Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia

Completed

Conditions studied: Hereditary Hemorrhagic Telangiectasia

In brief

This study is one of the three projects of an NIH Rare Disease Clinical Research Consortium. A "consortium" is a group of centres sharing information and resources to perform research. The consortium research focuses on brain blood vessel malformations in three different rare diseases. The focus of this specific study is on Hemorrhagic Telangiectasia (HHT). HHT is a condition characterized by blood vessel malformations, called telangiectasia and arteriovenous malformations (AVMs), occurring in the brain, nose, lungs, stomach, bowels and liver. Brain AVMs (BAVMs) in HHT are difficult to study because they are rare, affecting approximately 10% of people with HHT. While other types of BAVMs have been studied in depth, studies in the HHT population have been very small. Here, we propose the first large-scale collaboration by joining with 12 HHT Centers of Excellence in North America to perform a large study of risk factors for bleeding from BAVMs, called intracranial hemorrhage (ICH) in HHT patients. The current standard of clinical practice across North America, is to screen all HHT patients for BAVMs with magnetic resonance imaging (MRI). If BAVMs are detected, patients are referred to a multidisciplinary neurovascular team for consideration for treatment. Treatment decisions are made on a case by case basis, balancing risks of complications from the BAVM with risks of therapy, but are limited by the few studies available in HHT. We hope that the knowledge we obtain about the risk factors for intracranial bleeding in these patients from this larger study will help us to improve the care of HHT patients. We plan to study risk factors for rupture of BAVMs, including primarily genetics and imaging characteristics of the BAVMs. Knowledge about risk factors will help in the care and management of HHT patients. This will be achieved through the collection of health information to construct a HHT database, blood sampling and banking (through the National Institute of Neurological Disorders and Stroke \[NINDS\]), and through genetic analysis at the University of California San Francisco.

Key facts

Study ID: NCT01158807
Run by: Unity Health Toronto
People needed: 2272
Starts: 2010-04-08
Expected to finish: 2025-06-30
Last updated by the study team: 2026-04-22

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

Definite clinical HHT diagnosis (at least 3 Curacao criteria)or genetic diagnosis of HHT or
Definite clinical HHT diagnosis (at least 3 Curacao criteria) or genetic diagnosis of HHT and Presence of Brain Arteriovenous Malformation
Able to provide informed consent
Curacao criteria:
spontaneous recurrent nosebleeds;
mucocutaneous telangiectasia at characteristic sites (lips, oral cavity or the nose);
visceral involvement such as pulmonary, hepatic or CNS BAVM; and (d) an affected first degree relative by same criteria.
Willingness
Willingness to participate in the study and ability to give informed consent

You may not qualify if…

Patients not complying with Inclusion criteria

Where it is running

Barrow Neurological Institute — Phoenix, Arizona, United States
University of Arkansas for Medical Sciences — Little Rock, Arkansas, United States
David Geffen School of Medicine at University of California, Los Angeles — Los Angeles, California, United States
University of California, San Francisco — San Francisco, California, United States
UCHealth Pulmonary Vascular Disease Clinic - Anschutz Medical — Aurora, Colorado, United States
Yale University — New Haven, Connecticut, United States
Georgia Regents University — Augusta, Georgia, United States
Johns Hopkins University School of Medicine — Baltimore, Maryland, United States
HHT Foundation International, Inc. — Monkton, Maryland, United States
Mayo Clinic — Rochester, Minnesota, United States
Washington University School of Medicine — St Louis, Missouri, United States
University of North Carolina at Chapel Hill — Chapel Hill, NC, North Carolina, United States
Cincinnati Children's Hospital Medical Center — Cincinnati, Ohio, United States
University of Utah — Salt Lake City, Utah, United States
University of Alberta — Edmonton, Alberta, Canada
St. Paul's Hospital, University of British Columbia — Vancouver, British Columbia, Canada
St. Michael's Hospital — Toronto, Ontario, Canada
Hospital for Sick Children — Toronto, Ontario, Canada
St. Antonius Hospital — Nieuwegein, Netherlands

Full record on ClinicalTrials.gov

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