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What the HHT?

A blog for the HHT community

HHT rocked our world

Since birth my husband Josh has known he has HHT. His mother and her five siblings all inherited it from their father (How wild are those odds!). When his mom saw a telangiectasia on his foot, she knew he had inherited it too. At this point HHT, the family believed HHT was just a nose bleeding disease. They had never had any preventative scans done.

Fast forward almost 40 years. Halloween weekend of 2021 our 12 year old daughter was diagnosed with Pulmonary Arterial Hypertension after finding out she was in severe heart failure. After a week of testing and a genetic confirmation, we found out her Pulmonary Hypertension was caused by her HHT (ACVRL1). HHT caused a malformation of the arteries that deliver blood from her heart to her lungs.  Only 1% of people with ACVRL1 have PAH. Again, what crazy odds!

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Access to expert care at CHOP saved Jahier’s life

January 21, 2023 started off like a normal day for 13-year-old Jahier and his mom, Amber. The two had just gone out to eat and did a little shopping afterwards. When they arrived home, Jahier helped carry a few bags inside when suddenly he started to cry. “It wasn’t a normal cry,” Amber recalled. “He started saying he couldn’t feel his legs and said his head was hurting.”

Amber didn’t wait. She rushed him to the local emergency room, which was just a 5-minute drive down the road. By the time they arrived, Jahier couldn’t walk. The team of doctors called for a stroke alert and conducted a brain CT. The first scan looked normal, but Jahier’s condition continued to worsen. A second scan, this time with contrast, revealed a ruptured brain AVM — and the bleed appeared to be spreading.

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Creating hope on Giving Tuesday for our littlest of patients

As a little boy, Liam seemed to feel sick very frequently – far more than his two older brothers.  He’d have a harder time recovering from illness, being sluggish, tired and missing many days from school. Mary, Liam’s mother’s concern started to grow as the pediatrician visits got more and more frequent. For years, she was told the same things – it’s probably allergies, or just a viral infection. But those answers weren’t good enough for Mary. She took him to gastroenterologists, immunologists, requested blood work and more, searching for answers. It would take nearly a decade to finally get an answer, when Liam was 14.

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A major milestone for HHT treatment!

I am reaching out to share the news of a truly momentous milestone for both our organization and our community; the Pazopanib clinical trial has officially launched!

This means Cure HHT is now one of the few patient advocacy organizations in the world that is directly sponsoring a Phase II/III clinical trial of an investigational drug product that we own. I wanted to explain what this means, reflect on how we reached this point, and share why this is so monumental!

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Pazopanib Clinical Trial: Q&A

The Pazopanib clinical trial has launched, and the road to reach this breakthrough milestone has been more involved and hard-fought than many may realize.

Cure HHT is one of the few patient advocacy organizations that not only helps to facilitate and drive research forward but is directly sponsoring a Phase II/III clinical trial of an investigational new drug product which they own. I wanted to take this moment to 1) explain what this means, 2) reflect on how we reached this point, and 3) share more on why it’s monumental for our community.

What is pazopanib?

Currently, there are no FDA-approved drugs to treat HHT. Some patients with HHT are receiving FDA-approved therapies to treat HHT-related bleeding (like Avastin), but these therapies are what we call ‘off-label’, or approved by the FDA to treat another disease that is not HHT.

Pazopanib (pa-zah-pa-nib) is an antiangiogenic therapeutic (works to stop blood vessel growth) that is typically given orally to patients with cancerous tumors. When given off-label at a greatly reduced dose than the chemotherapeutic dose, pazopanib has had positive effects in HHT patients with outcomes like a reduced need for blood transfusion, iron infusion, and a decreased amount of nose and gastrointestinal bleeding.

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