Examining genes in families affected by hereditary hemorrhagic telangiectasia
Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families With Pulmonary Arteriovenous Malformations
This study is trying to find out which genes are linked to hereditary hemorrhagic telangiectasia by looking at the DNA of family members who have and don’t have the condition.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 1000 (estimated) |
| Sex | All |
| Sponsor | Imperial College London Academic / other |
| Locations | 1 site (London) |
| Trial ID | NCT00230620 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on hereditary hemorrhagic telangiectasia (HHT), a genetic condition characterized by abnormal blood vessel formation. By sequencing DNA from both affected and unaffected family members, the study aims to identify genes that contribute to the disease. The findings will help pinpoint specific DNA variants responsible for HHT, which may be linked to functional assays in other research. This approach could enhance understanding of the genetic basis of HHT and inform future therapeutic strategies.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals who are members of families affected by hereditary hemorrhagic telangiectasia.
Not a fit: Patients who are not part of a family with hereditary hemorrhagic telangiectasia or who cannot provide informed consent will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved genetic understanding and management of hereditary hemorrhagic telangiectasia.
How similar studies have performed: Other studies examining genetic factors in hereditary conditions have shown success, indicating that this approach is promising.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Member of family affected by HHT Exclusion Criteria: * Unable or unwilling to provide informed consent for DNA sample
Where this trial is running
London
- Imperial College Hammersmith Campus — London, United Kingdom (Recruiting)
Study contacts
- Principal investigator: Claire L Shovlin — Imperial College London
- Study coordinator: Claire L Shovlin
- Email: c.shovlin@imperial.ac.uk
- Phone: 0208 383 1000
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.