Big/small pharma gives second chance at life to cystic fibrosis patient

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Hailey Mann
IMAGE SOURCEHAILEY MANN
image captionMore power to your elbow: Hailey Mann says she is now living life to the full
A 25-year-old Aberdeenshire woman has said she is now living rather than just existing, one year after getting a delayed cystic fibrosis drug.
Hailey Mann, from Westhill, had been advised to make end-of-life preparations as her condition worsened.
She said there were "tears of joy" when the drug was approved for her to start using last year.
The beauty therapist said her life had been transformed and she was now living it to the full.
Ms Mann said at the time that an agreement had been made with the pharmaceutical company which manufactures Kaftrio to make the medicine available to her on compassionate grounds.
The licensing of the drug in Scotland had been delayed by the Covid-19 pandemic, but was then approved for use.
 
"I feel like I've been given a second chance at life."
Hailey Mann
image captionHailey Mann spoke last year when she got the good news
Ms Mann said she tries to do something every day to to make the most of things "because you don't know what's around the corner".
She explained: "Even with the pandemic I've been able to do so much more in this last year. The difference is unreal.
"I'm back to work, working from home. I love my job. In between all that, trying to do things all the time. Even just little things like going to the park with my little sister. Something as little as that I would have never been able to do before.

"I'm climbing up and down the stairs which were like a mountain beforehand. I don't require any oxygen anymore and just not having to depend on anybody. It's a complete U-turn."
Hailey Mann
IMAGE SOURCEHAILEY MANN
image captionThe 25-year-old says she tries to do something every day
She added: "I think last year when I was so ill, it just feels like a blur. I wasn't myself. I'm usually full of energy and doing things and usually quite positive. Last year was hard. I'd almost lost sight of all that. I'm now back to my old self."
She said she had stayed in touch with a transplant team and that they were happy with her progress, with her lung function going up and stabilising.
"So they're just keeping me on their radar so if there was to ever be any issues, they know who I am and where I'm at, but for now I'm happy with where I am," she said.
"Just to try and live everyday like it's your last. I'm hoping to go to Mexico with the family. That's our ultimate holiday destination."
The European Medicines Agency (EMA) allows for use of "unauthorised medicine" that has not yet been licensed under "compassionate use programmes".

Cystic fibrosis affects hundreds of people in Scotland.
 
ginfreely said:
She told BBC Scotland: "It's been a rollercoaster year, but a much better one than I was on before. It's a complete 360.
"The amount of energy, the amount of things I'm doing - before Kaftrio I was just existing as opposed to living. Now I'm living. It's a totally different life.
Click to expand...

https://www.businesswire.com/news/home/20210428005529/en/Vertex-Announces-European-Commission-Approval-for-KAFTRIO®-ivacaftortezacaftorelexacaftor-in-Combination-With-Ivacaftor-to-Treat-Cystic-Fibrosis-Patients-12-Years-and-Older-With-At-Least-One-F508del-Mutation-in-the-CFTR-gene

Vertex Announces European Commission Approval for KAFTRIO®(ivacaftor/tezacaftor/elexacaftor) in Combination With Ivacaftor to Treat Cystic Fibrosis Patients 12 Years and Older With At Least One F508del Mutation in the CFTR gene​

- New indication includes people ages 12 years and older who have one copy of the F508del mutation regardless of the other mutation type -
- People with gating (F/G) or residual function (F/RF) mutations now eligible for the triple combination therapy -
April 28, 2021 07:30 AM Eastern Daylight Time
 
ginfreely said:
https://www.zacks.com/commentary/1775626/bull-of-the-day-vertex-pharmaceuticals-vrtx


Bull of the Day: Vertex Pharmaceuticals (VRTX)​

Kevin CookAugust 06, 2021
Click to expand...
Vertex Pharmaceuticals (VRTX - Free Report) is the $52 billion hero of tens of thousands of families facing the cruel childhood disease of cystic fibrosis.

Cystic fibrosis (CF) is an inherited disorder of the body's mucus glands that causes severe damage to the lungs, digestive system and other organs in the body. CF affects the cells that produce mucus, sweat and digestive juices.

