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 (AVM). The purpose of this study is to learn more about brain AVMs (BAVMs) and bleeding in HHT. We plan to study risk factors for rupture of BAVMs and also for other bleeding and features of HHT disease, including primarily genetics and imaging characteristics of the BAVMs The study will recruit people 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. It was started 10 years ago and with renewed funding we are able to further our goals.
The research aims are:
- To increase our HHT clinical research database.
- To define a severe bleeding symptom in HHT for clinical trial readiness.
- To identify genetic predictors and biological markers of severe bleeding and brain outcomes in HHT.
About this Study
This is a longitudinal study about 800 people with HHT will be asked to participate in this study, with an anticipation of recruiting 200 people with BAVMA longitudinal study means that we follow our participants over many years. The study will continue to collect information about changes in decease or treatment until the end of the study. At the first visit, participants will be asked to provide medical history information about their HHT. Participants will be asked questions about treatment that was received before and after diagnosis. After the first appointment, participants will be asked on a yearly basis about any medical treatment received since the last appointment.
For the first visit, participants will be asked to:
- Tell a member of the study team about their HHT history
- Provide a blood or saliva sample
- Provide imaging results from which the diagnosis of BAVMs was made (participants with BAVM)
To be eligible to participate, you must have:
- Definite clinical HHT diagnosis (at least 3 clinical Curacao criteria) or genetic diagnosis of HHT. OR
- Curacao criteria:
- spontaneous recurrent nosebleeds
- mucocutaneous telangiectasia at characteristic sites (lips, oral cavity, fingers or the nose)
- visceral involvement such as gastrointestinal telangiectasia (with or without bleeding), pulmonary arteriovenous malformation (AVM), hepatic VM, brain AVMs, spinal AVM
- an affected first-degree relative by same criteria
- Definite clinical HHT diagnosis (at least 3 Curacao criteria) or genetic diagnosis of HHT.
Individuals are NOT eligible to participate if:
- HHT is not diagnosed in that individual
- The individual cannot provide consent
How to join this study
There are two ways to enroll in this study:
- Research staff can contact individuals
Individuals diagnosed with HHT and brain AVM and want to join this BVMC study, and do not live close to a participating institution or do not want to attend a center. The HHT Foundation can help with participation (no travel required).
Individuals can have someone from the research team at HHT Foundation contact them about participating in a study by providing the information below:
- Contact a Clinical Center:
Contact the research study coordinator of any of the participating institutions by phone or by e-mail.
Please use the information below to inquire about participation.