HHT Research Update

5 Cure HHT Grants Fund Research Breakthroughs

Research is the answer to curing HHT, and it is Cure HHT’s highest priority. Our Young Researchers program attracts the best and brightest to HHT research early in their careers, resulting in continued dedication to the cause. Preventing this disease in the next generation means securing breakthroughs now.

Cure HHT was able to award $30,000 grants to the following young scholars with your support. Here is what they have been up to over the last year!

 

Hongyu Tian, PhD with Duke University

Goal: To determine endoglin's role in regulating the biology of vascular smooth muscled cells, the cells responsible for stabilization of blood vessels, during developmental angiogenesis and its relation to HHT.

Update: Using CRISPR technology, the study found important new information about the weakening of blood vessels during development.

Next Steps: The study will expand into mice models and the same steps will then be repeated using HHT cells.

 

Wan Zhu, PhD with the University of California, San Francisco

Goal: To treat brain AVMs in HHT patients through gene therapy using a noninvasive strategy injecting a viral vector into the localized site to bind VEGF and inhibit VEGF pathogenic effects, and to extend this treatment for AVMs in other organs.

Update: The findings of this study have been submitted for publication in the Journal of Stroke. Once the findings are publically presented, more details will be made available.

Next Steps: Testing will continue in mice models to develop a groundbreaking treatment.

 

 

Chadwick Davis, PhD with University of Utah and Recursion Pharmaceuticals

Goal: To discover a known drug to be repurposed to successfully treat HHT by characterizing ENG, ACVRL1 and SMAD4 deficient cell lines using RNAi and identifying known drugs that fully or partially ameliorate the HHT phenoprint.

Update: After analyzing 700 quantified features, a screenable phenotype associated with SMAD4 was identified.

Next Steps: Recursion will perform a drug screen of their entire compound library to search for additional targets in ENG and ACVRL1.

 

Simon Tual-Chalot, PhD with Newcastle University

Goal: To investigate how endothelial endoglin maintains adult vasculature to protect against high output heart failure in mice models as it is associated with HHT.

Update: The study provided new, important discoveries about how mechanism procedures affect heart failure in HHT.

Next Steps: Understanding the relationship between endoglin function and VEGF signaling will be a major focus moving forward.

 

Whitney Wooderchak-Donahue, PhD with University of Utah and ARUP Laboratories

Goal: To identify additional genetic modifiers in HHT to determine if the variability of HHT is caused by mutations in additional genes or genetic modifiers critical to vascular development.

Update: More than 160 samples have been collected from two families with ACVRL1 mutation spanning eight generations, including relatives as distant as 13th degree. The access to distant relatives’ RNA facilitates identification of genetic modifiers that may influence development of AVMs in certain family members.

Next Steps: Select patients will undergo transcriptome sequencing, and data will be compared against controls to identify genetic modifiers of AVMs in HHT. This data will be used to guide subsequent experiments in which RNA will be evaluated and analyzed to identify new genes and genetic modifiers.

*Please note a more detailed report will be made available once each researcher presents or publishes their findings. The good news is four of them will be presenting in June at the HHT International Scientific Conference!*

Get Your Candle for Awareness Month

 

HHT Awareness Month is about shining the lights of compassion, understanding and education on Hereditary Hemorrhagic Telangiectasia. This month is about more than bringing awareness to the disease; we're also honoring all the amazing people, those we cherish in memory and those still with us, who share their light with the world while living with HHT.

We invite you to light your candle on June 23rd, Global HHT Awareness Day, in honor of someone you love with HHT. Share your special candle message on social media through pictures and video using #LigHHTUp and #CureHHT to bring the global Cure HHT community together.

Let’s LigHHT Up the World together!

How It Works:

1) Purchase your candle(s).

2) Cure HHT will mail the candle(s) to you.

3) LigHHT Up the World on June 23rd using #CureHHT and #LigHHTUp.

 

Contact Cathleen Kinnear at [email protected] or 410-357-9932 with any questions.

Take Action: Protect Your Insurance

Take Steps to Block the American Health Care Act in the Senate!

The American Health Care Act (HR 1628) was passed in the House on May 4th, and will now be moving to the Senate for final consideration. This bill would eliminate insurance protections for those with pre-existing conditions - including genetic diseases like HHT.

Cure HHT is banning together with fellow advocacy groups to make sure this bill is voted NO in the Senate.

We need you to join the fight and tell your representatives to vote NO on the AHCA!

