Cure HHT Needs You!

Top 5 Ways Your Donation Matters

HHT Maryland Golf Open

Dust off those clubs and get ready for a good time!

Cure HHT is planning its first hometown event and we want you to be part of the fun.

.

May 12, 2017

Greystone Golf Course, White Hall, MD

.

Click here to get 15% off for EARLY BIRD foursome registration until March 17th!

.

Registration Includes...

Boxed Lunch       Open Bar

Raffles       18 Holes       $25,000 Hole in One 

Massages    BBQ Dinner   Award Ceremony   Auction

.

*All proceeds go toward critical Cure HHT programs to support education and research programs for the treatment of Hereditary Hemorrhagic Telangiectasia.*

.

To become a sponsor or donate an auction item, contact [email protected].

Year in Review

 

#HHTFamCon 2016

More than 200 people attended the HHT National Patient and Family Conference in Boston, representing seven countries with people traveling from as far as Sweden, Japan, England and Australia. They attended more than 20 educational sessions led by experts in HHT treatment and research during the three-day event. Together, they generously raised more than $75,000 toward the Cure HHT mission.

But the 18th HHT National Patient and Family Conference was so much more than a listing of numbers. It was a whole weekend dedicated to connecting the different parts of our HHT community – bringing researchers, doctors and patients together to continue toward a HHT-free future.

Patients were able to chat one-on-one with doctors over breakfast; researchers volleyed theories during the poster sessions to improve projects; young scholars sat with mentors between session discussing HHT science; and kids with HHT met others their age for the first time.

Thank you for making the 2016 #HHTFamCon one of the best Cure HHT conferences. We can’t wait to do it again in two years! Click here to see the top 100 photos from #HHTFamCon.

Conference Breakthroughs

HHT Mobile App – A team from University of Michigan is working to develop an interactive mobile HHT app that includes education resources, patient checklist for appointments and test results, self-monitoring, customized notifications and patient-provider communication.

Beyond Avastin - Clinical and basic science researchers are looking at a variety of FDA approved drugs (anti-inflammatory and MTOR inhibitors) to be repurposed for use in HHT to keep AVMs from developing or reversing AVMs that already exist.

Cancer & HHT- Patients with HHT and certain kinds of cancer show slower onset and progression of the cancer and better survival outcome due to the inability of their tumors to vascularize and grow. The survival benefit of HHT status across multiple cancer may present a new therapeutic line of investigation for these cancers.

Available for Purchase

img_7352

img_7257

img_7495

img_7534

img_7827

Special Thanks To:

Silver Sponsors: Burroughs Wellcome Fund, Olitsky Family Foundation
Bronze Sponsors: Actelion, B. Braun CeGaT, Cook Medical, Massachusetts General Hospital, NewYork-Presbyterian/Columbia University Irving Medical Center, Silber and Weissel Families
HHT Center of Excellence Sponsors: ARUP Laboratories, Cincinnati Children’s Medical Center, Yale University
Unique Program Sponsors: Anonymous Donor Family, Nancy Padgett
Exhibitors: Actelion, Bon-nare, Invitae, Medtronic, Stanford Medicine
Give Aways: BleedCEASE, Massachusetts General Hospital
Scholarship Fund Donors: This support allowed seven adults and three children to attend.
Volunteers: Charles Bukauskas, Angela Carlisle-Brown, Brittney Conger, Lindsey Conger, Sam Current, Art Gutkowski, Frank Linke, Marijo McCune, Jody Nissan, Annette Sercombe and Roz Youngert

Scientific Conference Registration

logo-hht_12th_scientific_conference

Get Early Bird Prices While They Last!

Discounted Hotel Rates Available:

Single Occupancy €179
Double Occupancy €189

Early Bird Registration Expires
April 15:

Save $75 on registration costs!

Advances in HHT treatment and therapies are impossible without the collaboration of researchers and clinicians like you.

Join us at the largest scientific HHT meeting in the world!

This is your chance to be part of major breakthroughs inspired by cross-disciplinary presentations and discussions at the HHT International Scientific Conference.

Dates: June 8-11, 2017 (June 7th Welcome Reception)
Book Your Hotel Now: Radisson Blue Resort & Spa, Dubrovnik Sun Gardens, Croatia

Agenda         Pricing        Hotel

Have questions? Contact Nicole Schaefer at [email protected] or 410-357-9932.

 

Cure HHT Launches 25th Center in 25 Years

cin-childrens

Cincinnati HHT Center of Excellence

Cincinnati Children's Hospital and University of Cincinnati Medical Center

Medical Director: Adrienne Hammill, MD, PhD
Associate Director: Manish Patel, DO
Patient Coordinator: Melissa Morris
Make an Appointment: 513-636-2084

“This new center is an expert clinical and research center that has true compassion for HHT patients as well as the comprehensive care necessary to treat the disease,” said Cure HHT Executive Director Marianne Clancy. “We are very excited to have them as part of our treatment network and partners in research.”

