OsteopetrosisNCT01199094
Clinical Assessment of Patients With High Bone Mass Due to Mutation in Lrp5
An observational study of Osteopetrosis, run by Odense University Hospital at 1 site in Denmark.
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 Read more about this study
- Who is it for?
- Ages 8 years and olderHealthy volunteers can take part
- Conditions the study is for
- Osteopetrosis
- How many people
- 38 participants
- Where
- 1 siteDenmark
- Study dates
- Jan 2009to Jun 2010
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 8 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Case-control study on almost 40 individuals
Who may be able to join
- Lrp5 mutation/ADOI
Who cannot join
- Pregnancy
Trial locations and contacts
1 site in 1 country.
About this study
Official title: 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
Read the 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.
- Conditions
- Osteopetrosis
- Keywords
- low density lipoprotein receptor 5, high bone mass, autosomal dominant osteopetrosis type I, bone turnover markers
- Medical subject headings
- Osteopetrosis, Osteopetrosis autosomal dominant type 1
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Patients with mutation in the Lrp5 gene | Patients known to have a mutation in Lrp5 known to be causing a high bone mass phenotype |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 12 weeks
Secondary outcomes (2)
Changes in bone turnover markers
Markers of bone resorption and formation are investigated.
Measured: 12 weeks
Bone mineral density
DXA is used to evaluate bone mineral density at total hip, spine, whole body and forearm.
Measured: 12 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Sep 2010 (estimated)
- Study startJan 2009
- Primary completionApr 2010
- Study completionJun 2010
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for OsteopetrosisStudies of the same condition, open and under way.
- More trials run by Odense University HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 38 participants (actual)
Sponsor and investigators
- Lead sponsor
- Odense University Hospital
- Sponsor type
- University, hospital or other
- Investigators
- Kim Brixen, Professor, Principal investigator, Odense University Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01199094
- Sponsor's protocol ID
- LRP5-HBM
- Status last verified
- Aug 2010
- First submitted
- 9 Sep 2010
- Last updated
- 10 Sep 2010
- Results posted
- No
- Data monitoring committee
- No
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.
PubMed 20200960
Study at a glance
From the registry record, last updated by the sponsor on 10 Sep 2010. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical Assessment of Patients With High Bone Mass Due to Mutation in Low Density Lipoprotein l Receptor 5
- ClinicalTrials.gov ID
- NCT01199094
- Acronym / sponsor ID
- LRP5-HBM
- Conditions
- Osteopetrosis
- Keywords
- low density lipoprotein receptor 5, high bone mass, autosomal dominant osteopetrosis type I, bone turnover markers
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 38 participants (actual)
- Lead sponsor
- Odense University HospitalUniversity, hospital or other
- Study start
- Jan 2009
- Primary completion
- Apr 2010 (actual)
- Study completion
- Jun 2010 (actual)
- First posted
- 10 Sep 2010 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
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.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with mutation in the Lrp5 gene | – | –Patients known to have a mutation in Lrp5 known to be causing a high bone mass phenotype |
Who may qualify
- Ages
- 8 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Case-control study on almost 40 individuals
Key inclusion criteria (1 listed)
- Lrp5 mutation/ADOI
Key exclusion criteria (1 listed)
- Pregnancy
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Bone microarchitecture as assessed by high resolution quantitative computed tomography (HR-pQCT)
Time frame: 12 weeks
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
2 secondary outcomes
Changes in bone turnover markers
Time frame: 12 weeks
Bone mineral density
Time frame: 12 weeks
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Sep 2010.
- Results publication: PubMed 20200960Frost 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Kim Brixen, Professor principal investigator
Odense University Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Osteopetrosis, run by Odense University Hospital at 1 site in Denmark.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 10 Sep 2010. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Denmark. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Bone microarchitecture as assessed by high resolution quantitative computed tomography (HR-pQCT) (time frame: 12 weeks). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01199094, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 10 Sep 2010.