Brain AVM study

Study Description: There are three parts to this study. The first part will involve the collection of information. Each subjects age, gender, symptoms, HHT genetic results, results of angiograms and other imaging tests, basic data about other organ involvement and general health of the subject will be collected This information will be collected until the end of the study (2019). The second part of the study involves the collection of approximately 4 teaspoons of blood and stored at the NINDS Repository. For subjects that have been diagnoses with BAVM and live far away, they will have the option of doing a remote consent. These subjects will provide a saliva sample rather than blood sample for DNA. The overall goal of NINDS Repository is to establish a bank of samples from individuals with neurological diseases and controls. This bank will allow for distribution of DNA to scientists to help learn more about neurological diseases and many other diseases. For subjects who are unable to give a blood sample, a commercially available saliva kit will be mailed to the subject?s home. Approximately 2 ml of saliva will be collected and mailed to the UCSF for DNA extraction. One sample of blood/saliva will be collected after the consent is obtained. The third part of the study will analyze the DNA that is received from the NINDS Repository to see if some gene changes (other than HHT disease-causing mutations) affect the risk of HHT patients having an intracranial hemorrhage from BAVMs. Identifying genetic and non-genetic factors that increase risk for hemorrhage may provide insight into improved treatment options for patients in the future.

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Principal Investigator: James Gossage

Eligibility Criteria: Subjects are eligible to participate in this protocol if they have the following: ? Subject must have a definite diagnosis of clinical Hereditary HemorrhagicTelangiectasia (HHT) diagnosis (at least 3 Curacao criteria as defined as 1. nosebleeds 2. telangiectasias 3. organ Arteriovenous Malformation (AVM) 4. affected first-degree relative) or genetic diagnosis of HHT. ? For telephone consent subject must have a definite clinical HHT diagnosis (at least 3 Curacao criteria) or genetic diagnosis of HHT AND Presence of Brain Arteriovenous Malformation (BAVM). ? Subject must be able to provide informed consent, parental consent and/or child assent

Compensation: No, subjects will not be compensated.


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