The Cure HHT organization is celebrating 25 years of research, advocacy, education and awareness with the launch of its 25th HHT Center of Excellence. The Cincinnati HHT Center of Excellence includes specialists from Cincinnati Children’s Hospital and University of Cincinnati Medical Center to provide complete care for HHT patients of all ages.

The Cincinnati team, led by Dr. Adrienne M. Hammill, is equipped to offer all-inclusive level of care for those with HHT, from initial evaluation, diagnosis and genetic testing to the development of a treatment plan and management of that plan. The adult and pediatric interventional teams work in tandem to provide for seamless care across the lifespan, with particular expertise in treating children with brain and lung AVMs.

 cchmc_rgb_digital

 

cin-uni

Following an initial evaluation, the HHT team will develop a comprehensive treatment plan with the family.  Our adult and pediatric interventional teams work in tandem to provide comprehensive care for patients across the lifespan, with particular expertise in treating children with brain and lung AVMs.

adrienne-hammill

 

Dr. Adrienne Hammill is trained in pediatrics and hematology/oncology with an interest in bringing new medical therapy options to the treatment of vascular anomalies. She specializes in vascular malformations affecting the brain through her collaboration with the Cerebrovascular Clinic housed in Neurosurgery, and has worked tirelessly to bring a HHT Center of Excellence to Cincinnati. She currently serves as Medical Director of the Hemangioma and Vascular Malformations Center. Dr. Hammill earned her MD and PhD degrees at the University of Texas Southwestern Medical Center and completed her residency and fellowship at Cincinnati Children’s Hospital Medical Center.

Specialties at the Cincinnati HHT Center of Excellence

Cardiology        Dentist/Oral Surgeon        Dermatology        Genetics/Genetic Counseling        Gastroenterology
Hematology        Interventional Radiology        Neurology        Neurointerventional Radiology        Neuroradiology
Neurosurgery        Oncology        Otolaryngology (ENT)        Pulmonology

NOSE Study Results Are In!

 

PUBLICATION: Journal of American Medical Association; JAMA. 2016;316(9):943-951. doi:10.1001/jama.2016.11724

 

We are very pleased to report the first multi-center clinical study on nosebleed treatment has been published and released in the Journal of American Medical Association: “Effect of Topical Intranasal Therapy on Epistaxis Frequency in Patients with Hereditary Hemorrhagic Telangiectasia a Randomized Clinical Trial” on September 6, 2016.

This is the first randomized double blind placebo controlled Phase II Clinical trial ever documented! This study has propelled other studies forward, such as the Avastin Epistaxis study at Stanford University and the Paznopanib trial with Glaxo Smith Kline Pharmaceutical Company.

Results

120 patients received topical therapy of either Avastin 1% (4mg/d), Estriol 0.1% (0.4mg/d), Tranexamic acid 10% (40mg/d) or placebo (0.9% saline) for 12 weeks to assess the risks and benefits for treatment of moderate to severe nose bleeding. As you know all too well, interventional techniques such as laser and cautery have provided temporary help, but the need for better therapeutic approaches in managing nosebleeds is desperately needed.

The study showed treatment with topical therapy is safe, well tolerated and improves nosebleed severity in most patients. Though the study didn’t show any impact on nosebleed frequency, patients on Avastin showed a borderline reduction in nosebleed duration in comparison with the tranexamic acid and placebo over the 24 weeks.

Variables

As HHT patients do not routinely irrigate the nose prior to the administration of drug therapies (which might improve absorption of medication), we do not know if this procedure impacted the results. Additionally, it may be that a higher concentration of the Avastin (bevacizamab) could have produced greater improvement.

Conclusion

This study concluded simple treatment with nasal saline spray twice daily is beneficial to many patients. The addition of tranexamic acid, estriol or bevacizumab does not seem to offer significant advantage over plain saline. However, if you are currently using one of these medicated sprays, do not discontinue before speaking with your doctor.

GOSSAGE SIGNATURE FOR LETTER

 

 

James Gossage

Medical Director

Marianne Clancy signature

 

 

Marianne Clancy

Executive Director

 

Cure HHT Launches New York Center

New Center Hospital Photo

24th HHT Center of Excellence in North America

NewYork Presbyterian/Columbia University Medical Center

New York, NY

“Two years ago, we made a commitment to New York and New Jersey families that we would work very hard to encourage a team of experienced physicians, with our guidance and a HHT mentor center, to come together as an HHT Center of Excellence,” said Executive Director Marianne Clancy. “I am so happy to see this work become a reality. I am confident this superb team, which I met during a site visit, will provide outstanding care. We look forward to working closely together in the years to come."

nyc

NewYork Presbyterian/Columbia University Medical Center is the only facility in New York that specializes in the diagnosis, evaluation and treatment of HHT. The newest HHT Center offers compassionate, family-centered multidisciplinary care, led by Dr. Sophie Chheang, a dynamic and action-oriented physician. At the NewYork Presbyterian/Columbia University HHT Center, each patient is treated by HHT-knowledgeable physicians who are compassionate and devoted to maintaining the highest standards of care. Dr. Chheang’s team includes a full team of pediatric specialists lead by Dr. Emilio Arteaga-Solis.

