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Feature Orphan Drugs

Paying twice: questions over high cost of cystic fibrosis drug developed with charitable funding

BMJ 2014; 348 doi: (Published 12 February 2014) Cite this as: BMJ 2014;348:g1445
  1. Deborah Cohen, investigations editor1,
  2. James Raftery, professor of health technology assessment2
  1. 1BMJ, London, WC1H 9JR, UK
  2. 2University of Southampton, Southampton, UK
  1. Correspondence to: D Cohen dcohen{at}

Deborah Cohen and James Raftery ask why one of the first drugs to be developed by a partnership between a charity and a drug company also ended up being one of the world’s most expensive drugs. Why didn’t such philanthropy lead to greater patient access?

In early 2012, the first drug targeting the underlying cause of cystic fibrosis was approved in Europe and the United States. Ivacaftor’s (Kalydeco) arrival was greeted with a flurry of excitement.

Billed as a “game changer” by industry pundits and “a profoundly exciting development” by National Institutes of Health director, Francis Collins, ivacaftor soon became one of the world’s most expensive medicines—its mode of action considered as exciting as its unique funding model. Ivacaftor was approved for a rare group of patients who carry the genetic mutation, G551D, in the cystic fibrosis transmembrane regulator (CFTR) gene—about 5% of people with the disease.1 Mutations in the CFTR protein, which regulates ion—and therefore water—transport in the body, lead to the formation of thick mucus in the lungs, digestive tract, and other parts of the body. Ivacaftor facilitates increased chloride transport in people with the G551D mutation, and in trials it was found to improve forced expiratory volume. Trial participants also had fewer exacerbations and put on weight (box).

The US Food and Drug Administration was quick to add its support for the drug. “Kalydeco is an excellent example of the promise of personalized medicine—targeted drugs that treat patients with a specific genetic makeup,” FDA commissioner, Margaret Hamburg, said when it was licensed. “The unique and mutually beneficial partnership that led to the approval of Kalydeco serves as a great model for what companies and patient groups can achieve if they collaborate on drug development.”2

New model of funding

Ivacaftor is the first drug developed through “venture philanthropy”—a partnership between …

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