The Year of Action Part 3: HHT Outcomes Registry

Building Database Graphic

HHT Outcomes Registry

The HHT Foundation recognizes the critical importance of an HHT outcomes database. To this end, the HHT Foundation has solely funded this project and enlisted the expertise at the BioInformatics Service Center (BSC) at Dartmouth's Geisel School of Medicine to develop the HHT Outcomes Registry. The purpose of this registry is to conduct natural history studies as a critical step in furthering research on HHT and to follow HHT patients on a long-term basis. Bio/Pharma companies have indicated that access to this anonymous patient data resource is a determining factor in their decision to invest financial resources in drug development for HHT.

HHT experts have been working collaboratively across North America to identify priority research questions to be answered via the HHT Outcomes Registry. These questions relate to every aspect of disease (from nasal bleeding to stroke), with emphasis on determining the outcomes (severity of symptoms, quality of life, heart failure, stroke, severe bleeding, etc. ), the personal factors that affect these outcomes (HHT genes and modifier genes, lifestyle, age, sex, etc.) as well as therapies. The answers to these questions can then to assist in targeting clinical research studies of novel new therapies. The Registry will include a module for patient entered data including HHT diagnosis, treatment, and quality of life. Patient’s will enter information on outcomes of treatment and changes in quality of life.

The Cystic Fibrosis Foundation serves as the model of success in developing novel treatments and increasing the lifespan of patients. As a result of their investment in their registry. which is considered the Gold Standard, the research produced and resulting new treatment has lead to an increased life expectancy of over 40 years!

Further, according to Michael Okun MD, Medical Director of the National Parkinson’s Foundation, “The National Parkinson Foundation launched a critical effort aimed at improving the quality of care for the Parkinson's disease patient.  Now known as the Parkinson Outcome Project, it is the largest longitudinal study of Parkinson's disease ever conducted.  Nineteen centers from around the world have participated and the project is moving into its fourth year.  The study was modeled after the successful effort engineered by the Cystic Fibrosis Foundation, and it has already yielded critical data and publications, but the best is yet to come."

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 Registry a powerful research resource. The HHT Foundation will provide financial support to all participating HHT Centers in this endeavor.

Preliminary studies in animal models, as well as small clinical studies in humans with HHT, demonstrate that antiangiogenic drugs can regress faulty blood vessels in HHT;  antangiogenic drugs could lead to elimination of, or significant reduction of, chronic nosebleeds and gastrointestinal bleeding in HHT. There is evidence that one such agent, Avastin, reverses heart failure and liver failure in patients with liver vascular malformations, and is an alternative to liver transplant, though only tested in small numbers of patients to date. These agents may have a future role for shrinking brain and lung arteriovenous malformations. Studies need to be conducted to determine which HHT patients, and which aspects of HHT, will have a clinically important response to antiangiogenic therapy. In addition, optimal dosing needs and any side effects to be determined for HHT patients. Detailed clinical and genetic information about HHT patients will be collected in the HHT Outcomes Registry. This will allow appropriate selection of patients for these types of trials, as well as design of the specific trials according to measured determinants and improved treatment outcomes.