Cystic fibrosis (CF) is a rare, genetic, degenerative disease that primarily affects the respiratory and digestive systems. It has a great impact on the quality of life of patients, since it frequently translates into taking a multitude of daily medications, the risk of prolonged hospitalizations and, in the most serious cases, even lung transplants. Although it is the most common rare disease and affects around 2,700 people in Spain, until 2012 CF treatments focused solely on symptoms. The World Day for Rare Diseases has recently been celebrated to remember the importance of research in these pathologies.
“What we have learned in cystic fibrosis allows us to advance the investigation of other pathologies, where we believe that our scientific approach could have a significant impact”
In fact, of the more than 7,000 rare diseases known today, only 5% currently have a treatment available. CF is one of those diseases in which scientific innovation has played a very important role, as explained by Sara Alonso, medical director of the biotechnology company Vertex Pharmaceuticals in Spain and Portugal. “We started our cystic fibrosis research program in 1998 and, since then, more than a million molecules have been studied. From the beginning, our approach was based on directly addressing the causes of the disease, not just the symptoms.”
In addition to therapeutic advances, the prognosis of these people has evolved very favorably in recent decades due to the implementation of early diagnosis and the creation of specific CF care units, according to experts. A good example of this is the increase in life expectancy, which has gone from only seven years in children born in 1965, to almost fifty years today. “Fortunately, cystic fibrosis is no longer a disease exclusive to children and adolescents and there are now more adult patients than pediatric patients”, Sara Alonso points out.
However, there is still a lot of work to be done because it is a complex genetic disease and there are patients with genetic variants for which there is still no treatment: “Today, we continue to investigate for children, adolescents and adults who, for now, they cannot access any therapeutic option, and also to slow down, as soon as possible, the evolution of the disease and the appearance of irreversible consequences in the younger generations”, adds Alonso.
Of the more than 7,000 rare diseases known today, only 5% currently have a treatment available.
Vertex’s research and development (R&D) journey, which began more than twenty years ago in cystic fibrosis and continues, has laid the foundation for the company’s work and exemplifies how it is being applied beyond this disease.
Currently, this biotechnology company has in its R&D pipeline different therapeutic modalities, from small molecules to cell and gene therapies, in serious diseases such as sickle cell anemia, beta thalassemia, renal disease mediated by genetic variants in APOL1, pain, type 1 diabetes, alpha-1 antitrypsin deficiency, and Duchenne muscular dystrophy. “What we have learned in CF allows us to advance in the investigation of other pathologies, where we believe that our scientific approach could have a significant impact on the lives of patients”, concludes Sara Alonso.