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Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families

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ClinicalTrials.gov Identifier: NCT00230620
Recruitment Status : Recruiting
First Posted : October 3, 2005
Last Update Posted : May 29, 2015
Sponsor:
Collaborator:
British Heart Foundation
Information provided by (Responsible Party):
Imperial College London

Tracking Information
First Submitted Date September 29, 2005
First Posted Date October 3, 2005
Last Update Posted Date May 29, 2015
Study Start Date December 1998
Estimated Primary Completion Date November 2018   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures Not Provided
Original Primary Outcome Measures Not Provided
Change History Complete list of historical versions of study NCT00230620 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families
Official Title Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families With Pulmonary Arteriovenous Malformations
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.
Detailed Description Not Provided
Study Type Observational
Study Design Observational Model: Family-Based
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population Patients with hereditary haemorrhagic telangiectasia and their families
Condition Telangiectasia, Hereditary Hemorrhagic
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: September¬†29,¬†2005)
250
Original Enrollment Same as current
Estimated Study Completion Date November 2020
Estimated Primary Completion Date November 2018   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

  • Member of family affected by HHT

Exclusion Criteria:

  • Unable or unwilling to provide informed consent for DNA sample
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts
Contact: Claire L Shovlin 0208 383 1000 c.shovlin@imperial.ac.uk
Listed Location Countries United Kingdom
Removed Location Countries  
 
Administrative Information
NCT Number NCT00230620
Other Study ID Numbers IC/CLS1
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Imperial College London
Study Sponsor Imperial College London
Collaborators British Heart Foundation
Investigators
Principal Investigator: Claire L Shovlin Imperial College London
PRS Account Imperial College London
Verification Date August 2008