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HHT PARTNERS WITH NDRI FOR TISSUE DONATION
NDRI is a not-for-profit organization with 27 years experience in procuring, storing, and distributing human cells, tissues, and organs to researchers and scientists. Tissues are procured through surgery, transplant, and autopsy from consented private donors, hospitals, eye banks, and organ procurement organizations across the nation. NDRI receives core funding for the National Rare Disease Biospecimen Resource from the National Institutes of Health and support from the NIH Office of Rare Diseases.
If you are interested in receiving biomaterials from a patient with Hereditary Hemorrhagic Telangiectasia, or you are in need of normal, normal adjacent tissue, or other diseased tissue, a researcher application must be completed. This application must be submitted in compliance with our NIH funding. Applications allow you to create a customized protocol for your specific research needs. Once registered in our database, your requests are matched to consented donor profiles.
To receive an application, you may contact a Rare Disease Coordinator at raredisease@ndriresource.org, or by phone at 1-800-222-6374. Access to the application is also available on NDRI’s website, www.ndriresource.org, under “Quick Links.”
NDRI offers human biomaterials in the forms of tissues, organs, cell lines, blood, and DNA. Access to banked materials may be viewed through NDRI’s Online Biospecimen Catalog. For immediate access to the OBC, visit http://www.ndriobc.org.
HHT FOUNDATION INTERNATIONAL RESEARCH PROJECTS FUNDED
The HHT Foundation International is supportive in funding research in understanding the mechanism of HHT disease, novel therapeutic approaches to treatment and management, and translational research. The HHT Foundation uses specific criteria in evaluating proposals for funding.
HHT FOUNDATION INTERNATIONAL GRANT REVIEW CRITERIA
Significance: Does this study address an important problem? If the aims of the application are achieved, will scientific knowledge or clinical practice in HHT be advanced? What will be the effect of this study on the concepts, methods, technologies, treatments, services, or preventative interventions that drive this field?
Approach: Are the conceptual or clinical framework, design, methods, and analyses adequately developed, well integrated, well reasoned, and appropriate to the aims of the project? Does the applicant acknowledge potential problem areas and consider alternative tactics?
Innovation: Is the project original and innovative? For example: Does the project expand and/or challenge existing paradigms or current clinical practice; does it address an innovative hypothesis or critical barrier to progress in the field? Does the project develop or employ concepts, approaches, methodologies, tools, or technologies that are novel for this area?
Investigators: Do the investigators have appropriate training and expertise to accomplish this work? Is the work proposed appropriate to the experience level of the principal investigator and other researchers? Does the investigative team (if applicable) bring complementary and integrated expertise to the project?
Environment: Does the scientific environment in which the work will be done contribute to its probability of success? Does the proposed study benefit from unique features of the scientific environment, or subject populations, or employ useful collaborative arrangements? Is there evidence of institutional support?
Need: Importance of this funding to this research. Is funding from the HHT Foundation International crucial to the success of this research, or merely helpful?
OVERALL EVALUATION: Please record a score reflecting the overall impact of the project on the field, weighting the review criteria above as you feel appropriate for each application. An application does not need to be strong in all categories to be judged likely to have a major scientific impact and, thus, deserve a high rating. For example, an investigator may propose important work that by its nature is not innovative, but is essential to move HHT research forward, or improve clinical decisions or outcomes. Please score each application from 0 to 100, with 100 representing a perfect application, and 0 a worthless one.
2007 HHT Ongoing Research Grant Awards
Mayo Clinic Team Leverages $50K HHT Foundation Research Award to $1 Million
Dr. Karen Swanson, D.O., Director of the Mayo Clinic HHT Center has been approved for funding from the Office of Orphan Products Development within the Food and Drug Administration (FDA) for an interferon protocol. Dr. Swanson’s budget is now $1 million over three years. The study, entitled “Interferon-2B Treatment in Hereditary Hemorrhagic Telangiectasia,” was directed towards determining whether interferon may provide a safe and effective treatment for HHT. A certain type of interferon has already been shown to have anti-angiogenic properties and is currently used in the treatment of infantile hemangiomas and liver hemangiomas. Both of these are diseases of abnormal blood vessel formation similar to the teleangiectases and AVMs that occur in HHT. To everyone who donated generously to the HHT Foundation so that we could provide that initial $50,000, without which the larger grant would never have been approved, we offer our wholehearted thanks on behalf of all of those with HHT. The Mayo Clinic HHT Center in Rochester, MN is actively recruiting/enrolling patients for this study who are between the ages of 18-70 and:
- Are transfusion dependent, or
- Have liver involvement with HHT and heart failure, or
- Have diffuse lung involvement with low oxygen levels.
If you would like to see if you qualify to participate in this study, please contact Karen Swanson at the Mayo Clinic College of Medicine at (507) 266-0416.
David and Clara Bartley Jordan Epistaxis Research Grant Award
This study is awarded to Dr. Jeffrey Hoag of the Johns Hopkins University School of Medicine and will develop a uniform epistaxis severity scoring system. This system will be used to assess the effectiveness of specific treatments for HHT-related epistaxis. HHT-Epistaxis Severity Scores will help to validate current treatment algorithms, and serve as a benchmark for the development of future medical and surgical treatment strategies.
2006 HHT Research Grant Awards
Mechanism of Disease $50,000 Research Grand Award
Dr. Michelle Letarte, Toronto Hospital for Sick Children, for the project: TGF-B activates eNOS and regulates vasomotor function by an endoglin-and Alk-1′ dependent mechanism.
