OsteoarthritisExorhumNCT01999166
Phenotype/Genotype Correlation in a Family With Early Onset Osteoarthritis
An observational study of Osteoarthritis, run by University Hospital, Caen at 1 site in France.
Trial summary
This study will investigate the genes responsible for osteoarthritis. Individuals with osteoarthritis known or suspected to be caused by a gene mutation (change) may be eligible for this study. Family members may also participate. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Osteoarthritis
- What is being tested?
- radiography (X-ray) and DNA sampling
- Type of treatment
- Surgery or procedure
- How many people
- 5 participants
- Where
- 1 siteFrance
- Study dates
- 7 Oct 2014to 31 Dec 2022
- 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 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Family With Early Onset Osteoarthritis
Who may be able to join
- Individuals (and family members) with early onset osteoarthritis according to the following definition:
- symptomatic OA before 50 years old
- no obvious causes of OA (IMC > 30, dysplasia,joint traumas)
- at least three OA locations
Who cannot join
- Individuals younger than 18 years old.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Phenotype/Genotype Correlation in a Family With Early Onset Osteoarthritis: Contribution of Genetic in the Diagnosis and Early Management of Patients.
This study will investigate the genes responsible for osteoarthritis. Individuals with osteoarthritis known or suspected to be caused by a gene mutation (change) may be eligible for this study. Family members may also participate.
Patients will talk with investigators who will explain the study and its possible implications for the patient and family and answer questions. The patient's medical records will be reviewed, a personal and family history will be taken, and a physical examination will be done. Two procedures may be done including blood sampling (which will be used for DNA (genetic) studies) and X-rays (to define osteoarthritis grade).
If no known mutations responsible for osteoarthritis will be detected, participating family members will be interviewed by telephone about their personal and family health history and will have a blood sample drawn for DNA testing, and X-rays.
Read the detailed description
We will investigate the clinical manifestations and molecular genetic defects of human osteoarthritis. Families with osteoarthritis of known or suspected genetic basis will be enrolled. Individuals will undergo clinical assessment and genetic analyses for the purpose of: 1) definition and characterization of phenotype, 2) determination of the natural history of the disorder, and 3) genotype/phenotype correlation. Genetic linkage studies may be performed for disorders in which the genetic bases is not yet known.
- Conditions
- Osteoarthritis
- Being tested
- radiography (X-ray), DNA sampling
- Medical subject headings
- Osteoarthritis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
radiography (X-ray)Radiation
DNA samplingGenetic
| Study group | Role | What they receive |
|---|---|---|
| Osteoarthritis | Not described Receives: Radiation: radiography (X-ray); Genetic: DNA sampling |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification of new gene mutations associated with early onset of osteoarthritis using NGS (Next Generation Sequencing)
Clinical, genetic and imaging factors of osteoarthritis
Measured: time of inclusion = Day 0
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Dec 2013 (estimated)
- Study start7 Oct 2014
- Primary completion31 Dec 2021
- Study completion31 Dec 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for OsteoarthritisStudies of the same condition, open and under way.
- More trials run by University Hospital, CaenThe 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
- Family based
- Time perspective
- Cross-sectional
- Enrolment
- 5 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Caen
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Christian MARCELLI, Principal investigator, University Hospital, Caen
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01999166
- Sponsor's protocol ID
- 2013-A00211-4
- Acronym
- Exorhum
- Status last verified
- Jul 2025
- First submitted
- 14 Nov 2013
- Last updated
- 30 Jul 2025
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 30 Jul 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Phenotype/Genotype Correlation in a Family With Early Onset Osteoarthritis: Contribution of Genetic in the Diagnosis and Early Management of Patients.
- ClinicalTrials.gov ID
- NCT01999166
- Acronym / sponsor ID
- Exorhum / 2013-A00211-4
- Conditions
- Osteoarthritis
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 5 participants (estimated)
- Lead sponsor
- University Hospital, CaenUniversity, hospital or other
- Study start
- 7 Oct 2014 (actual)
- Primary completion
- 31 Dec 2021 (actual)
- Study completion
- 31 Dec 2022 (actual)
- First posted
- 3 Dec 2013 (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.
This study will investigate the genes responsible for osteoarthritis. Individuals with osteoarthritis known or suspected to be caused by a gene mutation (change) may be eligible for this study. Family members may also participate.
Patients will talk with investigators who will explain the study and its possible implications for the patient and family and answer questions. The patient's medical records will be reviewed, a personal and family history will be taken, and a physical examination will be done. Two procedures may be done including blood sampling (which will be used for DNA (genetic) studies) and X-rays (to define osteoarthritis grade).
If no known mutations responsible for osteoarthritis will be detected, participating family members will be interviewed by telephone about their personal and family health history and will have a blood sample drawn for DNA testing, and X-rays.
Detailed description
We will investigate the clinical manifestations and molecular genetic defects of human osteoarthritis. Families with osteoarthritis of known or suspected genetic basis will be enrolled. Individuals will undergo clinical assessment and genetic analyses for the purpose of: 1) definition and characterization of phenotype, 2) determination of the natural history of the disorder, and 3) genotype/phenotype correlation. Genetic linkage studies may be performed for disorders in which the genetic bases is not yet known.
Study design
- Observational model
- Family based
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Osteoarthritis | – | Radiation: radiography (X-ray), Genetic: DNA sampling |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Family With Early Onset Osteoarthritis
Key inclusion criteria (4 listed)
- Individuals (and family members) with early onset osteoarthritis according to the following definition:
Key exclusion criteria (1 listed)
- Individuals younger than 18 years old.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| radiography (X-ray) | Radiation | Osteoarthritis |
| DNA sampling | Genetic | Osteoarthritis |
Primary outcome
Identification of new gene mutations associated with early onset of osteoarthritis using NGS (Next Generation Sequencing)
Time frame: time of inclusion = Day 0
Clinical, genetic and imaging factors of osteoarthritis
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 30 Jul 2025.
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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.
Christian MARCELLI principal investigator
University Hospital, Caen
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 Osteoarthritis, run by University Hospital, Caen at 1 site in France.
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 4 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 30 Jul 2025. 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 France. 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?
Identification of new gene mutations associated with early onset of osteoarthritis using NGS (Next Generation Sequencing) (time frame: time of inclusion = Day 0). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 30 Jul 2025.