Phenotype/Genotype Correlation in a Family With Early Onset Osteoarthritis

NCT ID: NCT01999166

Last Updated: 2025-07-30

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

5 participants

Study Classification

OBSERVATIONAL

Study Start Date

2014-10-07

Study Completion Date

2022-12-31

Brief Summary

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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

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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

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Osteoarthritis

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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Osteoarthritis

radiography (X-ray)

Intervention Type RADIATION

DNA sampling

Intervention Type GENETIC

Interventions

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radiography (X-ray)

Intervention Type RADIATION

DNA sampling

Intervention Type GENETIC

Eligibility Criteria

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Inclusion Criteria

* 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

Exclusion Criteria

* Individuals younger than 18 years old.
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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University Hospital, Caen

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Christian MARCELLI

Role: PRINCIPAL_INVESTIGATOR

University Hospital, Caen

Locations

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CHU

Caen, France, France

Site Status

Countries

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France

Other Identifiers

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2013-A00211-4

Identifier Type: -

Identifier Source: org_study_id

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