Cystic Fibrosis Breakthrough: Rylee's 'Magic' Pill - NewsChannel5.com | Nashville News, Weather & Sports

Cystic Fibrosis Breakthrough: Rylee's 'Magic' Pill

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DALLAS (Ivanhoe Newswire) - Each year, a thousand children are born with cystic fibrosis. Kids with it are not expected to live past their thirties, but now many could live much longer.

Rylee is a girl on the go. She won't let her disease slow her down.

"I have cystic fibrosis," Rylee, who has cystic fibrosis, told Ivanhoe.

Cystic fibrosis causes the body to produce a thick mucus that clog the lungs and pancreas, making it difficult to clear the lungs and break down food. A child with CF constantly fights infections and to maintain a healthy weight.

"Any kind of plan that we had for the future or dream that we had for our daughter was completely shattered," Amy, Rylee's mom, told Ivanhoe.

A year ago Rylee, was taking 20 pills a day. Now, she's only taking one.

"They're magic pills," Rylee said.

Kalydeco is the first drug that targets the underlying cause of CF, the defective protein called CFTR. In some patients, this protein does not allow fluids to clean the surface of the lungs that can cause deadly infections.

"That infection can fester because it just doesn't move," Carolyn Cannon, MD, Director of the Pediatric Cystic Fibrosis Care and Teaching Center at Children's Medical Center at Dallas, told Ivanhoe.

Kalydeco restores the function of the CFTR protein, clearing out the lungs, and relieving symptoms of the disease.

"It is absolutely a game changer. It changes their life," Dr. Cannon said.

Giving kids like Rylee a chance for a long, healthy life.

"I can dream anything for her now," Amy said.

Not only does Kalydeco take away the symptoms for some kids with cystic fibrosis, doctors believe it might allow them to live decades longer than expected. Kalydeco was recently FDA approved for kids over six. Rylee is using it off-label and is the first child under the age of six to start on it. The drug costs $300,000 a year, but Rylee's insurance pays all but $90 a month.

RESEARCH SUMMARY

BACKGROUND:   Cystic fibrosis is an inherited chronic disease that affects the lungs and digestive system.  About 30,000 children and adults in the United States (70,000 internationally) have it.  Sticky, thick mucus is produced because of a defective gene and its protein product. The sticky mucus clogs the lungs and could lead to life-threatening infections.  Also, it obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food. More than 70% of patients are diagnosed by the age of two.  Before advances in medical treatment, in the 1950s few children lived to go to elementary school.  The median age of survival is now late 30s. (Source: www.cff.org)

SYMPTOMS:  People who have cystic fibrosis can have a mixture of symptoms.  They can include: persistent coughing, salty skin, frequent lung infections, wheezing and shortness of breath, frequent greasy stools, difficulty with bowel movements, and poor growth or weight gain.  (Source: www.cff.org)

TREATMENT:  There is no cure for cystic fibrosis, but treatment can ease symptoms and reduce complications.  Aggressive intervention and close monitoring is always recommended.  Treatments aim to loosening and remove the thick mucus from the lungs, prevent and treat intestinal blockage, prevent and control lung infections, and provide needed nutrition.  Mediations include antibiotics, mucus-thinning drugs, oral pancreatic enzymes (to help the digestive tract absorb nutrients) and bronchodilators.  Chest physical therapy can loosen the mucus.  There are available mechanical devices; such as, the chest clapper, inflatable vest, and breathing devices.  The doctor might recommend pulmonary rehabilitation and can include: nutritional counseling, breathing strategies, exercise training, psychological counseling, and energy conserving techniques.  Also, surgery is another option.  They can include: nasal polyp removal, oxygen therapy, lung transplant, endoscopy, feeding tube, and bowel surgery.  (Source:www.mayoclinic.com)