Chheang, Sophie MDDr.Chheang is a board certified radiologist at NewYork Presbyterian and an assistant professor of radiology at Columbia University Medical Center. After graduating from the New York University School of Medicine, she completed her Diagnostic Radiology residency at the University of California, Los Angeles. Dr. Chheang then finished her Interventional Radiology fellowship at NewYork-Presbyterian/Weill Cornell Medical Center,which included additional training at the Memorial Sloan Kettering Cancer Center.In addition to English, Dr.Chheang speaks Khmer and Spanish. She is Board certified with the American Board of Radiology.

 

Specialties at NewYork Presbyterian/Columbia University HHT Center

Cardiology

Dermatology

Genetics/Genetic Counseling

Gastroenterology

Hematology

Interventional Radiology

Neuro-interventional Surgery

Neurosurgery

Otolaryngology (ENT)

Pediatrics

Pulmonology

 

To Make an Appointment

Adult Appointment: Contact Helen Pena-Chacon at 212-305-7094

Pediatric Appointment: Contact Emilio Arteaga-Solis, MD, PhD at 212-305-5122

Partnerships Lead to Stronger HHT Awareness

It can be hard to feel heard as a patient with HHT, but when you meet a team of doctors who understand what you need, things begin to fall into place. The same is true for Cure HHT – though we are a strong advocating voice, it helps to have a team that backs us up to affect change. Each partnership opens the door to further educate the medical professionals who, in turn, end up on your team.

SIRLOGO

Partner: Society of Interventional Radiology is a national organization of physicians, scientists and allied health professionals dedicated to improving public health through disease management and minimally invasive, image-guided therapeutic interventions.

Benefits: This partnership has resulted in the designation of the National HHT Patient & Family Conference for a maximum of 18.5 AMA PRA Category 1 CreditsTM in continuing medical education, drawing physicians from outside the HHT community to learn about the disease.

Partner: For more than 30 years National Organization for Rare Disorders has been a leader in voicing the needs of the rare disease community, driving policies, advancing medical research and providing patient and family services.

Benefits: NORD hosted HHT patient representatives at the American Medical Student Association meeting and two-day NORD Summit conference. Cure HHT has also been incorporated into outreach programs and Global Rare Disease Day.

genetic alliance

Partner: Genetic Alliance includes more than 1,200 disease-specific advocacy organizations, as well as thousands of universities, private companies, government agencies and public policy organizations. They apply solutions in health and disease, practice and prevention on the local and global level.

Benefits: Genetic Alliance provided IRB approval for Cure HHT to recruit for the NIH Brain AVM Study and provides Cure HHT with access to a professional discussion forum, disease info research database and seminars related to the rare disease community.

CIBR logo

Partner: Coalition for Imaging and BioEngineering Research has more than 180 members, including 99 patient advocacy groups representing the full spectrum of diseases that use imaging for detection, diagnosis and treatment. They educate the public about imaging research and advocate for federal support.

Benefits: Cure HHT attended the CIBR Medical Technology Showcase on Capitol Hill to educate the radiology community about HHT. Cure HHT has also been featured in the CIBR blog, newsletter and social media feeds to educate professionals on recognizing HHT.

 

HHT Research: It’s in the Genes

Whitney Wooderchak-Donahue 1

Young Researcher Works to Discover New HHT Genes

Whitney Wooderchak-Donahue, PhD, said she couldn’t help but jump around her office when she received the $30,000 Cure HHT Young Research Scholar Award. Having studied the molecular genetics of HHT for more than 10 years, it was a dream come true to receive a seed grant to further her research. Almost a year later, Whitney’s results are awaiting publication and she’s thrilled to use those findings to leverage federal funding to expand the project.

 

Q: What motivated you to apply for the Cure HHT Young Research Program?

A: I really want to find an answer for families in which we don’t know why they have HHT. Research is like a roller coaster - One day you think you’ve found a new variant that causes HHT and the next you find that same variant in a control sample. We will get there though. I’m determined!

Q: What is the goal of your Cure HHT project?

A: To discover additional HHT genes and genetic modifiers using the latest, most advanced genetic technologies. We hypothesize that the clinical variability observed in HHT patients, like multiple AVMs and severe nosebleeds versus no AVMs and few nosebleeds in individuals from the same family, is caused by mutations in additional genes and genetic modifiers critical for vascular development.

Q: What are your next steps?

A: In one year, we have collected about 100 cases with a known ENG or ACVRL1 mutation, many of whom are from two large extended Utah pedigrees with an ACVRL1 mutation. We are currently analyzing the results from our transcriptome experiments and plan to use data from this small study to apply for larger federally funded grants later this year.

Q: Will you continue to focus on HHT moving forward?

A: My future work will focus on understanding the molecular genetics of HHT and other vascular malformation syndromes to improve the understanding and molecular diagnostics of these disorders so more families can have an answer. We all have one goal in mind - to help patients with HHT.