBone DiseasesMusculoskeletal Diseases

Study Officials

  • Kim Brixen, Professor

    Odense University Hospital

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
CROSS SECTIONAL
Sponsor Type
OTHER

Study Record Dates

First Submitted

September 9, 2010

First Posted

September 10, 2010

Study Start

January 1, 2009

Primary Completion

April 1, 2010

Study Completion

June 1, 2010

Last Updated

September 10, 2010

Record last verified: 2010-08

Locations

DK(1)