Phenotype/Genotype Correlation in a Family With Early Onset Osteoarthritis

NCT01999166 | Completed

• 1 other identifier: 2013-A00211-4
• Study Type: observational
• Target: 5
• Locations: 1 country
• Sites: 1

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.

Conditions

Osteoarthritis

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (1)

Osteoarthritis

Radiation: radiography (X-ray); Genetic: DNA sampling

Interventions

radiography (X-ray) RADIATION

Osteoarthritis

DNA sampling GENETIC

Osteoarthritis

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Family With Early Onset Osteoarthritis

You may qualify if:

• 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

You may not qualify if:

• Individuals younger than 18 years old.

Sponsors & Collaborators

• University Hospital, Caen: lead

Study Sites (1)

CHU

Caen, France, 14000, France

Location

MeSH Terms

Conditions

Osteoarthritis

Interventions

X-Rays

Condition Hierarchy (Ancestors)

Arthritis; Joint Diseases; Musculoskeletal Diseases; Rheumatic Diseases

Intervention Hierarchy (Ancestors)

Electromagnetic Radiation; Electromagnetic Phenomena; Magnetic Phenomena; Physical Phenomena; Radiation; Radiation, Ionizing

Study Officials

• Christian MARCELLI

  University Hospital, Caen

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 14, 2013
• First Posted: December 3, 2013
• Study Start: October 7, 2014
• Primary Completion: December 31, 2021
• Study Completion: December 31, 2022
• Last Updated: July 30, 2025

Record last verified: 2025-07

Locations

FR (1)