NEW TECHNOLOGY:  Kalydeco is a new FDA approved oral medication for treating cystic fibrosis in patients six and older.  This is the first dug that targets the cause of cystic fibrosis, the G551D mutation (a mutated gene and its protein product CFTR).  About four percent of people with cystic fibrosis in the United States have the G551D mutation.  The drug used to be called VX-770 and its generic name is ivacaftor.  The pill is taken twice a day.  The drug helps improve lung function and lower sweat chloride levels.  It can also help patients gain weight.  In people with the G551D mutation, the defective protein moves to the right place at the surface. It acts like a locked gate, preventing the proper flow of fluids and salt in and out of the cell.  Kalydeco unlocks that gate and restores the function of the mutated protein.  Allowing the proper flow of fluids and salt, it helps to thin the mucus.  Kalydeco is now available by prescription for people with the G551D mutation ages six and older.  Vertex began clinical trials in 2012 to see if Kalydeco can be taken by children ages two to five with the G551D mutation, people with mutations other than the G551D, and people with at least one copy of the R117H mutation. For more information on obtaining Kalydeco, contact Vertex at 1-877-752-5933 orwww.kalydeco.com.  (Source:http://www.cff.org/treatments/Therapies/Kalydeco/#How_does_Kalydeco_work?) 

INTERVIEW

Carolyn L. Cannon, MD, PhD, Director of the Pediatric Cystic Fibrosis Care and Teaching Center at Children's Medical Center at Dallas, talks about a new breakthrough for cystic fibrosis.

Is there a cure for cystic fibrosis (CF)?

Dr. Cannon: There is currently no cure for CF, but we do have the closest thing. It was recently approved by the FDA, a new drug called Kalydeco.

What's life like right now for kids who don't take Kalydeco?

Dr. Cannon: The CF child has to do several daily pulmonary treatments in order to avoid pulmonary infections, or to at least minimize the effects of pulmonary infections that can occur over their entire lifetime.  It's that issue, recurrent pulmonary infections, that gets the attention of a lung doctor. So, that's why most of the children that have CF see a pulmonologist.

Are these kids are in the hospital a lot?

Dr. Cannon: Yes. The kids are in the hospital a great deal, primarily so that they can receive intravenous antibiotic therapy in order to battle the infection in their lungs.

Their life is usually cut short as well?

Dr. Cannon: Yes. The medium life expectancy in the United States has now reached the upper 30s, but that's still not what you or I might expect as our life expectancy.

So, they're in and out of the hospital and you're basically just treating their symptoms?

Dr. Cannon: Most of the time, we are in fact just treating their symptoms. However, we can actually reconstitute some of the poor function of the CFTR, which stands for cystic fibrosistransmembrane conductance regulator, a protein that doesn't work well in these kids.

Is that what this new drug does?

Dr. Cannon: Yes. This particular drug helps the CFTR protein work better. The primary function of the CFTR is to allow chloride, as in sodium chloride, table salt, to move from inside cells to the outside of the cells where you would like to secrete fluid. For example, there is a small layer of fluid on the lining cells of the airways, which includes the windpipe and smaller sized tubes deeper into the lungs. This fluid layer is very important, because if something comes into the lung that shouldn't be there, there's a little bit of mucus that can pick it up and float like a raft on the fluid. Little hair like projections on the tops of the lining cells will sweep the mucus raft carrying the debris up the airways including the windpipe, so you can cough it out or swallow it. However, if there's no fluid, there's nothing for the mucus to float on. It gets stuck and dries and the bacteria, if that's what happens to be inhaled, will stay and set up an infection. That infection can fester because it just doesn't move.

Does this medication help break up that mucus?

Dr. Cannon:  The medication helps open a gate in the CFTR protein to allow the chloride to go through, which drives the fluid onto the surface of the airway. The fluid hydrates the mucus, and allows it to float again and to move everything that shouldn't be there out of the lung.

Is this the first treatment to actually target the cause of the problem rather than just the symptoms?

Dr. Cannon: Yes. It is also one of the first personal medications. In other words, it only helps a certain number of patients with cystic fibrosis.

Are there any downsides?

Dr. Cannon: The cost is significant and is estimated to be about $25,000 a month. It's required every day and every month for the rest of their life. If you add that up over a year, that's a nice house; I would be happy to live in a "Kalydeco house." So, cost is a major issue. Fortunately for Rylee, her insurance company was gracious enough to allow me to prescribe that medication for her even though she was below the age of approval from the FDA. Her parents only pay ninety dollars ($90) a month. She has had the experience of Kalydeco before she had damage to her lungs. For individuals that have started the "magic pill" at an older age, they may have to do the same therapies also for the rest of their lives. They could still have chronic lung infections that can lead to their demise. So, Rylee is absolutely fortunate that she could start her "magic pill" at such a young age.

