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Doorway to a Cure for Cystic Fibrosis

Health & Wellness  (tags: Break throughs, children, Cystic Fibrosis, disease, healthcare, investigation, medicine, research, science, study, treatment )

- 1738 days ago -
A nonprofit is taking a financial gamble on eradicating cystic fibrosis. So far, the odds look good.

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Kit B (276)
Saturday August 17, 2013, 10:36 am
Credit for image of Cystic Fibrosis Ribbon:

For the first time in over a decade, a striking silence fills the Cheevers’ barn-style home in North Andover, Mass. The deep, rumbling cough that plagued sisters Laura, 14, and Cate, 12, every night of their lives, leaving them exhausted and weak, has finally stopped.

Their bodies are almost free of the life-threatening lung infections — requiring hospitalization and harsh organ-pummeling intravenous antibiotics — which end the lives of so many children with cystic fibrosis. Now calories once spent fighting disease add weight on their dainty frames and give them energy to play soccer and dance. “And,” says Rob Cheevers, Laura and Cate’s father, “they don’t taste salty anymore.”

“Yeah, I taste like an average person,” quips Cate, referring to the salty sweat that is a hallmark of the disease.

Laura and Cate are among thousands of Americans who have cystic fibrosis (CF), an inherited disease that clogs the lungs with thick mucus, encouraging chronic infections that eventually kill. Affecting one in every 3,900 births in the U.S., CF is one of the most common genetic disorders known. Yet it afflicts too few people — just 30,000 in America and an estimated 70,000 worldwide — for industry to recoup the enormous cost of developing drugs for the disease.

For Laura and Cate, the outlook has changed. They are beneficiaries of a gamble taken in 2000, when parents and volunteers running the Cystic Fibrosis Foundation (CFF) gave a start-up biotech company more than $40 million to find a cure.

Until that point, the advocacy group, established in 1955, had functioned much like other such groups. Battling a disease that, untreated, stole many of their children before age 5, CFF members compiled patient registries and established treatment centers nationwide. They ran regular fundraisers to develop new drugs, like those that broke up the mucus or delivered aerosolized antibiotics that penetrated deep in the lungs to fight infection. With slow and steady progress, they extended their children’s life spans a decade or more.

Then 13 years ago, in a strategic roll of the dice, the group decided to fund the search for a cure that would target not the symptoms of CF, but the defective protein causing the disease. Urged by desperate parents, the board expanded the traditional nonprofit by launching Cystic Fibrosis Foundation Therapeutics Inc., an independent arm, to spearhead drug discovery.

It used money the Foundation raised to hire companies to develop the drugs and then helped them test those drugs in clinical trials. In return, the Therapeutics arm earned royalties for drugs they co-developed, which were immediately folded into more drug discovery.

Along the way, the Foundation imposed an urgency and focus that a biotech or pharmaceutical company functioning alone could not muster. “We were like a racehorse with blinders on. The goal was getting a medicine to patients. Everything we did, we put it through that lens,” says microbiologist Eric Olson, who leads CF research at Massachusetts-based Vertex Pharmaceuticals, which discovered Cate and Laura’s drug.

Collaboration with the Foundation, where everyone had a personal stake in the outcome, kept Vertex on target. “Nothing is more powerful than when it is your own kid, your brother, your sister, and it keeps focus on getting to something real, even if it takes 20 years.”

Vertex’s first CF drug, called Kalydeco, is a stunning testament to patient power. Participating in a clinical trial in 2010, Laura and Cate were given a drug that entered their cells and fixed the defective protein making them sick. With the protein functioning almost as it would in a healthy person, the girls took back their lives.

Laura and Cate have an especially rare mutation — it causes only 4 percent of CF cases in the U.S. But the success of the transformative drug heralds similar treatments for the rest of the CF community. Vertex has already developed a drug cocktail for patients with the most common CF mutation — responsible for the overwhelming majority of cases — with phase III clinical trials underway.

On the Trail of the CF Gene

Little was known about the cause of cystic fibrosis in the 1970s, when Francis Collins, now head of the National Institutes of Health (NIH), took an interest in the disease. Collins was a resident in internal medicine in 1978 at North Carolina Memorial Hospital in Chapel Hill when he was assigned to care for a 19-year-old nurse just diagnosed with CF. The case was unusual because the disease is typically diagnosed in childhood, yet she clearly met the criteria: Her lungs were being destroyed by thick, sticky mucus that served as a breeding ground for sickening bacterial infections, and she had salty sweat, a function of CF pathophysiology Collins didn’t yet understand.

“It was clear we didn’t know very much,” he says today. CF was variable. At one end of the spectrum, thick mucus derailed the function of the body: It blocked the pancreas from delivering enzymes needed for food digestion and absorption, resulting in malnutrition, and also caused severe lung infections, often killing children by age 5. At the other end was a milder disease with rare infections, few nutritional issues and a normal life span.

By: Bijal P. Trivedi | Discover Magazine |

. (0)
Saturday August 17, 2013, 12:19 pm
Noted & posted

Nancy M (197)
Saturday August 17, 2013, 12:30 pm
Great article and good news. Thanks Kit.

. (0)
Saturday August 17, 2013, 1:12 pm
With research and determination, this will end.

Barbara K (60)
Saturday August 17, 2013, 2:12 pm
It would be so wonderful to cure CF. I hope it can be done and soon. Thanks, my friend.

Yvonne White (229)
Saturday August 17, 2013, 2:32 pm
I have a cousin with 3 kids diagnosed with CF - 2 are doing pretty well, the oldest is in his late 20's now & is hosptalized more often...:( Considering most CF patients didn't live to 20 back a few decades ago, they're already way ahead of the game. But I think there's more CF than we're lead to believe, since I know 5 people with it & I live in a small community.."Yet it afflicts too few people — just 30,000 in America and an estimated 70,000 worldwide — for industry to recoup the enormous cost of developing drugs for the disease."

Nancy M (197)
Saturday August 17, 2013, 4:27 pm
Yes Yvonne, There probably are mutations/variants or CF that are far more minor and thus go undiagnosed.

Sheila D (194)
Saturday August 17, 2013, 4:28 pm
Noted with thanks - so nice to hear good news, especially news that saves so many children.

Laurie H (817)
Saturday August 17, 2013, 7:46 pm
This is great news to hear & I do hope the cure is very soon now!!! Thanks so much Kit!!~

Bryna Pizzo (139)
Saturday August 17, 2013, 9:59 pm
Thank you for the excellent news! I pray they are successful!

JL A (281)
Sunday August 18, 2013, 7:31 am
A beacon of hope and a model to be followed for any group addressing rare disorders.

Tanya W (65)
Sunday August 18, 2013, 8:26 am
Noted fingers crossed Jk.

Past Member (0)
Monday August 19, 2013, 7:17 am
Let us hope and pray for a good result.

Past Member (0)
Monday August 19, 2013, 5:17 pm

Franshisca Dearmas (89)
Tuesday August 20, 2013, 12:34 pm
Noted and signed. TY
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