HHT patients with a Brain AVM, whether or not its been treated, should contact Nicole Schaefer by email or 410-357-9932 to determine eligibility. NO TRAVEL required, information gathering only, one hour of your time - this is all that is needed to impact this critical area of study!
Principal Investigators - Michael Lawton, MD, UCSF and Marie Faughnan, MD, MSc, Cure HHT Scientific Research Director
The study, entitled "Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia (HHT)" is part of a major effort of the NIH to support research on rare diseases. The HHT Foundation has joined forces with two other rare diseases to form the Brain Vascular Malformation Consortium (BVMC). The Brain Vascular Malformation Consortium (BVMC; U54NS065705) is a part of the National Institutes of Health (NIH) Rare Disease Clinical Research Network (RDCRN), supported through a collaboration between the NIH Office of Rare Diseases Research (ORDR) at the National Center for Advancing Translational Science (NCATS), and the National Institute of Neurological Disorders and Stroke (NINDS). This is a five year contract award.
HHT Centers of Excellence across North America are now actively recruiting HHT patients to participate in this NIH funded study. The goal of this research is to determine what genetic and clinical factors signal high risk for hemorrhage from brain AVMs. These risks have never been fully assessed for patients with HHT. Ultimately, the results will help doctors make decisions about brain AVM treatment for individual patients and will drive further research in brain AVM therapies.
- Definite Clinical or Genetic Diagnosis of HHT
- Brain AVM diagnosis whether treated or untreated
- Live in the United States, Canada or Europe
- Be at least 3 years of age
Treated at an HHT Center - If you have been treated at an HHT Center, then click on the link above to contact that center for participation in the study.
Not Treated at an HHT Center - Cure HHT will be recruiting patients remotely who have been diagnosed with a Brain AVM and who are over 3 years of age if the patient is not affiliated with a participating HHT Center.
For remote recruitment into this study, please email or call Nicole Schaefer at 410-357-9932.
Publications as a direct result of the Brain AVM Study
- Brain AVM Multiplicity Predicts the Diagnosis HHT - Published in Stroke, a Journal of the American Heart Association
- Elevated circulating microRNA-210 levels in patients with HHT and PAVM: A Potential New Biomarker - Published in Informa UK, Ltd.
- BVMC: Overview, Progress and Future Directions - Published in the Journal of Rare Disorders
- Severity Score for HHT - Published in the Orphanet Journal of Rare Diseases
- Other Brain AVM publications listed on official PubMed site
- Hemorrhage rates from brain arteriovenous malformation in patients with hereditary hemorrhagic telangiectasia
- The ACVRL1 c.314-35A>G polymorphism is associated with organ vascular malformation in hereditary hemorrhage telangiectasia patients with ENG mutations, but not in patients with ACVRL1 mutations
- Neurovascular manifestations in hereditary hemorrhagic telangiectasia: imaging features and genotype-phenotype correlations
- Histogram flow mapping with optical coherence tomography for in vivo skin angiography of hereditary hemorrhagic telangiectasia