By definition, a rare disease is one that strikes fewer than 200,000 Americans, sometimes only a few dozen. But with 7,000 rare diseases known to doctors, and more emerging all the time, nearly 1 in 10 Americans has a rare disease. For most, there is no treatment, let alone a cure. Just getting an accurate diagnosis often requires a medical odyssey, and 30 percent of children with a rare disease die before age 5.
For decades, drugmakers were reluctant to invest in rare-disease treatments, preferring to focus on mass-market drugs for cholesterol, heart trouble and other common problems. Then, starting a decade ago, patents on some of the industry’s most lucrative medicines began to expire, and cheap generic drugs started wiping out tens of billions of dollars in annual revenue.
So many companies shifted money to rare-disease drugs, knowing that those medicines cost less to develop and will face limited competition. Some already sell for $100,000 or more for a year of treatment, although drugmakers usually give financial aid to patients and big discounts to insurers and government health programs.
“They’re recreating the blockbuster,” said analyst Steve Brozak of WBB Securities. “There’s more money, fewer patients and it’s 10 times easier to defend high prices to payers.”
Last year, the Food and Drug Administration approved a record 17 medicines for rare diseases. More than 450 others are in development to treat a wide variety of ailments — rare cancers, sickle-cell disease, the hormonal disorder Cushing’s disease and a bleeding ailment called thrombocytopenic purpura, as well as hemophilia, Hodgkin’s lymphoma and pulmonary fibrosis.
Patient-advocacy groups are getting better at raising money for research and building registries of patients that could be used to recruit participants for drug studies, a process that otherwise can take years.
Read more at How Patients Are Driving Research & Cures For Their Own Rare Diseases.
Filed under: Cushing's, Rare Diseases | Tagged: Cancer, drug companies, hemophilia, Hodgkin's Lymphoma, pulmonary fibrosis, Rare disease, sickle-cell disease, thrombocytopenic purpura | 1 Comment »
Jenna Miller, MS, CGC, Genetic Counselor, Recombine
Cynthia Frank, Director, Patient Advocacy & Meetings, Nat’l Gaucher Foundation
Janet Mills, Trustee and Patient Advocate, cureCADASIL Association
Michelle Fox, MS, LCGC, Genetic Counselor Consultant, Invitae
Daniel Levine, Founder & Principal, Levine Media Group
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