Miracle Drug for Cystic Fibrosis

Cystic fibrosis is a hereditary disease that causes thick, sticky mucus to build up in the lungs.   Just decades ago, children born with CG would live only into their teens.  Today, the life expectancy has increased to 37 and a new miracle drug is expected to have even better results.

Out of the 25 pills eight-year-old Caleb takes every day for CF, Kalydeco is his favorite.

"So it is very important and very helpful," Caleb Nolan told Ivanhoe.

Kalydeco is the first medication to target the underlying cause of CF, a single protein called CFTR that doesn't work right.

"In the past we've only been able to treat the complications of cystic fibrosis," Dr. Frank J. Accurso, Professor of Pediatrics University of Colorado Denver, School of Medicine and Children's Hospital Colorado, told Ivanhoe.

CFTR doesn't allow fluids to clean the surface of the lungs that can cause deadly infections. 

"The new treatment, Kalydeco, actually makes the protein work better," Dr. Accurso said.

It clears out the lungs, reduces symptoms, and possibly also prevents further damage to the lungs.

Caleb still has to use a machine to shake loose mucus in his lungs, but he's feeling healthier than ever before.  

"To know that we have something that we give him now every day that's changing the way his body feels, correcting the underlying defect, there aren't any words for that," Melissa Nolan, Caleb's mother, told Ivanhoe.

Kalydeco currently is approved only for use by four percent of CF patients with a specific gene mutation. However, the FDA has now fast-tracked Kalydeco-combination-treatments that may help up to 65 percent of cystic fibrosis patients in the near future.

The drug costs $300,000 a year, but almost all insurance companies will help with the cost.


BACKGROUND: Cystic Fibrosis a hereditary disease that affects about 300,000 children and adults in the U.S. This disease is found in the lungs and digestive system and it causes the affected organ to produce unusual sticky, thick mucus. Eventually the mucus causes the lungs to clog and affects the pancreas' ability to absorb and break down food. In earlier years, cystic fibrosis patients could expect to live until they are around 12, but now, medicine has extended lives of these patients all the way until their 40s. (Source: http://www.cff.org/aboutcf/)


CAUSES: Cystic Fibrosis is a hereditary disease that includes a defect in a gene that changes a protein.  This protein performs the movement of regulating salt in and out of cells. The disease is passed down by the child's parent, but the gene has to be in both parents for the child to inherit the disease. If only one copy of the gene is present, the disease will not be passed along to the child, but if their child decides to reproduce, they may have a baby that will have cystic fibrosis. (Source: http://www.mayoclinic.com/health/cystic-fibrosis/DS00287/DSECTION=causes


SYMPTOMS: The signs of having cystic fibrosis vary depending on how severe the disease is. Most symptoms begin during infancy, but others may notice symptoms around adolescence or adulthood. Symptoms may improve or worsen in time, but normal signs of cystic fibrosis include:

·         Feeling out of breath

·         Wheezing

·         Lung infections (Source: http://www.mayoclinic.com/health/cystic fibrosis/DS00287/DSECTION=symptoms)


NEW TECHNOLOGY: A new drug has been fast tracked by the FDA to help cystic fibrosis patients. Kalydeco was recently approved to treat 4 percent of cystic fibrosis patients who have a specific gene mutation. This drug is the key to allowing patients live longer and healthier lives. The fast track program decreases the time of FDA approval and allows patients to receive their medications faster. Kalydeco has helped patients with symptoms such as breathing, wheezing, and the ability to exercise. (Source: http://www.highbeam.com/doc/1G1-329581975.html)

Dr. Frank J. Accurso, Professor of Pediatrics at University of Colorado Denver, School of Medicine and Children's Hospital Colorado, talks about a new medication for patients with cystic fibrosis.

Could you please tell us about this new medication, referred to as a "magic pill," for cystic fibrosis patients?

Dr. Accurso: In the past, we have only been able to treat the complications of cystic fibrosis.  Now, this new pill, Kalydeco, allows us to treat the very basic problem, the defect in cystic fibrosis. This defect stems from one single protein that doesn't work right in many organs of the body.  This protein is called, the CFTR, and when it doesn't work right, there are many complications and that's what we have had to treat it in the past. Kalydeco actually makes the protein work better; so it gets at the basic problem with the CFTR. 

How big of a breakthrough do you think this is?

