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Clinical Investigation and Molecular Forms of Family Disease of Varicose

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ClinicalTrials.gov Identifier: NCT02870127
Recruitment Status : Completed
First Posted : August 17, 2016
Last Update Posted : April 24, 2019
Sponsor:
Collaborator:
Direction Générale de l'Offre de Soins
Information provided by (Responsible Party):
Nantes University Hospital

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.

Condition or disease Intervention/treatment
Varicose Veins Other: blood sample

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Study Type : Observational
Actual Enrollment : 430 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Genetic Study of Varicose Disease by Sequencing Exome
Actual Study Start Date : June 1, 2013
Actual Primary Completion Date : December 19, 2016
Actual Study Completion Date : December 19, 2016

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Varicose Veins




Primary Outcome Measures :
  1. genetic abnormalities segregating with the presence of varicose veins in the informative families recruited. [ Time Frame: year 4 ]

Secondary Outcome Measures :
  1. genotype/phenotype relationship [ Time Frame: year 4 ]
    improving knowledge of the genotype / phenotype based on genes identified in different families.


Biospecimen Retention:   Samples With DNA
blood samples and venous tissues of patients


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Ages Eligible for Study:   25 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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 ).
Criteria

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02870127


Locations
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France
La Roche sur Yon Hospital
La Roche sur Yon, France, 85000
Nantes Univesrity Hospital
Nantes, France, 44093
Sponsors and Collaborators
Nantes University Hospital
Direction Générale de l'Offre de Soins
Investigators
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Principal Investigator: Marc-Antoine Pistorius, PU-PH Nantes University Hospital

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Responsible Party: Nantes University Hospital
ClinicalTrials.gov Identifier: NCT02870127     History of Changes
Other Study ID Numbers: RC12_0142
First Posted: August 17, 2016    Key Record Dates
Last Update Posted: April 24, 2019
Last Verified: April 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

Additional relevant MeSH terms:
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Varicose Veins
Vascular Diseases
Cardiovascular Diseases