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Clinical Investigation and Molecular Forms of Family Disease of Varicose

NCT02870127 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 430

Last updated 2019-04-24

No results posted yet for this study

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

Interventions

OTHER

blood sample

Sponsors & Collaborators

  • Direction Générale de l'Offre de Soins

    collaborator OTHER_GOV

  • Nantes University Hospital

    lead OTHER

Principal Investigators

  • Marc-Antoine Pistorius, PU-PH · Nantes University Hospital

Eligibility

Min Age
25 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2013-06-01
Primary Completion
2016-12-19
Completion
2016-12-19

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02870127 on ClinicalTrials.gov