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Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families

Sponsor
Imperial College London (Other)
Overall Status
Unknown status
CT.gov ID
NCT00230620
Collaborator
British Heart Foundation (Other)
250
Enrollment
1
Location
263
Duration (Months)
1
Patients Per Site Per Month

Study Details

Study Description

Brief Summary

Hereditary haemorrhagic telangiectasia is a disease inherited as an autosomal dominant disease. Analysing DNA from affected and unaffected family members allows us to identify the location of disease genes by linkage analysis. Sequencing genes in the interval identified by linkage analysis allows us to identify which precise gene is mutated. Further functional studies can then determine why the mutations in that gene cause the disease.

Condition or Disease Intervention/Treatment Phase

    Study Design

    Study Type:
    Observational
    Anticipated Enrollment :
    250 participants
    Observational Model:
    Family-Based
    Official Title:
    Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families With Pulmonary Arteriovenous Malformations
    Study Start Date :
    Dec 1, 1998
    Anticipated Primary Completion Date :
    Nov 1, 2018
    Anticipated Study Completion Date :
    Nov 1, 2020

    Outcome Measures

    Primary Outcome Measures

      Eligibility Criteria

      Criteria

      Ages Eligible for Study:
      N/A and Older
      Sexes Eligible for Study:
      All
      Accepts Healthy Volunteers:
      No
      Inclusion Criteria:
      • Member of family affected by HHT
      Exclusion Criteria:
      • Unable or unwilling to provide informed consent for DNA sample

      Contacts and Locations

      Locations

      Site City State Country Postal Code
      1 Imperial College Hammersmith Campus London United Kingdom W12 0NN

      Sponsors and Collaborators

      • Imperial College London
      • British Heart Foundation

      Investigators

      • Principal Investigator: Claire L Shovlin, Imperial College London

      Study Documents (Full-Text)

      None provided.

      More Information

      Publications

      None provided.
      Responsible Party:
      Imperial College London
      ClinicalTrials.gov Identifier:
      NCT00230620
      Other Study ID Numbers:
      • IC/CLS1
      First Posted:
      Oct 3, 2005
      Last Update Posted:
      May 29, 2015
      Last Verified:
      Aug 1, 2008
      Additional relevant MeSH terms:
      Telangiectasis
      Telangiectasia, Hereditary Hemorrhagic

      Study Results

      No Results Posted as of May 29, 2015