These secreted fluids are normally thin and slippery, but CF causes these fluids to become thick and sticky. They then plug up tubes, ducts, and passageways, often causing repeated lung infections.




CF is a chronic, progressive, and frequently fatal genetic diseased caused when a child has inherited two copies of the defective CF gene, one copy from each parent. Both parents must have at least one copy of the defective gene. People with only one copy of the defective CF gene are called carriers, but they do not have the disease.
 
Diving Deeper to Understand the Genetic Roots

Before we learn more about Vertex and its treatments, I want to share more interesting background on the science surrounding CF.

I became more interested in the disease when I read about the work of scientists in Carl Zimmer's 2008 book Microcosm. Zimmer told the story of research into the capability of animal bodies to be their own natural pharmacy by creating antimicrobial peptides, which are part of the innate immune system including skin and the linings of our respiratory and digestive systems.


During the COVID-19 pandemic, we are all learning about the acquired, or adaptive, immune system as vaccines can teach our body's interior and circulatory cells to fight viral infection. But we take for granted the front-lines of defense in our respiratory and digestive linings, whose soldiers include mucus-generating cells to protect us with natural barriers that can trap bacteria and viruses.

CF patients can never take their innate immune system barriers for granted. In Zimmer's book, he hypothesized at the time that CF may be due in part to mutations that disable genes for antimicrobial peptides produced in the lungs. But what actually causes the lungs to become loaded with bacteria and swell with fluid?

Scientists now know that CF is caused by many possible mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. There are around 2,000 identified mutations in the gene, and 127 of these are currently known to cause CF.
 
If the CFTR gene has a defect, it can create CFTR proteins within cells that don’t open correctly or don’t get to the cell surface, where they are normally positioned, to let chloride ions flow freely into or out of the cells as they should. This leads to an imbalance of salt and water and this causes the thick, sticky mucus in the lungs.

You can think of the CFTR protein as a channel on the surface of a mucus cell that allows chloride ions to flow in and out. Scientists believe that gateways on either end of the protein channel don't open properly or stay open long enough to effectively let chloride ions have passage.

CF lung disease eventually worsens to the point where the person is disabled. Today, the average life span for people with CF who live to adulthood is about 44 years. Death is most often caused by lung complications and many can die in their 20s.
 
Vertex Leads with CF Treatment

While there is no cure yet for this genetic disease, Vertex has several drug treatments approved by the FDA for daily use that help the CFTR protein gates and channels to stay open longer and allow the passage of chloride ions. Since there are multiple CFTR mutations that cause CF, the company has developed a unique arsenal of treatments for a handful of them across different ages of patients and disease progression.

In 2012, Vertex gained FDA approval of the first drug, Kalydeco, to treat the underlying cause of cystic fibrosis rather than the symptoms, in patients 6 years or older who have the G551D gene mutation. Since then, the scientific innovation has been powerful for CF patients and their families.

The company’s lead marketed products are Trikafta, Symdeko/Symkevi, Orkambi and Kalydeco, which are collectively approved to treat around half of the 83,000 people with CF in North America, Europe and Australia. Trikafta, Vertex’s triple combination regimen, was approved by the FDA in October 2019 for the treatment of CF in people aged 12 years and older who have at least one F508del mutation.

Kaftrio (brand name of Trikafta in EU) was approved in the European Union in August 2020. Trikafta is also being evaluated in younger patients in the United States. With approval of Trikafta/Kaftrio, Vertex can address a significantly larger CF patient population -- almost 90% of patients with CF -- in the future.
 
While CF remains the main area of focus, Vertex is also developing treatments for sickle cell disease and beta-thalassemia with its partner CRISPR Therapeutics (CRSP - Free Report) .

Vertex is projected to grow revenues this year to $7.25 billion, representing a 17% advance. And next year's consensus among analysts is nearly $8 billion for a 10% rise.

