Phenotype/Genotype Correlation in a Family With Early Onset Osteoarthritis

Osteoarthritis Clinical Trial

— Exorhum  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT01999166
• Other study ID #: 2013-A00211-4
• Status: Recruiting
• Phase: N/A
• First received: November 14, 2013
• Last updated: January 9, 2015
• Start date: December 2013
• Est. completion date: December 2018

Study information

• Verified date: January 2015
• Source: University Hospital, Caen
• Contact: n/a
• Is FDA regulated: No
• Health authority: France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis)
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 5
• Est. completion date: December 2018
• Est. primary completion date: December 2018
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 18 Years and older

Eligibility

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

Observational Model: Family-Based, Time Perspective: Cross-Sectional

Related Conditions & MeSH terms

• Osteoarthritis

Intervention

Radiation:
• radiography (X-ray)

Genetic:
• DNA sampling

Locations

Country	Name	City	State
France	CHU	Caen

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Caen

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	No