The need for action has never been more urgent!

Take Action - Contact Your Representatives

Call, email or write your representatives using this template letter as a guide.


How The AHCA Will Affect You

  • Individual states would be allowed to define “Essential Health Benefits,” meaning many of the basic services covered by the ACA -- such as prescription drugs, maternity care, mental health, emergency services, hospitalization – may no longer be covered.
  • Because annual and lifetime limits apply only to essential health benefits, insurers could put a cap on how much care one receives, but not on how much people owe. Treatment costs for major diseases are incredibly expensive and could easily bankrupt those in need.
  • Because treatments and medications for the HHT community can be very expensive, the elimination of essential health benefits essentially renders meaningless the ACA’s protections against insurance discrimination for those with “pre-existing medical conditions.”
  • Even if you get your health insurance through an employer, the new legislation could dramatically increase your costs while also reducing benefits.

National Volunteer Week


It's our favorite time of the year (besides HHT Awareness Month) - NATIONAL VOLUNTEER WEEK!

That's right, it's a week all about how awesome you and your support for Cure HHT is.

Check back every day for new stories about our stellar volunteers.

 

Cassi Friday

It’s a very real possibility that Cassi Friday’s husband, Anthony, and her 8-month-old daughter, Eleanor, may one day need blood transfusions to combat HHT blood loss. Both have been diagnosed with HHT type 1 and have a family history of transfusion dependency.

To encourage blood donations, which may one day treat her family and already saves the lives of HHT patients every day, Cassi held a blood drive this past March in tribute to Cure HHT.

“There have been several times when my husband has bled so much, I thought we would have to get an emergency transfusion,” Cassi said. “I am the same blood type as my husband and daughter, so I thought giving blood would be a great start.”

Cassi contacted the local Red Cross about getting involved and was invited to be part of a drive already scheduled in her area. Not only did the Friday family attend the event, but they were the faces of it, sharing their HHT story in the event press release and marketing.

“We try to donate to Cure HHT when we have money, but I feel called to be a more active volunteer,” Cassi said. “I’d like to coordinate a blood drive each year to raise HHT awareness.”

Linda DeVizia

You know when your son’s nosebleeds are caused by something more than being a “picker,” said Linda DiVizia, whose son, Jack, was diagnosed with HHT at 5 years old. Thankfully, after seeing a pediatrician and ENT who didn’t know what to do with Jack, Linda took him to a blood specialist who was able to guide her in the right direction.

“After I educated myself through Cure HHT, I had to educate all of Jack’s doctors between MRIs, CAT scans and screenings,” Linda said. “We are lucky - he can live a very normal lifestyle, and I am grateful to have the knowledge I have about this disease.”

Now that Jack is all grown up and headed to college, Linda has recommitted to the Cure HHT mission in a BIG way. In February, she hosted a fundraising Cut-A-Thon along with a pre-party fitness class in honor of her son and to celebrate her 50th birthday. In just 48 hours, she raised $13,000 to find, treat and cure HHT.

Talk about being a cut above (get it…Cut-A-Thon…cut above…).

 

Savanah Schott

Savanah Schott’s first date was not the experience she had been hoping for. Instead, at 16-years-old, she spent the day feeling nervous only to choke when he showed up – literally. Her nose started bleeding, and all of a sudden she coughed up a blood clot.

She was transported to the ER, bleeding from both her nose and mouth. The episode lasted for 45 minutes before doctors had to manually cauterize the epistaxis with silver nitrate sticks.

“Have you ever bled for 45 minutes straight, bleeding so hard it comes out both nostrils and down your throat,” Savanah asked. “Nearly filled a sink up with your own blood? It’s awful.”

Now, at 24-years-old, Savanah is a legislative force of nature on the Cure HHT advocacy team. She has attended Rare Disease Week in D.C. and met personally with a number of representatives regarding HHT awareness, including Representative Dave Loebsack, who agreed to co-sponsor the HHT DATA Act.

“If you don’t educate others and advocate for your disease, it’s just going to spiral,” Savanah said. “It’s our responsibility to increase awareness.”

Sam Guyette

Nurses are the first people you talk to when going to the doctor or emergency room, said HHT patient Samuel Guyette, making it all the more important for them to know what HHT is.

A retired member of the U.S. Navy, Sam started proctoring nurse placement tests four years ago at Lake Land College in Illinois. Before starting every exam, he takes a few minutes to educate the students about HHT.

