Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families

Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families With Pulmonary Arteriovenous Malformations


Lead Sponsor: Imperial College London

Collaborator: British Heart Foundation

Source Imperial College London
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.

Overall Status Recruiting
Start Date December 1998
Completion Date November 2020
Primary Completion Date November 2018
Study Type Observational
Enrollment 250

Sampling Method: Non-Probability Sample


Inclusion Criteria:

- Member of family affected by HHT

Exclusion Criteria:

- Unable or unwilling to provide informed consent for DNA sample

Gender: All

Minimum Age: N/A

Maximum Age: N/A

Healthy Volunteers: No

Overall Official
Last Name Role Affiliation
Claire L Shovlin Principal Investigator Imperial College London
Overall Contact

Last Name: Claire L Shovlin

Phone: 0208 383 1000

Email: [email protected]

Facility: Status: Contact: Investigator: Imperial College Hammersmith Campus Claire L Shovlin 0208 383 1000 [email protected] Claire L Shovlin Principal Investigator
Location Countries

United Kingdom

Verification Date

August 2008

Responsible Party

Type: Sponsor

Has Expanded Access No
Condition Browse
Study Design Info

Observational Model: Family-Based