2013 Research Grant Recipients

The HHT Foundation is pleased to announce that two research grants have been awarded in 2013. Both grants allow the HHT Foundation to bring new partners into the HHT community in an effort to detect the true prevalence of HHT patients in the general population, raise awareness of HHT through ICD-9 codes, and identify the natural history of this disease. It is through the generous donations of our members that the HHT Foundation is able to award these two grants.

The Kaiser Foundation Research Institute

“Collaborative Project to Improve Detection Rates of Hereditary Hemorrhagic Telangiectasia in the KPNC Population”

The Kaiser Foundation Research Institute, a division of Kaiser Foundation Hospitals, a California nonprofit public benefit corporation, has been awarded a $35,000 grant for research that will addressed the question: “What is the accuracy of specific combinations of ICD-9 codes in the diagnosis of Hereditary Hemorrhagic Telangiectasia (HHT)?”

HHT is under-diagnosed because physicians can fail to connect HHT’s diverse manifestations (e.g. epistaxis, skin telangiectasias, anemia) as part of an underlying syndrome. Researchers at the Centers for Disease Control (CDC) have developed combinations of ICD-9 codes, the “HHT Algorithms” (HHTA), which appear to have good accuracy in identifying HHT cases. The research team at the Kaiser Foundation Research Institute, led by Jonathan Zaroff, MD, with collaborating investigators from the CDC, the University of California at San Francisco, and Dr. Marie Faughnan at the University of Toronto, believes that the 3 million members of Kaiser Permanente Northern California (“KPNC”) represents an appropriate population to use to validate and further refine the HHTA and allow for previously unrecognized HHT cases to benefit from guidelines-based HHT care.

Aim 1:  Quantify the number of KPNC members without a prior HHT diagnosis who meet the specific coding criteria for the HHTA; this will be done by the KP Division of Research database programmer.

Aim 2:  Assess the validity of the HHTA using chart review of EMR data (clinical notes, lab, imaging) to determine the presence or absence of selected clinical diagnostic criteria for HHT in all potential cases identified by the programmer.

Aim 3:  Validate the HHTA by contacting a subgroup of the identified KPNC members and performing a comprehensive clinical assessment for HHT.

This study should enhance current knowledge regarding the usage of ICD-9 code based searches in identifying previously undiagnosed people with HHT as well as the yield of a comprehensive clinical assessment for HHT in this population. This is a twelve month study that began in March 2013.

Dartmouth's Geisel School of Medicine

Development of a North American HHT Database
The BioInformatics Service Center at Dartmouth’s Geisel School of Medicine

The BioInformatics Service Center (BSC) at Dartmouth’s Geisel School of Medicine has been awarded a $131,000 grant for the development of a North American HHT Database. The purpose of this database is to gather de-identified (privacy protected) clinical, radiographic (X-ray, CT scan, MRI scan), genetic, and treatment information on all HHT patients in North America who are evaluated in HHT Treatment Centers of Excellence and consent to participate. By linking all North American HHT Centers, the number of patients is increased twenty times over what any single HHT Center could gather and analyze which makes the HHT Outcomes Project a powerful research resource.

How will an HHT Database advance research? This registry will collect important clinical information on HHT patients that will ultimately help identify HHT drug protocols. For instance, the discovery of anti-angiogenic therapies, and their role in HHT, is a major breakthrough. Preliminary studies in animal models, as well as small clinical studies in humans with HHT, demonstrate that anti-angiogenic drugs can regress faulty blood vessels in HHT. In other words, anti-angiogenic drugs could lead to the elimination of, or significant reduction of, chronic nosebleeds and gastrointestinal bleeding in HHT. Studies need to be conducted to determine which HHT patients, and which aspects of HHT, will have a clinically important response to anti-angiogenic therapy. Pharmaceutical companies have worked successfully with other rare and uncommon disorders to increase the quality and longevity of life and many of these disorders are on the road to a cure. However, the pharmaceutical companies have indicated that access to this type of patient data resource, and understanding the natural history of HHT must be in place for them to invest financial resources in drug development for HHT. Therefore, the development of a North American HHT Database and the subsequent HHT Outcomes Project have been designated a key priority by the HHT Foundation.

READ newsletter article providing an update on the HHT Outcomes Registry