Three scientists at Vertex Pharmaceuticals will share a $3 million prize for revolutionizing the treatment of cystic fibrosis and adding decades to the lives of patients with the deadly genetic disease.
Sabine Hadida and Paul Negulescu, both senior vice presidents at the Boston-based company, and Fredrick Van Goor, vice president and head of cystic fibrosis research, will receive a 2024 Breakthrough Prize in Life Sciences for developing four game-changing Vertex drugs that have won approval since 2012. All three scientists work at Vertex’s cystic fibrosis research center in San Diego and have collaborated for more than 20 years.
A generation ago, people in the US diagnosed with cystic fibrosis — currently almost 40,000 children and adults — typically lived only into their 30s because the disease drowned their lungs in a thick, sticky mucus, according to the San Francisco-based Breakthrough Prize Foundation. The Vertex scientists helped change that by creating a new class of drugs that reduces mortality by 74 percent and lung transplants by 87 percent.
“This deadly disease of the lungs and other organs is caused by a protein that can’t do its job,” the foundation said. “These researchers discovered four drugs that enable the protein to function, greatly improving quality of life – and length of life – for people with this disease.”
Vertex’s most recently approved drug, Trikafta, can increase the life expectancy of people with the disease to about 83 years if they start taking the medicine around the age of 12, according to a study published in July in the Journal of Cystic Fibrosis.
“Over the last 20 years, we turned what was once a seemingly impossible scientific problem into a reality with our CF medicines,” Van Goor said in a statement. “To fundamentally transform the course of a devastating disease like CF is a dream come true, and I’m incredibly thankful to be part of the amazing team who made it possible.”
Negulescu said the new treatments resulted from “innovative work of hundreds of people across Vertex and our partners in the CF community.”
Cystic fibrosis is caused by a defective gene that results in a buildup of mucus in the lungs, pancreas, and other organs. People with the disease inherit two copies of the defective gene, one from each parent.
The gene was co-discovered in 1989 by Dr. Francis S. Collins, who directed the National Institutes of Health from 2009 to 2021. Despite that breakthrough, cystic fibrosis treatments remained mainly palliative for decades.
Patients had to take a slew of drugs to improve their breathing and ability to process foods. Some patients inhaled medicated mists through a nebulizer or used a contraption that resembles a defibrillator and emits sound waves to loosen mucus in their lungs.
Many scientists sought to treat the underlying cause of the disease by trying to repair the faulty gene, according to the foundation. The three Vertex scientists skirted conventional wisdom and instead focused on repairing the misshapen goo-producing proteins as they formed in cells.
The first medicine Vertex got approved was Kalydeco, which was cleared by the Food and Drug Administration in 2012 but worked for less than 10 percent of patients, according to the foundation. In contrast, Trikafta, which was approved in 2019, can treat 90 percent of patients. Patients and doctors say improvement becomes obvious almost immediately after taking Trikafta.
“Drug discovery and development is a long journey that requires patience and resilience,” Hadida said. “There are no shortcuts. I’m so proud to be a part of this incredible team that keeps pushing forward for patients who were and are still waiting for transformative medicines.”
Despite how effective they are, the Vertex drugs have stirred criticism for their price tags. With a list price of more than $300,000 a year in the US, Trikafta costs millions of dollars over a patient’s lifetime, although the expense is typically borne by health insurers.
Doctors and advocates have also complained that Vertex’s medicines are not readily available in poor countries in comparison with rich nations.
The Vertex scientists were among 11 winners sharing five $3 million Breakthrough Prizes awarded in life sciences, fundamental physics, and mathematics. The foundation has awarded more than $300 million since the prize was established more than a decade ago.
The prize was established and sponsored by internet entrepreneur Mark Zuckerberg of Facebook; his wife, philanthropist Priscilla Chan; Google cofounder Sergey Brin; entrepreneur and venture capitalist Yuri Milner; and Anne Wojcicki, one of the founders of the personal genomics company 23andMe. The award is sometimes described as the “Oscars of Science.”
Jonathan Saltzman can be reached at email@example.com.