Clinical Investigation and Molecular Forms of Family Disease of Varicose

NCT02870127 | Completed

• 1 other identifier: RC12_0142
• Study Type: observational
• Target: 430
• Locations: 1 country
• Sites: 2

Brief 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.

Conditions

Varicose Veins

Outcome Measures

Primary Outcomes (1)

• genetic abnormalities segregating with the presence of varicose veins in the informative families recruited.

  year 4

Secondary Outcomes (1)

• genotype/phenotype relationship

  year 4

Interventions

blood sample OTHER

Eligibility Criteria

• Age: 25 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The initial step of this protocol relies on recruiting large families (\> 8 met) for a genetic linkage analysis. It consists firstly in identifying patients with varicose veins occurring in a family context, and to conduct a comprehensive survey to assess the potentially informative family (significant number of individuals with multiple generations) and ensure their membership prior to the study. The next step is the fine and accurate phenotyping of each of the family members and the collection of a blood sample for DNA extraction for molecular genetic analysis (family linkage analysis and sequencing exome ).

You may qualify if:

• 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• Nantes University Hospital: lead
• Direction Générale de l'Offre de Soins: collaborator

Study Sites (2)

La Roche sur Yon Hospital

La Roche-sur-Yon, 85000, France

Location

Nantes Univesrity Hospital

Nantes, 44093, France

Location

Biospecimen

Retention: SAMPLES WITH DNA

blood samples and venous tissues of patients

MeSH Terms

Conditions

Varicose Veins

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Vascular Diseases; Cardiovascular Diseases

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Marc-Antoine Pistorius, PU-PH

  Nantes University Hospital

  PRINCIPAL INVESTIGATOR

Study Design

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

Study Record Dates

• First Submitted: August 12, 2016
• First Posted: August 17, 2016
• Study Start: June 1, 2013
• Primary Completion: December 19, 2016
• Study Completion: December 19, 2016
• Last Updated: April 24, 2019

Record last verified: 2019-04

Locations

FR (2)