Examining genes in families affected by hereditary hemorrhagic telangiectasia

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Member of family affected by HHT

Exclusion Criteria:

* Unable or unwilling to provide informed consent for DNA sample

Where it's running

• 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

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Using nintedanib to treat nosebleeds in patients with hereditary hemorrhagic telangiectasia

  This study is testing if the medication nintedanib can help reduce the number and severity of nosebleeds in people with hereditary hemorrhagic telangiectasia.

  Recruiting at 2 sites Phase 2 Centre Hospitalier Universitaire Vaudois · Bron and 2 other locations · NCT04976036

• Review of medical records for patients with hereditary bleeding disorders

  This study looks at medical records of people with hereditary bleeding disorders to see if certain traits can help predict complications like strokes or pregnancy-related issues.

  Recruiting Imperial College London · London · NCT00230685

• Body donation in HHT

  This study tests whether donated human tissue with and without vascular malformations from people with hereditary hemorrhagic telangiectasia can be analyzed to better understand the disease.

  Recruiting University Hospital, Essen · Essen, North Rhine-Westphalia · NCT07826845

• Engasertib for moderate to severe HHT: see if daily 40 mg helps with nosebleeds

  This trial tests whether taking engasertib once daily for 28 weeks reduces nosebleed frequency in adults with hereditary hemorrhagic telangiectasia compared with placebo.

  Recruiting at 4 sites Phase 3 Vaderis Therapeutics AG · Chicago, Illinois and 3 other locations · NCT07743671

• DIAG723 in Adults With HHT

  A first-in-human study tests DIAG723 versus placebo in adults with hereditary hemorrhagic telangiectasia to see if it is safe and possibly helpful.

  Recruiting at 3 sites Phase 1/2 Diagonal Therapeutics, Inc. · Camperdown, New South Wales and 10 other locations · NCT07623525

• Registry for patients with Hereditary Hemorrhagic Telangiectasia

  This study is collecting information from people with Hereditary Hemorrhagic Telangiectasia to better understand the condition and help improve treatments in the future.

  Recruiting at 16 sites Cure HHT · Birmingham, Alabama and 15 other locations · NCT06259292

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.