Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia (BVMN6203)
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT01158807|
Recruitment Status : Recruiting
First Posted : July 8, 2010
Last Update Posted : May 4, 2021
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.
|Condition or disease|
|Hereditary Hemorrhagic Telangiectasia|
|Study Type :||Observational|
|Estimated Enrollment :||1800 participants|
|Official Title:||Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia (RDCRN# 6203, Protocol Version Date 07Jan10)|
|Actual Study Start Date :||April 8, 2010|
|Estimated Primary Completion Date :||September 2024|
|Estimated Study Completion Date :||September 2024|
HHT- Brain Arteriovenous Malformation
HHT -NO BAVM
1. Definite clinical HHT diagnosis (at least 3 Curacao criteria) or genetic diagnosis of HHT
- Aim 1: The identification of predictors of brain outcomes in HHT patients [ Time Frame: Through study completion, an average of 5 years ]This study will investigate predictors of brain outcomes in HHT patients. The investigators hypothesize that the presence of brain arteriovenous malformation (BAVM) in HHT patients versus HHT patients without BAVM and multiplicity of BAVMs will be associated with worsening functional outcome. Therefore, the comprehensive brain outcomes in HHT for future HHT clinical trials will be characterized.
- Aim 2: A severe bleeding phenotype in HHT will be defined for clinical trial readiness [ Time Frame: Through study completion, an average of 5 years ]The investigators hypothesize that weekly nasal bleeding duration in HHT will predict the need for invasive or life-sustaining therapies. HHT participant reported bleeding duration will be measured longitudinally and correlate with the need for invasive or life-sustaining therapies, as well as with ICH risk from BAVMs and with bleeding in other HHT organ phenotypes.
- Aim 3: The genetic predictors and circulating biomarkers of severe bleeding and brain outcomes in HHT will be characterized [ Time Frame: Through study completion, an average of 5 years ]The investigators hypothesize that there are shared predictors of severe bleeding from the nose and brain in HHT patients, and that identifying these predictors will allow for selection of "at-risk" patients for clinical trials. Specifically, potential genetic, plasma protein biomarker and circulating miRNA biomarker predictors of bleeding will be evaluated. Markers associated with bleeding will then be tested for association with ICH, and with other brain outcomes and HHT severity phenotypes.
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01158807
|Contact: Marie Faughnan, MD||416-864-6060 ext email@example.com|
|Contact: Dewi Clark, MHSc||416-864-6060 ext firstname.lastname@example.org|
|Principal Investigator:||Marie Faughnan, MD MSc FRCPC||Unity Health Toronto|