After its July 29 quarterly report where the company offered an improved outlook for sales and profits, analysts have raised EPS estimates significantly, thus making Vertex a Zacks #1 Rank. In just the past week, this year's EPS consensus rose 9.5% $12.28, representing 19% profit growth.
 
ginfreely said:
https://www.businesswire.com/news/home/20210428005529/en/Vertex-Announces-European-Commission-Approval-for-KAFTRIO®-ivacaftortezacaftorelexacaftor-in-Combination-With-Ivacaftor-to-Treat-Cystic-Fibrosis-Patients-12-Years-and-Older-With-At-Least-One-F508del-Mutation-in-the-CFTR-gene

Vertex Announces European Commission Approval for KAFTRIO®(ivacaftor/tezacaftor/elexacaftor) in Combination With Ivacaftor to Treat Cystic Fibrosis Patients 12 Years and Older With At Least One F508del Mutation in the CFTR gene​

- New indication includes people ages 12 years and older who have one copy of the F508del mutation regardless of the other mutation type -
- People with gating (F/G) or residual function (F/RF) mutations now eligible for the triple combination therapy -
April 28, 2021 07:30 AM Eastern Daylight Time
Click to expand...
About Cystic Fibrosis

Cystic Fibrosis (CF) is a rare, life-shortening genetic disease affecting more than 80,000 people globally.1CF is a progressive, multi-system disease that affects the lungs, liver, gastrointestinal (GI) tract, sinuses, sweat glands, pancreas and reproductive tract. CF is caused by a defective and/or missing CFTR protein resulting from certain mutations in the CFTR gene. Children must inherit two defective CFTR genes — one from each parent — to have CF. While there are many different types of CFTR mutations that can cause the disease, the vast majority of all people with CF have at least one F508del mutation. These mutations, which can be determined by a genetic test, or genotyping test, lead to CF by creating non-working and/or too few CFTR proteins at the cell surface. The defective function and/or absence of CFTR protein results in poor flow of salt and water into and out of the cells in a number of organs. In the lungs, this leads to the buildup of abnormally thick, sticky mucus that can cause chronic lung infections and progressive lung damage in many patients that eventually leads to death. The median age of death is in the early 30s.
 
About KAFTRIO®(ivacaftor/tezacaftor/elexacaftor) in a Combination With Ivacaftor

KAFTRIO® (ivacaftor/tezacaftor/elexacaftor) in a combination regimen with ivacaftor 150 mg was developed for the treatment of cystic fibrosis (CF) in patients ages 12 years and older who have at least one copy of the F508del mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Ivacaftor/tezacaftor/elexacaftor is designed to increase the quantity and function of the F508del-CFTR protein at the cell surface. The latest approved EU licensed indication for ivacaftor/tezacaftor/elexacaftor was supported by positive results of three global Phase 3 studies in people ages 12 years and older with CF: a 24-week Phase 3 study (Study 445-102) in 403 people with one F508del mutation and one minimal function mutation (F/MF), a four-week Phase 3 study (Study 445-103) in 107 people with two F508del mutations (F/F), and a Phase 3 study (Study 445-104) in 258 people heterozygous for the F508del-CFTR mutation and a CFTR gating mutation (F/G) or a residual function mutation (F/RF).2

For complete product information, please see the Summary of Product Characteristics that can be found on www.ema.europa.eu.
 
About Vertex

Vertex is a global biotechnology company that invests in scientific innovation to create transformative medicines for people with serious diseases. The company has multiple approved medicines that treat the underlying cause of cystic fibrosis (CF) — a rare, life-threatening genetic disease — and has several ongoing clinical and research programs in CF. Beyond CF, Vertex has a robust pipeline of investigational small molecule medicines in other serious diseases where it has deep insight into causal human biology, including pain, alpha-1 antitrypsin deficiency and APOL1-mediated kidney diseases. In addition, Vertex has a rapidly expanding pipeline of cell and genetic therapies for diseases such as sickle cell disease, beta thalassemia, Duchenne muscular dystrophy and type 1 diabetes mellitus.

Founded in 1989 in Cambridge, Mass., Vertex's global headquarters is now located in Boston's Innovation District and its international headquarters is in London. Additionally, the company has research and development sites and commercial offices in North America, Europe, Australia and Latin America. Vertex is consistently recognized as one of the industry's top places to work, including 11 consecutive years on Science magazine's Top Employers list and a best place to work for LGBTQ equality by the Human Rights Campaign.
 
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