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

Osteopetrosis Clinical Trial

Official title:

Clinical Assessment of Patients With High Bone Mass Due to Mutation in Low Density Lipoprotein l Receptor 5

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01199094
• Other study ID #: LRP5-HBM
• Status: Completed
• Phase: N/A
• First received: September 9, 2010
• Last updated: September 9, 2010
• Start date: January 2009
• Est. completion date: June 2010

Study information

• Verified date: August 2010
• Source: Odense University Hospital
• Contact: n/a
• Is FDA regulated: No
• Health authority: Denmark: Danish Dataprotection Agency
• Study type: Observational

Clinical Trial 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

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 38
• Est. completion date: June 2010
• Est. primary completion date: April 2010
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Both
• Age group: 8 Years and older

Eligibility

Inclusion Criteria:

• Lrp5 mutation/ADOI

Exclusion Criteria:

• Pregnancy

Study Design

Observational Model: Case Control, Time Perspective: Cross-Sectional

Related Conditions & MeSH terms

• Osteopetrosis

Locations

Country	Name	City	State
Denmark	Odense University Hospital, Osteoporosis Clinic	Odense

Sponsors (1)

Lead Sponsor	Collaborator
Odense University Hospital

Country where clinical trial is conducted

Denmark, 

References & 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. Erratum in: J Bone Miner — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	No
Secondary	Changes in bone turnover markers	Markers of bone resorption and formation are investigated.	12 weeks	No
Secondary	Bone mineral density	DXA is used to evaluate bone mineral density at total hip, spine, whole body and forearm.	12 weeks	No