Dr. Accurso: We all consider it a great breakthrough. It's been terrific for the kids who this benefits.  Remember, it's only about 5% of the population now that actually benefits; they have to have a specific type of cystic fibrosis. 

The medication is effective in just 5% of the people with cystic fibrosis, is that correct?  

Dr. Accurso: That's correct. We are very hopeful that there will be similar treatments for a much larger group of patients with cystic fibrosis; actually very soon within a few years.   

What is cystic fibrosis?

Dr. Accurso: Cystic fibrosis is a condition that affects a number of organs in the body. The most important organ that can be affected is the lung. Inside the lung, there is thick, sticky mucus that leads to infection, and the body's response to infection can destroy the lung over time.

What is the expected lifespan for somebody with cystic fibrosis?

Dr. Accurso: The average life expectancy is around 37 to 40 years. It's been getting better for the last 30 years, but it's still not improving fast enough. 

Will the magic pill have an impact?

Dr. Accurso: We don't know for sure if Kalydeco will change life expectancy, but we all think it will. It has not been out long enough for us to get the data to show that changes life expectancy.

So far it is only taking care of symptoms, is that correct? 

Dr. Accurso: At this point, it is taking care of symptoms, but it's also improving lung function and that's a very, very good sign.  This improvement in lung function has remained steady for a couple of years, so that is another very good sign because most people with cystic fibrosis lose some lung function every year.

Can you talk a little bit about the way in which this new drug was developed?

Dr. Accurso: The drug was developed in acollaboration between the Cystic Fibrosis Foundation and Vertex Pharmaceuticals. I should mention that in order to do this, there was a great deal of preparatory research done in academic laboratories supported by the National Institutes of Health and the Cystic Fibrosis Foundation.  So a toolkit had to be developed in order to allow the development of this drug.  So there are many, many scientists at universities and institutes all across the country who contributed to the development of this toolkit. 

Why wasn't it done sooner?

Dr. Accurso: The gene was really only identified in 1989 and it took about 10 years to develop all of the materials we needed so that this drug could be developed.  So in 1999, they started in earnest looking for a drug that would treat cystic fibrosis, but it took quite a while.

Why don't the pharmaceutical companies want to represent this drug?

Dr. Accurso: One problem with development of a drug in cystic fibrosis is that it represents an orphan disease, meaning that there are only 35,000 people in the country who have cystic fibrosis and drug companies might find it more favorable to treat diseases where there are millions of patients. 

Why is it called an orphan disease?  

Dr. Accurso: It means that the disease does not attract attention because a small number of people are involved.

Was this drug developed with a nonprofit organization?

Dr. Accurso: Yes, it was really the first example venture philanthropy. This is where the Cystic Fibrosis Foundation, made grants to bring industry into finding a new treatment for cystic fibrosis.   

Can you tell us a little bit about our patient?  

Dr. Accurso: Yes, I know Caleb.  He is a very active young person, 8 years old, very articulate, and he has a great family. Caleb was admitted to the hospital a couple of times in the first year of life; he had some of the other symptoms of cystic fibrosis including abdominal pain, and malabsorption of nutrients. Now, with Kalydeco, he seems to be doing much better. 

He has a regimen of therapy that is kind of complicated right?  

Dr. Accurso: Yes he does. He has to do airway secretion clearance a couple of times a day which means either pounding on the chest to help break loose the mucus, or putting a vest on to shake the mucus loose.  He has to do inhalation treatments every day, probably lasting close to 45 minutes or an hour; sometimes twice a day.  He also has to take vitamins because people with cystic fibrosis have trouble with some vitamins. He has to take a pancreatic enzyme replacement every time he eats which is in the form of several capsules.  That's because the pancreas doesn't work right in cystic fibrosis. 

Does he have to take a lot of medication?

Dr. Accurso: Yes, Caleb has to take a lot.

Does that also affect the tips of fingers and toes? 

Dr. Accurso: Yes, it does. For reasons that we don't understand, the capillaries are the little tiny blood vessels and they begin to proliferate; they grow more than they should in the tips of the fingers and the toes.

What are the ramifications of that? 

Dr. Accurso: Fortunately, it's only cosmetic.  There is no problem with use of the fingers.




Elizabeth Whitehead

Media Relations Specialist

Children's Hospital Colorado CF Center

(720) 777-2522