Research Priorities

2011 HHT Research Priorities

A committee composed of HHT researchers and clinicians have identified particular areas of research that the HHT Foundation should focus its' efforts on achieving and have determined how the Foundation agenda can be promoted to NIH and beyond.

Read the Research Committee Report

Foundation on which HHT Research Priorities were Established

Dr. Peter Terry Asked And Our Members Answered!

HHT is a multi-system disorder with complex genetic origins. Given limited resources, how do we decide what to study first?

In the autumn of 2004, Dr. Peter Terry of Johns Hopkins University, a distinguished member of the HHT Foundation's Scientific and Medical Advisory Board (SMAB), decided to begin tackling this urgent question. Scientists, clinicians, and researchers all had opinions to consider. Dr. Terry wanted to make sure that the voices of those who actually struggle with HHT in their own daily lives were also heard.

Dr. Terry developed a straightforward Research Priority Survey. We at the Foundation distributed it in every way possible: at the conference, via e-mail, and in the Fall/Winter 2004 newsletter.

And you, our members, responded! The surveys poured in by mail, e-mail, and fax. 120 of you sat down, gave the matter thought, and put pen to paper, numbering the following areas according to your own personal sense of urgency with regard to HHT:

1. Treatment of Bleeding in the Intestine
2. Treatment of Nosebleeds
3. Treatment of Brain Malformations
4. Treatment of Liver Malformations
5. Diagnosis of Lung Malformations
6. Diagnosis of Brain Malformations
7. Diagnosis of Liver Malformations
8. A Cheaper Blood Test to Diagnose HHT
9. Basic Research Into How All Blood Vessels Are Abnormal in Persons with HHT
10. Other Areas of Research

Survey Results

Research on Nosebleed Treatments was the clear number one priority for 54 (or 45%) of the respondents, with 82 individuals (or 68%) naming Nosebleed Treatments as their first, second, or third priority.

Treatment of Bleeding in the Intestine was also a top priority. Although only 13 respondents (or 11%) ranked it first, 56 (or 47%) ranked it first, second, or third.

Basic Research was also highly ranked. 19 individuals (or 16%) gave it a top ranking, with 54 respondents (or 45%) making it their first, second, or third choice.
For complete results, see the table herein. (Please note that not everybody included every item; this explains why there are different total respondents per item.)

Types of Research

The results of the survey demonstrate that our members support both types of meaningful research: clinical and basic.

Clinical research focuses on patients and treatments, trying to find fairly immediate answers to improving the daily miseries of HHT sufferers. Treatment regimens might be compared, or the efficacy of a new drug or technique evaluated. Studies directed towards developing new or improved nosebleed or GI bleeding treatments would fall into this category.

Basic research focuses on the "whys" of HHT. What do the genes that cause HHT actually do to create the various manifestations of the disorder? Why are some people with the same gene affected more severely while others are barely affected at all?

Basic research is more likely to lead to an in depth understanding of disease, and to an actual cure. It will also help determine why some organs are involved and why others are not within the same family. Furthermore, it will likely permit us to combine our efforts with those of other groups who face the same fundamental questions. For example, HHT is a blood vessel disorder. Studying the causes of these vessels' irregular formation may also benefit cancer research, helping to explain why tumors grow.

Basic Research into how all the blood vessels are abnormal in persons with HHT is representative of this type of far reaching research.

What Had We Left Out?

The survey included a question on Other areas of research that we haven't thought of. Many respondents shared their ideas, including research on:

1. Benefits of estrogen therapy (why it works for some and not others)
2. The role of diet and lifestyle choices on incidence of bleeding
3. HHT and pulmonary hypertension
4. HHT's involvement in heart defects
5. Migraines and HHT
6. Anemia and depression associated with HHT
7. HHT and dental problems, including bleeding in the mouth
8. Possible interactions of prescription drugs for people with various HHT symptoms

Our Thanks For Your Participation

We want to thank Dr. Terry for initiating this valuable project. We also want to thank each and every one of you who took the time to complete and return the completed surveys to us. Dr. Terry has formed a Research Priority Committee composed of members of our SMAB to work on this crucial issue. Thanks to you, that group will now be able to take into account the wishes of HHT patients as well as those of scientists and clinicians.