Phenotype/Genotype Correlation in a Family With Early Onset Osteoarthritis

• Conditions: Osteoarthritis
• Interventions: Radiation: radiography (X-ray); Genetic: DNA sampling

• Registration Number: NCT01999166
• Lead Sponsor: University Hospital, Caen

Brief 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.

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 Timeline

• Study First Submitted: 2013-11-14
• Study First Submitted QC: 2013-11-26
• Study Start: 2013-12
• Study First Posted: 2013-12-03
• Status Verified: 2015-01
• Last Update Submitted: 2015-01-09
• Last Update Posted: 2015-01-12
• Primary Completion: 2018-12
• Study Completion: 2018-12

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 5

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Osteoarthritis	DNA sampling	-
Osteoarthritis	radiography (X-ray)	-

Primary Outcome Measures

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

Trial Locations

Locations (1)

CHU; 🇫🇷 Caen, France