Clinical Assessment of Patients With High Bone Mass Due to Mutation in Lrp5 - Full Text View

Purpose

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

Condition
Osteopetrosis


Study Type:	Observational
Study Design:	Observational Model: Case Control Time Perspective: Cross-Sectional
Official Title:	Clinical Assessment of Patients With High Bone Mass Due to Mutation in Low Density Lipoprotein l Receptor 5

Resource links provided by NLM:

Genetics Home Reference related topics: mucopolysaccharidosis type IV osteopetrosis

MedlinePlus related topics: Bone Density

Genetic and Rare Diseases Information Center resources: Osteopetrosis

U.S. FDA Resources

Further study details as provided by Odense University Hospital:

Primary Outcome Measures:

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

Secondary Outcome Measures:

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.

Biospecimen Retention: Samples With DNA

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


Enrollment:	38
Study Start Date:	January 2009
Study Completion Date:	June 2010
Primary Completion Date:	April 2010 (Final data collection date for primary outcome measure)

Groups/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

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.

Eligibility


Ages Eligible for Study:	8 Years and older
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	Yes
Sampling Method:	Non-Probability Sample

Study Population

Case-control study on almost 40 individuals

Criteria

Inclusion Criteria:

Lrp5 mutation/ADOI

Exclusion Criteria:

Pregnancy

Contacts and Locations

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01199094

Locations


Denmark
Odense University Hospital, Osteoporosis Clinic
Odense, Denmark, 5000

Sponsors and Collaborators

Odense University Hospital

Investigators


Principal Investigator:	Kim Brixen, Professor	Odense University Hospital

More Information

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.


Responsible Party:	Kim Brixen, Professor, consultant, Odense University Hospital
ClinicalTrials.gov Identifier:	NCT01199094 History of Changes
Other Study ID Numbers:	LRP5-HBM
Study First Received:	September 9, 2010
Last Updated:	September 9, 2010
Health Authority:	Denmark: Danish Dataprotection Agency

Keywords provided by Odense University Hospital:


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

Additional relevant MeSH terms:


Osteopetrosis Bone Diseases Bone Diseases, Developmental	Musculoskeletal Diseases Osteochondrodysplasias Osteosclerosis

ClinicalTrials.gov processed this record on February 27, 2015