Phenotype/Genotype Correlation in a Family With Early Onset Osteoarthritis (Exorhum)

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.

Study Overview

• Status: Completed
• Conditions: Osteoarthritis
• Intervention / Treatment: Radiation: radiography (X-ray); Genetic: DNA sampling

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 Type: Observational
• Enrollment (Estimated): 5

Contacts and Locations

Study Locations

• France
  • Caen, France, 14000
    • CHU

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Family With Early Onset Osteoarthritis

Description

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.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Osteoarthritis	Radiation: radiography (X-ray); Genetic: DNA sampling

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Identification of new gene mutations associated with early onset of osteoarthritis using NGS (Next Generation Sequencing)	Clinical, genetic and imaging factors of osteoarthritis	time of inclusion = Day 0

Collaborators and Investigators

• Sponsor: University Hospital, Caen
• Investigators: Principal Investigator: Christian MARCELLI, University Hospital, Caen

Study record dates

Study Major Dates

• Study Start (Actual): October 7, 2014
• Primary Completion (Actual): December 31, 2021
• Study Completion (Actual): December 31, 2022

Study Registration Dates

• First Submitted: November 14, 2013
• First Submitted That Met QC Criteria: November 26, 2013
• First Posted (Estimated): December 3, 2013

Study Record Updates

• Last Update Posted (Actual): July 30, 2025
• Last Update Submitted That Met QC Criteria: July 25, 2025
• Last Verified: July 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Musculoskeletal Diseases; Arthritis; Joint Diseases; Rheumatic Diseases; Osteoarthritis
• Other Study ID Numbers: 2013-A00211-4