Treatment of Disease $50,000 Research Grant Award
Professor Christine Mummery, Utrecht, The Netherlands, for the project: Differentiation of Eng-/- embryonic stem cells in embryoid bodies, a paradigm for vascuaogenesis/angiogenesis defects in HHT and a potential drug screen. Dr. Mummery will examine the effects of Thalidomide on blood vessel structure.
2005 Research Grants Funded and Completed
Mechanism of Disease: $50,000 Research Grant
Carmelo Bernabeu, PhD., Madrid, Spain, for the project: Primary Cultures of Endothelial and Monocytic Cells Derived from HHT Patients: An Open Window to Unravel the Pathogeniticy of HHT
Findings to date reported in 4 articles in 3 journals:
- Journal Human Mutation
- Journal Cardiovascular Research (2)
- Journal Molecular Diagnostics and Genetics
Mechanism of Disease $50,000 Research Grant Award
Dr. Michelle Letarte, Toronto Hospital for Sick Children, for the
project: TGF-B activates eNOS and regulates vasomotor function by an
endoglin-and Alk-1′ dependent mechanism.
Treatment of Disease $50,000 Research Grant Award
Professor Christine Mummery, Utrecht, The Netherlands, for the project:
Differentiation of Eng-/- embryonic stem cells in embryoid bodies, a
paradigm for vascuaogenesis/angiogenesis defects in HHT and a potential
drug screen. Dr. Mummery will examine the effects of Thalidomide on
blood vessel structure.
2005 Research Grants Funded and Completed
Mechanism of Disease: $50,000 Research Grant
Carmelo Bernabeu, PhD., Madrid, Spain, for the project: Primary
Cultures of Endothelial and Monocytic Cells Derived from HHT Patients:
An Open Window to Unravel the Pathogeniticy of HHT
Findings to date reported in 4 articles in 3 journals:
- Journal Human Mutation
- Journal Cardiovascular Research (2)
- Journal Molecular Diagnostics and Genetics
Treatment of Disease: Laser Treatment for Nosebleeds: When Is It Likely to Work?
By Elizabeth J. Mahoney and Stanley Shapshay. New classification of nasal vasculature patterns in hereditary hemorrhagic telangiectasia. American Journal of Rhinology. Volume 20, Number 1. January-February 2006.
Over the years, a wide variety of treatments have been used to help
manage nosebleeds in HHT patients including electro-cauterization,
nasal packing, septodermoplasty (see article herein), arterial
embolization, arterial ligation, and hormone therapy. While
many of these interventions have achieved moderate success in the
management of the HHT patient�s nosebleeds, recent attention has
focused on the use of lasers for the treatment of intranasal
telangiectases in patients with HHT.
Finally, patients responses to therapy were evaluated. Patients
were identified as a responder to the Nd-YAG laser treatment if they
noted a 50% decrease in the severity and frequency of their nosebleeds
for a period of greater than 6 months.
Interestingly, vascular pattern I was most common, while vascular pattern III was least common. Patients with vascular pattern I uniformly demonstrated a good response to the Nd-YAG laser. Conversely, nearly all of the patients with vascular pattern II were poor responders to the Nd-YAG laser treatments. Finally, 80% of patients with pattern III demonstrated a good response to the Nd-YAG laser photocoagulation treatment.
In addition to correlating vascular pattern with response to Nd-YAG
laser photocoagulation, vascular pattern classification was also
correlated with disease severity. Patients with vascular
pattern I tended to be most mildly impacted by HHT, while patients with
vascular pattern II were more severely impacted. Those with pattern III were more broadly distributed over the range of disease severity.
These findings are important for physicians caring for HHT patients
as they may help to predict response to laser therapy. For example,
when a patient with HHT is noted to have isolated intranasal
telangiectases, he or she can be counseled to anticipate a good
response to Nd-YAG laser photocoagulation, while patients with a more
diffuse vascular pattern almost uniformly have a sub-optimal response
to their Nd-YAG laser treatments. For patients with
patterns I and III, treatment with the Nd-YAG laser will typically
provide an improvement in the intensity and frequency of epistaxis for
a minimum of six months. The procedure is simple, requires only local anesthesia with sedation, and has few risks or side-effects. To
conclude, the findings in this study will allow otolaryngologists to
better counsel HHT patients and improve stratification for therapy.
2004 Research Grants Funded and Completed
Mechanism of Disease $50,000 Research Grant
Douglas Marchuck, PhD, Duke University, for Identification of Risk Factors for AVM Formation HHT
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:
- Treatment of Bleeding in the Intestine
- Treatment of Nosebleeds
- Treatment of Brain Malformations
- Treatment of Liver Malformations
- Diagnosis of Lung Malformations
- Diagnosis of Brain Malformations
- Diagnosis of Liver Malformations
- A Cheaper Blood Test to Diagnose HHT
- Basic Research Into How All Blood Vessels Are Abnormal in Persons with HHT
- 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:
- Benefits of estrogen therapy (why it works for some and not others)
- The role of diet and lifestyle choices on incidence of bleeding
- HHT and pulmonary hypertension
- HHT�s involvement in heart defects
- Migraines and HHT
- Anemia and depression associated with HHT
- HHT and dental problems, including bleeding in the mouth
- 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.
