Volunteers needed for ongoing HHT research

UNC HHT Center of Excellence is currently looking for volunteers for a multicenter research study involving people who have Hereditary Hemorrhagic Telangiectasia

Study Title: Brain Vascular Malformations Research Network: Predictors of Phenotype and Clinical Course, Project 3: Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia

Funded By: National Institute for Health (NIH) Bethesda, Maryland USA

Study Background Information:

Hereditary Hemorrhagic Telangiectasia (HHT) is a condition that causes abnormal blood vessels. The small abnormal blood vessels in HHT are called telangiectasia and the larger ones are called arteriovenous malformations. This goal of this study is to look at people who have HHT, with and without brain arteriovenous malformations (BAVMs). BAVMs are abnormal blood vessels in the brain which affect approximately 10% of people who have HHT and can lead to brain hemorrhage.

This study will look at genetic and imaging characteristics of people with BAVMs to learn more about their risk factors.

The research aims are:

1. To construct an HHT clinical research database
2. To determine risk factors for hemorrhage in HHT patients with BAVM
3. To use genotype as potential marker for increased intracranial hemorrhage risk

Study Basics:

This is a longitudinal multicenter study of 875 HHT patients with BAVMs and 2625 HHT patients without BAVMs. For the study, you will be asked to provide medical history information about your HHT. You will be asked questions about any treatment you may be received before and after your diagnosis.

For the study visit, you will be asked to:

  • Tell a member of the study team about your HHT history including any treatment you received before and after your diagnosis
  • Provide a blood or saliva sample
  • If you have a BAVM you will be asked to provide your imaging results from which the diagnosis of BAVMs was made

Each year you will be contacted by a study team member to obtain an update about any medical treatment you may have received since your last visit to the UNC HHT Center

To be eligible to participate, you must have:

  • Definite clinical HHT diagnosis or genetic diagnosis of HHT. (For both BAVM and Non BAVM Group)
  • Presence of BAVM (for BAVM Group only)

Please call Karen Smith, RN for more information (919-966-2790) or send an email to Karen_smith@med.unc.edu with your name, phone number and times that you can be reached. We will not share your contact information with anyone outside the study.

The principal investigator at UNC for this study is Raj Kasthuri, MD. This study has received approval from the UNC Biomedical Institutional Review Board.

Link to BAVM Research Study Information on Clinicaltrials.gov