Clinical Trial: Research for Genetic Factors Involved in Congenital Dislocation of Hip: Genome-wide Association Study in Grand West France

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Research for Genetic Factors Involved in Congenital Dislocation of Hip: Genome-wide Association Study in Grand West France

Brief Summary:

The main objective is to identify the genes involved in congenital dislocation of the hip.

The secondary objectives are to measure the association between mechanical risk factors and congenital dislocation of hip and study the interactions between these factors and genetic factors.


Detailed Summary:

Congenital hip dislocation (CHD) is one of the most frequent skeleton abnormalities in the Caucasian population (incidence: 2-10 / 1000). This disease results from an abnormality of the reports of the femoral head with the acetabulum, generated by a morphological defect of the cavity and / or joint hypermobility.

This condition is now defined as a multifactorial disease involving in the one hand, mechanical factors related to the conditions of pregnancy and childbirth, and secondly, genetic factors suggested by ethnic predisposition and familial aggregation observed. Despite the neonatal screening, CHD remains a public health problem because of its high frequency, because of the functional handicap which it leads in case of late diagnosis and of its natural evolution to coxarthrosis.

CHD was the object of a significant number of publications on the difficult aspects of its screening and treatment but, at the moment, few data are available on the genetic factors involved.

The genetic studies led on the CHD based on studies of case-control associations, focused on candidate genes, and genetic linkage analysis, two strategies classically used in genetic epidemiology.

To date, these strategies did not allow to elucidate the genetic determinism of the pathology.

The considerable progress made in recent years both in the field of knowledge of the human genome and its variability, in the development of methodological and technological tools allow to better understand the genetic determinism of complex diseases such as CHD.

The development of the techniques of broadband sequencing, new generation said sequencing (NGS for Next Generati
Sponsor: University Hospital, Brest

Current Primary Outcome: Research for one or several genes involved in the congenital dislocation of hip by comparing the DNA from blood or saliva of patients and controls. [ Time Frame: inclusion ]

The primary endpoint of the study is to sequence exome of patients affected by congenital dislocation of hip and of controls to identify one or several genes involved in the congenital dislocation of hip and compare the distribution of variants identified by exome sequencing between patients and controls.


Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: University Hospital, Brest

Dates:
Date Received: August 26, 2016
Date Started: November 2012
Date Completion: March 2018
Last Updated: September 9, 2016
Last Verified: September 2016