Clinical Investigation and Molecular Forms of Family Disease of Varicose

Varicose Veins Clinical Trial

Official title:

Genetic Study of Varicose Disease by Sequencing Exome

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02870127
• Other study ID #: RC12_0142
• Status: Completed
• Start date: June 1, 2013
• Est. completion date: December 19, 2016

Study information

• Verified date: April 2019
• Source: Nantes University Hospital
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

The existence of a family factor in the genesis of varicose veins is certain, but few studies have addressed reliably instead of the genetic factor in clinical and molecular level. The investigator initiated an original study to identify one or more genetic abnormalities predisposing to varicose disease, based on a combined approach of genetic linkage and of exome sequencing. The clinical research phase is an essential prerequisite to the identification of genetic mutations; it is to identify large affected families and ensure an extremely rigorous and accurate phenotyping of individuals over several generations. A first clinical work has identified and / or phenotype 8 families with a genetically informative family suggesting autosomal dominant inheritance. Linkage analysis suggested several candidate chromosomal regions without allowing the identification of a gene. This project aims to resume and expand the Family clinical investigations and apply the techniques of genome analysis points, including exome sequencing on the most informative families to identify the genes and mechanisms responsible of this disease and improve the prevention and the treatment of varicose veins.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 430
• Est. completion date: December 19, 2016
• Est. primary completion date: December 19, 2016
• Accepts healthy volunteers: No
• Gender: All
• Age group: 25 Years and older

Eligibility

Inclusion Criteria:

• Any patient consultant the Medicine Vascular Surgery for varicose veins of the lower limbs as part of a manifesto family context

• Varices Presence in at least one family member

• Written consent

Exclusion Criteria:

• Patients who are unable to sign or who refuse to sign an informed consent

• Subjects aged less than 25 years, due to the low penetrance of varicose disease that age.

• Secondary veins at a post-thrombotic disease (suspected by the examination and confirmed by Doppler ultrasonography of the deep venous system)

• Venous angiodysplasia or secondary varicose arteriovenous fistulas.

Related Conditions & MeSH terms

• Varicose Veins

Intervention

Other:
• blood sample

Locations

Country	Name	City	State
France	La Roche sur Yon Hospital	La Roche sur Yon
France	Nantes Univesrity Hospital	Nantes

Sponsors (2)

Lead Sponsor	Collaborator
Nantes University Hospital	Direction Générale de l'Offre de Soins

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	genetic abnormalities segregating with the presence of varicose veins in the informative families recruited.		year 4
Secondary	genotype/phenotype relationship	improving knowledge of the genotype / phenotype based on genes identified in different families.	year 4