NCT01999166

Phenotype/Genotype Correlation in a Family With Early Onset Osteoarthritis

Phenotype/Genotype Correlation in a Family With Early Onset Osteoarthritis: Contribution of Genetic in the Diagnosis and Early Management of Patients.

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 5 (estimated)
• Sponsor: University Hospital, Caen · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Osteoarthritis

Interventions

Type	Name	Description
RADIATION	radiography (X-ray)
GENETIC	DNA sampling

Timeline

• Start date: 2014-10-07
• Primary completion: 2021-12-31
• Completion: 2022-12-31
• First posted: 2013-12-03
• Last updated: 2025-07-30

Locations

1 site across 1 country: France