In the new film Extraordinary Measures, a lone, cantankerous scientist, played by Harrison Ford, works day and night over the course of a few years to find a curefor a rare genetic disease.

Called Pompe, the real-life illness, if untreated, typically kills children before their first birthday.

In real life, the process was much more complex. Dr. Priya Kishnani, a Pompe expert at Duke University, dedicated almost 16 years of her career to developing a treatment for Pompe as part of a larger team. Dr. Kishnani knows only too well the desperation surrounding Pompe. Here, she speaks with NEWSWEEK's Grace Liew about her journey, the disease, and the facts behind the movie’s fiction. Excerpts:

How did you begin working with Pompe?

I am trained at the Duke University Medical Center and am a pediatrician by background, and then I subspecialized in clinical and biochemical genetics. I work with various genetic disorders and in-born errors of metabolism. Areas of major interest to me have been the glycogen storage diseases, of which Pompe is one of them. When I met my mentor, Dr. Y.T. Chen, he was heavily involved in the preclinical stages in the development of the enzyme for Pompe. I then got heavily involved and took the lead in the research.

How does Pompe differ in children and adults?

Essentially, Pompe patients lack the enzyme that breaks down glycogen, which then accumulates in the body’s cells. In infants, their hearts thicken due to all the glycogen buildup. And the heart dilates—imagine it working very very hard—then ultimately it fails. It just becomes this large organ that is not functioning. Pompe is a genetic disease highly dependent on the mutation. Those who have very severe mutations will result in very early presentations, very rapid progressions, and an early demise. These we call the infantile form. For the adults, it doesn’t mean that they don’t have the disease from birth but that the symptoms haven’t yet manifest. When it does, they will have difficulty with walking, fatigue easily, and ultimately end up in a wheelchair. Additionally they will have respiratory problems.

Pompe is an ultraorphan disease (there are fewer than 200,000 known cases in the United States). What are the challenges surrounding working with such a rare disease?

Funding is a significant challenge. We are fortunate that Pompe falls under the Muscular Dystrophy Association, so we received some seed money from them. But how do we interest anyone to fund larger-scale trials? The Orphan Drug Act has been helpful. It allows pharmaceutical companies that develop treatments for orphan diseases the right to an exclusive market for seven years, making it financially feasible for them to support work like this. On the research side, there is another challenge—you know so little. There is a limited amount of patients, and very little known natural history. When you run a trial and design a protocol, the FDA asks, "What are you comparing this to?" The oldest child [from the first clinical trial] is now 11 years old; I don’t know anything beyond that.

Did the movie Extraordinary Measures paint an accurate picture of Pompe?

In all fairness, Extraordinary Measures increases awareness of Pompe. Clearly it is from the perspective of John Crowley and his desperation in finding a therapy for his children. We have had a good working relationship with John Crowley through the years, and I have interfaced with him on many an occasion.

At that time, the drug that we were working on was already in place, and the first clinical trial was already done. It was not as though we started with nothing and then there was a competition [for the creation of a treatment]. I don’t think that came through in the movie. And the treatment that the children received was clearly developed at Duke, manufactured, and got FDA approval. But during the making of the movie we were not contacted for anything, nor an opinion. Why that was the case, I have no idea. Perhaps the movie wasn’t about scientific discovery. I think it was about the Crowley family and what it takes for them to save their children. But I am happy that the movie creates attention for Pompe.

Fact and fiction aside, what in Extraordinary Measures did you identify with the most?

The desperation of the family. In one scene they showed Megan, the sick daughter, suffering from pneumonia that was life threatening, and it hits the family that they might lose her. That desperation speaks to me; as a clinician you get very involved. I can’t even start to imagine what the parents are going through. I see it as my responsibility to continue to help, and I look at it as an honor that patients continue to call me around the world. It is my goal that we do it right.

In 2006, Myozyme, the enzyme Dr. Kishnani and her team were working on, earned FDA approval and is now administered across 20 countries. Pompe infants can pursue a close to normal life with lifelong enzyme therapy, a four-hour long infusion that happens every two weeks.

© 2010 Newsweek, Inc.