Brain AVM Study
Clinical research aims to advance medical knowledge by studying people. 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. Cure HHT 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.
HOW CAN I ENROLL IN THE BVMC STUDY?
- Michael Lawton, MD, UCSF
- Marie Faughnan, MD, MSc, Cure HHT Scientific Research Director
HHT Centers of Excellence across North America, along with Cure HHT (also known as the HHT Foundation International, Inc.) 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.
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!
- 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
- BVMC: Overview, Progress and Future Directions
- Severity Score for HHT
- 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
- Association of common candidate polymorphisms with vascular malformations and intracranial hemorrhage in Hereditary Hemorrhagic Telangiectasia. Pawlikowska L, Nelson J, Guo D, McCulloch CE, Lawton M, Kim H, Faughnan ME and the Brain Vascular Mlaformation Consortium HHT Investigator Group. Mol Genet Genomic Med. 2018;00:1-7 https://doi.org/10.1002/mgg3.377
- Surgical Treatment versus Non-Surgical Treatment for Brain Arteriovenous Malformation in Patients with Hereditary Hemorrhagic Telangiectasia. Tayebi A, Kim H, Nelson J, Hetts SW, Krings T, terBrugge KG, Faughnan ME, Lawton MT and the BVMC HHT Investigator Group. Neurosurgery. 2018 Jan 1;82(1):35-47. doi: 10.1093/neuros/nyx168. PMCID: PMC5732039 [Available on 2019-01-01].
- Prevalence and predictors of anemia in hereditary hemorrhagic telangiectasia. Kasthuri RS, Montifar M, Nelson J, Kim H, Lawton MT, Faughnan ME and the Brain Vascular Malformation Consortium HHT Investigator Group. Am J Hematol. 2017 Jun 22. doi: 10.1002/ajh.24832. [Epub ahead of print]