Here & Now

Breakthrough Drug Gives Hope to Cystic Fibrosis Patients

Frederica Freyberg:

In tonight’s look ahead, it’s not a cure per se but proving to be life changing. A new breakthrough drug combination is offering hope to patients living with cystic fibrosis, a pulmonary disease impacting 30,000 people in the United States. Cystic fibrosis can cause severe lung damage, difficulty breathing, and early death due to thick, sticky mucous in the airways. There is no cure for the inherited disease but thanks to teams of researchers at the UW and across the country, the new trial drug therapy is targeting the root cause of the disease and showing amazing results. In a moment, we will hear from one patient showing such improvement in her condition. But first, we turn to Dr. Andrew Braun who led UW’s participation in the phase three trials of this medication prior to FDA approval. He’s the director of the UW Adult Cystic Fibrosis Program and thank you for being here.

Andrew Braun:

Thank you for inviting me.

Frederica Freyberg:

How important is this breakthrough?

Andrew Braun:

This is a momentous therapy for people with cystic fibrosis. Right now and for the last 30 to 40 years, we’ve really been treating the symptoms of the disease. This new medication targets the underlying genetic defect and we are already seeing quite amazing results for people who have been able to access the medication.

Frederica Freyberg:

What was your initial reaction when you saw those kinds of results?

Andrew Braun:

It is something that we have never seen in cystic fibrosis. This medication will be adding likely years of life to people with CF and really impacting their quality of life. Currently most people spend two to three hours a day doing multiple inhaled respiratory therapies and aggressive chest physical therapies. This medication, which is a pill that they will take once in the morning and once in the evening, will likely impact that quality of life dramatically.

Frederica Freyberg:

Because it’s an inherited disease, it’s tested for in babies. When do most people show symptoms or signs?

Andrew Braun:

All children in the United States, all states now screen for cystic fibrosis as of 2009. The University of Wisconsin actually led the efforts for newborn screening and it’s actually since the mid-1980s that patients in Wisconsin have been able to be diagnosed at birth. There are a few cases that are diagnosed in adulthood but the vast majority of people will know within a week or two of life that they’ve been diagnosed with CF.

Frederica Freyberg:

Let’s hear from one of your patients who has received this treatment.

Jessica LaBrec:

I think compared to before, it’s really helped my quality of life with being able to do more things on my own. Being able to do more things that I enjoy with ease. To me, it almost feels as close to a cure as I ever thought was possible in my lifetime. Because it’s kind of given me my life back.

Frederica Freyberg:

So she says it feels like as close to a cure as she thought she would ever have in her lifetime and it has given her her life back. How meaningful is that to you as her physician to hear that?

Andrew Braun:

It is really amazing. We’ve never seen a therapy like this before. The fact that our patients are now going to be able to look towards a future they didn’t think they would have is quite remarkable. This therapy is going to be available for 85 to 90% of people who are living with CF and on approval, it is for only patients who are 12 years and older. We expect children to be able to be accessing this medication hopefully within the next few years. But there are still 10% of patients that we need to continue to fight for and are going to need other types of genetic therapies to help to develop that type of improvement in their symptoms.

Frederica Freyberg:

Describe the improvement that you saw in that patient or others going from place A to place B with the treatment.

Andrew Braun:

I would characterize that patient’s symptoms and lung function to be — have really started to develop into an advanced or severe state. This therapy for her has improved her back into a much different state of lung function. She’s now able to reconsider interacting with the things she loves to do on a daily basis. And it will dramatically be improving her quality of life going forward.

Frederica Freyberg:

Because one of the things that people with cystic fibrosis also have to be really careful about is getting, say, a cold, right? And so they have to kind of limit where they go and who they see.

Andrew Braun:

Well, we’re still going to tell our patients to do everything they need to do to stay healthy. And that means staying away from people who are sick or really taking good hygiene precautions. This is a therapy that is highly effective but they’re still going to be at risk for future concerns related to the disease today. So it is not a cure yet. But yes, it is improving quality of life.

Frederica Freyberg:

You said this will be available to a large number of cystic fibrosis patients. What about right now?

Andrew Braun:

So the FDA approved it approximately 2 and 1/2 weeks ago. We’ve been putting in prescriptions and we are waiting for insurers to look into authorizing the medication for patients. It is initially approved for people with a diagnosis of cystic fibrosis who are 12 years and older and have a very specific gene mutation. That gene mutation, which is the F508del mutation, which many people with cystic fibrosis know that name, includes 85 to 90% of people with CF.

Frederica Freyberg:

Just very briefly, how long have researchers been working towards this day?

Andrew Braun:

Yeah, this is 20 to 25 years of breakthrough science that has been fostered by the involvement of many people raising money for cystic fibrosis. The National Cystic Fibrosis Foundation that was critical in funding some of this research in the beginning and it is both from patients who participated in research trials and the community that has supported them that have gotten us to this point today.

Frederica Freyberg:

All right. Dr. Andrew Braun. Thanks you very much.

Andrew Braun:

You’re welcome.