“I have been thanked by more medical people for giving them the info than I can count,” Sam said. “One of my former students is actually a Nurse at Barnes Jewish (WUSTL), so I can safely say I have at least helped one nurse with knowledge about HHT.”

Sam has spoken about HHT to more than 500 nursing students over the years, educating them on the symptoms of HHT and sharing his personal story. The only way HHT awareness is going to grow is if HHT patients aren’t afraid to talk about it and turn experiences that may seem negative into educational opportunities, Sam said.

“I know I might bleed suddenly and I accept it. There is nothing I can do except to explain what is happening,” said Sam, who was diagnosed 37 years after spots began appearing on his lips in 1967. “Always look for an opening in discussion to explain HHT.”

Jennifer Urbanek

A year before Jennifer was set to marry her fiancé, Barry, he had a stroke during surgery to remove a brain AVM, paralyzing him on the right side. After a year of intensive therapy, and a whole lot of loving support, Barry was able to walk down the aisle and marry Jennifer.

A year and a half later, they had a beautiful baby girl named Skye who would eventually become an amazing competitive swimmer, despite being diagnosed with HHT herself.

Jennifer has remained a pillar of support for her family through their HHT experience, but also for the Cure HHT organization, dedicating huge amounts of time over the years to raise funds to find, treat and cure HHT. She has been involved with Night of Hope since it began in 2012 along with multiple legislative letter writing campaigns.

“If we have funding to do additional research, we may have a shot at doing some type of gene therapy that could find a cure,” Jennifer said. “Knowing we aren't alone in this battle has been massively comforting.”

Cure HHT was thrilled to award Jennifer the 2017 Trish Linke Award.

Qadri and Doreen Skipper

In 2013, Doreen Blair Skipper began petitioning the New York City Council to rename a street after her beloved son and HHT champion, Qadri Skipper. Her dream was realized last June when she was joined by friends and family to honor Qadri’s memory.

"This was not only a testament of his character, I wanted to express our gratitude for all who partook in his care,” Doreen said of the ceremony which renamed a portion of 110th Street in Queens.

Qadri lost his battle with HHT and Pulmonary Hypertension at the age of 17 in 2012, but not before touching the community around him with his unending optimism, enthusiasm for life and dedication to learning.

He’s also remembered by students at his high school during a yearly scholarship ceremony, where five awards are given in his memory, and by fellow patients who attribute Qadri as the reason they are still alive.

Doreen said she will continue to share “Qadri’s Way” as she moves forward, spreading awareness of HHT and PH to provide the comfort and support that Qadri gave to all he came in contact with.

“I hope when ‘Qadri's Way’ is Googled, it will shed light and awareness on PH and HHT,” Doreen said. “It's not just a nosebleed."

Hetts Receives Young Clinician Award

 

Dr. Steven Hetts

Co-Director of University of California at San Francisco HHT Center

Associate Professor in Residence of Radiology and Biomedical Engineering

"The care I provide for patients with HHT is inspiring to me and a highlight of my career. An award associated with a true pioneer in the field of HHT is humbling and deeply meaningful to me."

Cure HHT is honored to present the Robert I White Jr. Young Clinician Award to Dr. Steve Hetts, a driven, intelligent asset to the HHT medical team. Not only was he instrumental in starting the HHT Center of Excellence at UCSF, he has continued to educate the HHT community as a whole at family conferences as well as the medical community at HHT-related seminars.

When he's not in the doctor's office, he can be found in the lab, developing novel image-guided endovascular devices and techniques for the treatment of stroke, tumors, vascular malformations  and other conditions accessible through the blood vessels or skin.

He has been the principal investigator on an NIH-sponsored project to develop remote-controlled endovascular catheters for use in interventional MRI. This could revolutionize outside stroke treatment, allowing doctors to visualize living versus dead brain tissue in real-time during their surgeries!

"He lit the spark and aided by his creativity, perseverance and serious academic interest in vascular malformations, he helped focus a large quorum of passionate individuals at UCSF who want to make HHT a disease of the past. And, he made it look easy."

- Dr. Miles Conrad, Co-Director UCSF

"Dr. Hetts brings a dedicated passion to his treatment of HHT patients and participation in the Cure HHT mission. He is always invigorating peers and mentees in various projects, championing ideas and following through. We are lucky to have him on our team!"

- Marianne Clancy, Executive Director Cure HHT

Cure HHT Needs You!

Top 5 Ways Your Donation Matters

#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

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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

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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

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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.

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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.

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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