Cystic Fibrosis Drug is Personalized Medicine

Uploaded by USFoodandDrugAdmin on 31.01.2012

Kalydeco represents an excellent example of the future of personalized medicine. Having
the right medicine for the right patient based on an understanding of the mechanism of disease
and in turn having a diagnostic test, a genetic test, to select the right patient to receive
that particular medicine.
It’s really a remarkable story. Cystic fibrosis is a serious genetic disease and Kalydeco
is the medicine targeted at the cause of the illness, not just dealing with the symptoms
or complications. It’s also a part of a revolution about how we will treat patients
in the future using increasingly targeted, personalized treatment.
Patients with cystic fibrosis have a mutation or an abnormality in a gene that codes for
the CFTR, a membrane protein. Abnormal function of this protein leads to the symptoms of cystic
fibrosis, including thick mucous secretions in the lung and in the digestive system. There
are many different mutations that lead to cystic fibrosis. Each patient has one specific
variant, or abnormality, in that gene and Kalydeco is targeted against one specific,
abnormal protein product of one specific, abnormal gene. Kalydeco will improve the function
of that protein and in clinical studies it was shown to improve lung function and beneficial
weight gain.
There are approximately 30,000 patients with cystic fibrosis in the United States. And
approximately 4 percent of those have the specific variant that Kalydeco will help.
In other words, about 1,200 patients.
This medicine represents the skillful application of basic genetic science, understanding at
a molecular level why the abnormal protein doesn’t work properly, then discovering
and developing a medicine specifically targeted to improve the function of that protein, and
then to do a clinical trial using a genetic test to select the right patients to participate
in that trial.
The success of this approach hopefully will lead to the development of new medicines to
address the more common mutations in cystic fibrosis, and also serve as a model for the
development of medicines for other conditions. Parenthetically, the well-designed and implemented
science in this program allowed FDA to review and approve the medicine in about half the
time of the normal expedited review process.