Can you tell me why this first FDA approved drug that is specific for CF has an age limit?

Dr. Cannon: Sure. The age limit is six. The reason that the FDA has set the age limit at six is they wanted to see that the drug helped improve lung function and six years old is the youngest child that we can get to do reproducible lung function tests. It requires them to cooperate. As much as we would love for Rylee, as a two-year-old and now, very active three-year-old to cooperate with these lung function tests, it just won't happen. In the studies that convinced the FDA that this drug was useful, lung function improved in individuals that took the drug. The best way to measure lung function is through a task that Rylee would be too young to do. That's the entire reason that the age limit is six. It simply had not been studied in younger ages. We asked her insurance company if they would be willing to cover this medication, based on the data and our intellectual understanding that it should be helpful for her, and they approved it.

Were you surprised?

Dr. Cannon: I was jubilant; it was awesome. I was very surprised, but we always ask and that gives other insurance companies the opportunity to think about the information and decide.

Tell me a little bit about Rylee.

Dr. Cannon:  Rylee was a very energetic two year old when we first started her on Kalydeco.

How was her life before Kalydeco?

Dr. Cannon: Her life before Kalydeco involved many medications and therapies. One of the medications she required was enzyme pills that she would take with her meals in order to help break down the food, so that she could absorb those nutrients. One of the things that happens in cystic fibrosis is that, in addition to too little fluid secretion in the airways, there's too little fluid secretion in the pancreas and you don't flush those enzymes into the intestines where they're supposed to work. So, children with cystic fibrosis could, essentially, starve to death if you do not give them enzyme supplementation. Rylee required enzyme supplementation, which she was doing in order to grow well. She required airway clearance techniques. The airways are these tubes that I mentioned that need to have the fluid on them in order to be able to float the mucus up and out and get things out of the lung that shouldn't be there. If the mucus is stuck, you have to help to mobilize it. She would require nebulized treatments, mist treatments, of different medications and a machine that would actually shake her to move the mucus, so that she could get it up and out. That was a routine that needed to happen every single day. Every meal would require enzymes and every day would require airway clearance techniques.

She calls Kalydeco her "magic pill?"

Dr. Cannon: Yes. Her "magic pill" has changed her routine. We're just learning what it is that she needs and doesn't need and we didn't know that prior to starting Kalydeco. I had had the thought that her pancreas was so damaged by the enzymes staying there and digesting the pancreas itself rather than her food, she wouldn't be able to make enough enzymes to grow. However, all we needed to do once she was on her "magic pill," Kalydeco, was to do the experiment. If she needs enzymes, we would know, because her food will pass right through her if she did not take the enzymes. If she doesn't need enzymes, then she would still continue to grow without them and her stool output would be normal. She stopped her enzymes and she was fine, much to our amazement. She's continued to grow beautifully without them. So then we asked, "Do we need to do the airway clearance?" As a lung doctor, I think airway clearance would be perfect for everyone. It would be great if everyone did airway clearance to help keep particulates out of the lung. I was loath to say "stop." Rylee is very active, however, and the best airway clearance is aerobic activity. She does a lot of that. I don't know that we need to catch her and shake her up, when she is doing that herself running around the house and outdoors. So, we have weaned her back on those therapies, as well. It's very exciting. It really is as if she does not have cystic fibrosis.

Is this going to be the first generation of kids that could have cystic fibrosis, but never know they really have it?

Dr. Cannon: They could never experience the symptoms. It could be simply, "Take your ‘magic pill' and you will not have the symptoms of cystic fibrosis," which is fantastic. They still have the defective genes, though, so their children might need to take Kalydeco, too.

Is it like you're going to wipe out this disease for certain kids?

Dr. Cannon: Exactly. You asked me before, "What is the life expectancy for cystic fibrosis?" For those individuals with gating mutations for whom Kalydeco is the drug of choice, I don't know. It may be what I hope for myself, that is, a hundred. That's what I would love to see.

FOR MORE INFORMATION, PLEASE CONTACT:

Children's Medical Center Dallas, Texas
(214) 456-7000
http://www.childrens.com/

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