Phenotype/Genotype Correlation in a Family With Early Onset Osteoarthritis

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.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Osteoarthritis Arthritis Joint Diseases Musculoskeletal Diseases Rheumatic Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

CHU

Caen, France, 14000

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

radiography (X-ray)

Radiation

DNA sampling

Genetic

Primary outcomes

Identification of new gene mutations associated with early onset of osteoarthritis using NGS (Next Generation Sequencing)

Time frame: time of inclusion = Day 0

Clinical, genetic and imaging factors of osteoarthritis

Sponsors and collaborators

Lead sponsor

University Hospital, Caen

Other

Registry information

Official study title

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

Acronym: Exorhum

Important dates

Study start: 2014
Primary completion: 2021
Study completion: 2022
First posted: Dec 3, 2013
Registry last updated: Jul 30, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed