HHT: There’s an App for That

Presenter

Dr. Jeffrey Terrell received his medical degree from Harvard Medical School and received his training at Massachusetts Eye & Ear Infirmary. He is currently a Professor in the Department of Otolaryngology - Head and Neck Surgery at the University of Michigan, where he has served on the faculty for 23 years. Dr. Terrell is board certified in Otolaryngology and Medical Informatics and is a full-time Rhinologist who has been treating HHT patients his entire career.  We are grateful for Dr. Terrell’s insight into the needs of HHT patients and his desire to meet those needs through the development of an HHT App.

Webinar

Join Dr. Jeffrey Terrell to discuss the exclusive HHT app being developed by his Michigan team. In the near future patients can track medical treatments, test results, and nosebleed frequency as well as get personalized notifications and reminders to help them manage their HHT.  The app will also provide access to  Cure HHT educational information on their mobile device.

 


Webinar Highlights

  • Why a health App is important for patients with a chronic disease
  • Design framework for HHT App
  • Proposed features of the HHT App
  • Apple's "CareKit" components
  • HHT App Development Survey - We need your feedback on the functionality of this tool

ACT NOW

  • SHARE this information and webinar link with your family members affected by HHT

Cure HHT

Cure HHT is the cornerstone of the HHT community, advancing one common hope - to give those affected by HHT a chance for a normal life. Patient and physician education is the key to increasing HHT awareness and preventing unnecessary complications of this disease. This webinar series is just one of many ways we accomplish this mission.

The development of an HHT App is for the benefit of the HHT patient and their physician. It is through the generosity of donors in our community that we can make an HHT App possible for you and your family.  Please consider investing in the development of this tool. You can make a donation to this project at (mention “HHT App” in the comment section). We are grateful for any contribution.

 

In the Know – HHT and Kids

Presenter

Madan-Khetarpal, SuneetaDr. Madan-Khetarpal is the Clinical Director of Medical Genetics, associate professor in the Department of Pediatrics and associate professor of Ophthalmology. She has been practicing for over 27 years with a special emphasis in birth defects as well as the diagnosis and management of a variety of hereditary connective tissue disorders, including HHT.

 

 

Webinar

Join Dr. Suneeta Madan-Khetarpal, Co-Director of the University of Pittsburgh HHT Center at Children's Hospital of Pittsburgh of UPMC, to discuss unique features of HHT in children. Through the family tree, these findings aid in diagnosing children with HHT earlier in life, resulting in more effective treatment. There will be time for Q&A after the presentation.

Webinar Highlights

  • Genetic testing protocols
  • Significance of family history in determining HHT
  • Review of several HHT cases

 

ACT NOW

  • SHARE this information and webinar link with your family members affected by HHT

Cure HHT

Cure HHT is the cornerstone of the HHT community, advancing one common hope - to give those affected by HHT a chance for a normal life. This webinar series is just one of many ways we accomplish this mission. Beginning in May 2016, Cure HHT members will have access to unlimited webinars, discounted conference registration and much more. This is one of two webinars offered this year that will be available to everyone. Please consider joining or renewing your Cure HHT membership so that you can participate in all activities within the HHT community.

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ABCs of AVMs: Vascular Malformations of the Lungs and Brain in HHT

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If you don’t want to be a Cure HHT Member you can choose the $20 pay-per-view option

Presenters

Conrad, Miles UCSFDr. Miles Conrad is Associate Clinical Professor in the Department of Radiology at UCSF and Co-Director of the UCSF HHT Center of Excellence.  Dr. Conrad received his MD from Dartmouth Medical School and his MPH from Harvard School of Public Health. He completed a Diagnostic Radiology residency and a fellowship in Interventional Radiology at University of Arizona. He specializes in the treatment of PAVMs.

 

Hetts, Steven UCSFDr. Steven Hetts is Associate Professor of Radiology, Co-Director of the UCSF HHT Center of Excellence and Chief of Interventional Neuroradiology at USCF Mission Bay Hospitals. Dr. Hetts graduated from Harvard Medical School, and completed a Diagnostic Radiology residency and fellowship in Diagnostic and Interventional Neuroradiology at UCSF

 

 

Webinar

Join Doctors Miles Conrad and Steven Hetts for a discussion on the diagnosis and treatment of brain arteriovenous malformations (BAVM) and an update on the latest lung AVM (PAVM) treatment followed by a Q&A period.

Webinar Highlights

 

ACT NOW

Cure HHT members will have access to unlimited webinars, discounted conference registration and much more. Please consider joining or renewing your Cure HHT membership so that you can participate in all activities within the HHT community.

community

 

 

CureHHT-Logo-Lockup-RGB

Cure HHT is the cornerstone of the HHT community, advancing one common hope - to give those affected by HHT a chance for a normal life. This webinar series is just one of many ways we accomplish this mission. Beginning in May, Cure HHT members will have access to unlimited webinars, discounted conference registration and much more.

Pumping Iron in HHT

Presenters

Totonto Team - Ronalee Rbert Zhenxiu Cheng, Rose Pantalone Marie FaughnanThe webinar on Pumping Iron in HHT is being presented by 4 members of the multi-disciplinary team at St. Michael's Hospital, HHT Center in Toronto, Canada.

The team presenting tonight consists of Dr. Faughnan who has been working with HHT patients for almost 20 years and is the director of the HHT program.  Ronalee Roberts, team dietician; Rose Pantalone, HHT clinic nurse; and Zhenxiu Cheng, a nurse in the Medical Day Care where patients receive their iron.

Webinar

Join this team of experts from the HHT Center of Excellence at the University of Toronto/St. Michael's Hospital for a discussion of iron deficiency anemia in HHT.  Learn how to “pump iron” with the right diet, medications and treatments.

Webinar Highlights

  • Causes of anemia
  • Ways to increase iron supply
  • How to get the most out of the iron in your diet
  • Iron treatments and side effects
  • What are the risks/benefits of iron supplements and iron infusion
  • Handout - Pumping Iron in HHT

ACT NOW

  • SHARE this information and webinar link with your family members affected by HHT

Cure HHT

Cure HHT is the cornerstone of the HHT community, advancing one common hope - to give those affected by HHT a chance for a normal life. This webinar series is just one of many ways we accomplish this mission. Beginning in May, Cure HHT members will have access to unlimited webinars, discounted conference registration and much more. Please consider joining or renewing your Cure HHT membership so that you can participate in all activities within the HHT community.

 community

Cure HHT Launches 23rd Center

mass gen23rd HHT Center of Excellence in North America

Massachusetts General Hospital

Boston, MA

 

 

mas gen notesCure HHT has brought Massachusetts General Hospital (MGH) together with Mass General Hospital for Children and Massachusetts Eye & Ear Infirmary to form the only facility in the state specializing in the diagnosis, evaluation and treatment of HHT.

This collaboration allows them to provide specialized care across a patient’s lifespan. The MGH HHT Center offers compassionate, family-centered multidisciplinary care, led by Dr. Josanna Rodriguez-Lopez, coordinating care for adult and pediatric patients. She is joined by an outstanding group of physicians, including Dr. Raymond Liu as the Associate Director, who share her dedication for the multidisciplinary treatment of this disease.

Rodriguez-Lopez, Josanna MGH

 

Dr. Rodriguez-Lopez has dedicated her career to treating patients with pulmonary vascular disease. As the Associate Director of the Pulmonary Hypertension and Thromboendarterectomy Program at MGH, she specializes in all aspects of pulmonary vascular disease, with a particular interest in pulmonary arteriovenous malformations. She has several years of experience managing HHT and is looking forward to growing the HHT program as well as developing a strong partnership with Cure HHT and the HHT community.

 

Specialties at MGH HHT Center  (*adult and pediatric services)

Cardiology*

Dermatology

Dentist/Oral Surgeon

Genetics/Counseling

Gastroenterology*

Hematology*

Interventional Radiology

Neuro-interventional Surgery

Neurology/Stroke

Neurosurgery*

OB/GYN

Otolaryngology (ENT)*

Primary Care (PCP)

Pulmonology*

Radiology

Surgery*

 

MGH_Mass General Childrens Hospital

MGH_Harvard Logo

MGH_Mass Eye and Ear

MGH_Hospital

 

 

 

HHT and PH – Connecting the Dots

Presenter

Dr. Chakinala is an Associate Professor in the Department of Internal Medicine and is Director of the Pulmonary Hypertension Care Center and Co-Director of the HHT Center at Washington University. He is board certified in Internal Medicine, Pulmonary Medicine, and Critical Care Medicine. Dr. Chakinala is a member of the Scientific Leadership Council of the Pulmonary Hypertension Association, chair-elect of the Pulmonary Hypertension Care Centers Oversight Committee, and member of the Cure HHT’s Global Research Medical Advisory Board.  His interests include clinical management and clinical research in the areas of pulmonary hypertension, pulmonary arterio-venous malformations, pulmonary thrombo-embolic diseases, and end-stage lung diseases.

Webinar

Join Dr. Murali Chakinala to learn about the dots connecting HHT and Pulmonary Hypertension. He discussed how HHT can cause PH, how the combinations of these diseases affect a patient and what treatment options are available.

Webinar Highlights

ACT NOW

  • SHARE this information and webinar link with your family members affected by HHT

Cure HHT

Cure HHT is the cornerstone of the HHT community, advancing one common hope - to give those affected by HHT a chance for a normal life. This webinar series is just one of many ways we accomplish this mission. If you found value in this information, please consider making a donation NOW to keep this initiative moving forward. It is through the generosity of our donors that we can continue to provide this valuable education to the HHT community.

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Pomalidomide in HHT and Transfusion-Dependent Vascular Ectasia: a Phase I Study

Cleveland Clinic LogoPrincipal Investigator: Keith McCrae, MD

This study will be conducted at Cleveland Clinic Main Campus and Regional Hospital Facilities. This study will evaluate patients with GI bleeding due to HHT or with HHT-related nosebleeds that require ongoing transfusion or iron replacement therapy. Patients with GI bleeding must have a requirement for at least 4 units of blood or 1 gm of iron infusion per 4 month period, while patients with nosebleeds must require 2 units of blood or 500 mg of iron per 4 month period. The effect of Pomalidomide on bleeding will be assessed during an initial 4-5 month period in which the dose of Pomalidomide is increased monthly, as needed. Patients will then be observed over a 4 month period on a dose of Pomalidomide found to be effective, then over a dose tapering period and for 6 months after stopping the drug.

Study Question: Will Pomalidomide therapy reduce bleeding and the requirement for ongoing transfusion or iron therapy  in patients with HHT by 50% or greater?

Study Goals:

  1. To determine whether the use of Pomalidomide will reduce the requirement for transfusion and intravenous iron administration for patients with chronic gastrointestinal bleeding or nosebleeds due to HHT
  2. To monitor possible bleeding episodes in patients 6 months after discontinuation of Pomalidomide therapy.

You may qualify to participate if you:

  • Are 18 years of age or older with an HHT diagnosis
  • Have GI Bleeding OR Nosbleeds related to HHT
    • GI Bleeding MUST require at least 4 units of blood or 1gm of iron infusion per 4 month period
    • Nosebleeds MUST require 2 units of blood or 500mg of iron per 4 month period
  • Platelet count >125,000
  • Do not have any conditions listed in "Who Cannot Participate" section below

Who Cannot Participate:

  • Pregnant women
  • Prior treatment with Avastin within the past 6 weeks
  • Myelodysplasia
  • Requirement for chronic aspirin, NSAID therapy or anticoagulation therapy
  • Renal insufficiency
  • Currently enrolled in other interventional trials
  • Hemophilia, advanced liver disease, or known effect in the coagulation system (not including HHT itself)

Study Procedure: 

  • Screening period including labs and signing of informed consent.
  • Oral administration of 1 mg/day of Pomalidomide, increasing to a maximum of 5 mg/day at the physician’s discretion on a monthly basis.
  • Continuation of stable dose of Pomalidomide for 4 months.
  • Gradual reduction of Pomalidomide dose between 1-5 months until discontinuation.
  • Monitoring for 6 months after discontinuation of Pomalidomide.

What is required of me?

  • Travel to the Cleveland Clinic Main Campus approximately once each month
  • Blood tests at a doctor’s office or hospital near you two weeks after each Cleveland Clinic visit
  • There will be compensation for parking on the days when coming to the main campus is required

To participate in this trial, contact the Principal Investigator:  

Keith McCrae, MD
9500 Euclid Avenue, R35
Cleveland OH 44195
(216) 445-7809

Brain AVM Study

HHT patients with a Brain AVM, whether or not its been treated, should contact Nicole Schaefer by email or 410-357-9932 to determine eligibility. NO TRAVEL required, information gathering only, one hour of your time - this is all that is needed to impact this critical area of study!

 

RDCRN logo - NIH Brain AVM Study

HOW CAN I ENROLL IN THE BVMC STUDY?

Principal Investigators - Michael Lawton, MD, UCSF and Marie Faughnan, MD, MSc, Cure HHT Scientific Research Director

The study, entitled "Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia (HHT)" is part of a major effort of the NIH to support research on rare diseases. The HHT Foundation has joined forces with two other rare diseases to form the Brain Vascular Malformation Consortium (BVMC). The Brain Vascular Malformation Consortium (BVMC; U54NS065705) is a part of the National Institutes of Health (NIH) Rare Disease Clinical Research Network (RDCRN), supported through a collaboration between the NIH Office of Rare Diseases Research (ORDR) at the National Center for Advancing Translational Science (NCATS), and the National Institute of Neurological Disorders and Stroke (NINDS). This is a five year contract award.

Official BVMC website

HHT Centers of Excellence across North America are now actively recruiting HHT patients to participate in this NIH funded study.  The goal of this research is to determine what genetic and clinical factors signal high risk for hemorrhage from brain AVMs.  These risks have never been fully assessed for patients with HHT. Ultimately, the results will help doctors make decisions about brain AVM treatment for individual patients and will drive further research in brain AVM therapies.

Eligibility

  • Definite Clinical or Genetic Diagnosis of HHT
  • Brain AVM diagnosis whether treated or untreated
  • Live in the United States, Canada or Europe
  • Be at least 3 years of age

Treated at an HHT Center - If you have been treated at an HHT Center, then click on the link above to contact that center for participation in the study.

Not Treated at an HHT Center - Cure HHT will be recruiting patients remotely who have been diagnosed with a Brain AVM and who are over 3 years of age if the patient is not affiliated with a participating HHT Center.

For remote recruitment into this study, please email or call Nicole Schaefer at 410-357-9932.

Publications as a direct result of the Brain AVM Study

  1. Brain AVM Multiplicity Predicts the Diagnosis HHT - Published in Stroke, a Journal of the American Heart Association
  2. Elevated circulating microRNA-210 levels in patients with HHT and PAVM: A Potential New Biomarker - Published in Informa UK, Ltd.
  3. BVMC: Overview, Progress and Future Directions - Published in the Journal of Rare Disorders
  4. Severity Score for HHT - Published in the Orphanet Journal of Rare Diseases
  5. Other Brain AVM publications listed on official PubMed site

 

Topical Timolol for Cutaneous Telangiectasias in patients with HHT

Principal Investigator: Bernard Cohen, MD

6628-1The Johns Hopkins Department of Dermatology is beginning a study to determine if topical timolol is an effective treatment of telangiectasia spots in HHT patients. The topical liquid treatment has traditionally been used for infant hemangiomas, a type of birthmark made of blood vessels, with successful results.

The goal of the study is to reduce and hopefully eliminate skin telangiectasia using the topical timolol. Current telangiectasia treatments available are laser therapy and surgical skin-grafting, both of which are costly and may be associated with significant side effects.

Question: Does the topical application of the non-selective beta-adrenergic receptor timolol maleate effectively reduce the size and number of cutaneous telangiectasias in patients with HHT?

Procedure: Investigators will pick three sites to treat with timolol along with three other control sites to treat with Vaseline. The participant will apply timolol twice daily to the three sites and Vaseline twice daily to the control sites. Participants will then return at one, three and six months after the treatment is started to monitor progress.

Compensation: There will not be any monetary compensation for the study, however participants will be offered a free skin cancer screening during the first visit. If your insurance does not cover timolol, you can purchase it from Walmart for $4 off the formulary list. You will likely need to purchase three to four bottles over the course of the study.

Study Locations:

Rubenstein Bldg
200 North Wolfe Street
Baltimore, MD 21287

Green Spring Station
10755 Falls Road
Lutherville, MD 21093

Potential Risks: Rare but potential side effects of using the timolol solution on the skin include itching (pruritus) and redness (erythema). These are mostly mild in intensity and are usually temporary.

If interested, contact: [email protected] (preferred) or call (410) 955-0986 and state that you wish to leave a message for the timolol study for Dr. Cohen and Dr. Jeon.

A Randomized Controlled Trial of Bevacizumab for HHT-Related Epistaxis

AvastinEXCLUSION CRITERIA MODIFIED - This change will allow the investigators to include more HHT patients in the study.  "We had previously been finding many patients ineligible because of the frequency with which they require nasal treatments- but once this modification is approved by the Stanford IRB we should be able to now enroll these patients who previously did not qualify." 

ONLY 15 more patients needed to conclude this study. Financial support is available to offset reasonable travel expenses to Palo Alto, CA for Bevacizumab (Avastin) clinical trial participants. Complete, save, and email the ELIGIBILITY FORM to [email protected] to be considered for this study.

 

Cure HHT, in partnership with the American Academy of Otolaryngology, is funding this important research as a follow-up to the Cure HHT North American Study of Epistaxis (NOSE Study) in which the efficacy of four agents (i.e., Bevacizumab, Estriol, Tranexamic Acid, and Saline) were tested in the first large-scale multi-center clinical trial.

The Stanford Sinus Center at the Stanford School of Medicine is poised to carry out the first randomized, double-blind, placebo-controlled clinical trial of bevacizumab injection versus saline control for the management of HHT-related epistaxis, by which they hope to shift the current clinical practice paradigms in treating this debilitating disease.

Study Aims:

  1. Determine if intranasal bevacizumab injection decreases nosebleed frequency and severity compared to placebo when used in conjunction with electrocautery for patients with HHT, as measured by the ESS scoring system.
  2. Determine if intranasal bevacizumab injection results in a greater improvement in quality of life compared to placebo when used in conjunction with electrocautery for patients with HHT.
  3. Determine the cost-effectiveness of intranasal bevacizumab injection compared to placebo when used in conjunction with electrocautery for patients with HHT.

Question: 

Does Avastin injection inside the nose at the time of nasal bipolar cautery reduce nasal bleeding?

Study Procedure: 

  • Injection of Avastin or placebo inside the nose at the time of nasal electrocautery surgery (while patient is asleep)
  • Patient completed surveys about nasal bleeding at 1 month, 2 months, 4 months, and 6 months after treatment

Who can participate:

  • Anyone 18 or older with HHT who would like to have electrocautery for their nasal bleeding AND
  • Can complete surveys at the four time points after surgery

Who cannot participate:

  • Anyone receiving prior treatment with Avastin within the past 1 year
  • Anyone who has had nasal electrocautery within the past 6 months
  • Pregnant women
  • Anyone with immune system disease
  • Children under 18

What is required of me to participate?

  • Travel a minimum of one (1) trip to Stanford, CA - a visit in the clinic and surgery the next day*
  • Have reliable contact information to complete the surveys
  • Complete several surveys by mail after surgery at 1 month, 2 months, 4 months, and 6 months
  • There is no monetary compensation for participation
  • While the cost of the Avastin will be fully covered by the research funding, your insurance will be billed for any hospital-related costs of the surgery and you may be responsible for a co-pay.

What do I have to do to participate?

 *Thanks to the generosity of  one of our donors, Cure HHT is pleased to offer financial support to offset reasonable travel expenses to Palo Alto, CA for Bevacizumab (Avastin) clinical trial participants who have a documented financial need. Detailed information will be made available by the principal investigator when a participant is enrolled in the clinical trial.