Hereditary Hemorrhagic Telangiectasia clinical trials at UC Health
2 research studies open to new patients
open to all eligible people
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.
at UCLA UCSF
open to eligible people ages 18 years and up
Magnetic resonance (MR) imaging is performed with contrast agents to highlight the blood vessels and allow interpretation and diagnosis of blood vessel abnormalities. HHT (Hereditary Hemorrhagic Telangiectasia) is a disease of blood vessels, and can suffer fatal bleeding if abnormal blood vessels are not detected and treated early. Patients with HHT also require many imaging studies through their lifetimes for surveillance of blood vessels. Many HHT patients also have co-existing iron deficiency anemia from bleeding in their nose and gastrointestinal tract, and receive daily iron therapy. Ferumoxytol is an alternative MR contrast agent, which is FDA (Food and Drug Administration) approved for the treatment of iron deficiency anemia. In addition, it is not associated with the risks to the kidneys of the other agents. The use of ferumoxytol for MR imaging may benefit the patients who do not currently receive imaging due to the contraindications of the conventional contrast agents. It avoids the use of ionizing radiation. Also, the conventional contrast agents are associated with risks. Iodinated contrast in CT is associated with significant risks of kidney damage. Another imaging technique, MR, uses gadolinium based contrast agents. Gadolinium, if used in patients with pre existing kidney dysfunction (defined as GFR < 30ml/min) is associated with the development of another devastating disease called nephrogenic systemic fibrosis. As HHT patients will require repeated scans throughout their lifetimes, this study will provide them a safer alternative. Ten patients from the HHT clinic in whom the use of ferumoxytol as an MR agent is clinically indicated will be invited to participate in this study, which will determine if MR with ferumoxytol is able to detect and characterize vascular malformations in HHT.