In an open letter to the UK prime minister and health secretary, 20 physicians - primarily neurologists -and a patient advocacy group are calling for an investigation into the pricing of orphan meds because, they contend, drugmakers are exploiting a legal loophole to generate big profits while doing very little research and development work (see the letter in BMJ here).

Specifically, they point to Firdapse, a drug that treats Lambert-Eaton Myasthenic Syndrome, or LEMS, which is a rare autoimmune disease that causes muscle weakness and is a slightly modified version of diaminopyridine, an older med used for 20 years to treat LEMS and a similar illness, congenital myasthenic syndrome. The drug is sold by BioMarin, which obtained the product last year as part of its acquistion of Huxley Pharmacuticals, and recently, received an exclusive European Union marketing license, according to BMJ (read this).

However, the UK’s Medicines and Healthcare Products Regulatory Agency (MHRA) told neurologists they are obligated to use Firdapse for both LEMS, which affects about 150 people, and the other affliction as well, even though there is no license issued for the older medication. BioMarin was granted its 10-year license based on physician experience with diaminopyridine, but did not have to conduct any safety or efficacy trials, BMJ notes.

Meanwhile, BioMarin raised the price of Firdapse to the point where the med now costs 50 to 70 times as much as the older, similar med. Treating a patient for a year with diaminopyridine costs between $1,300 and $1,600, while Firdapse treatments runs from about $64,000 to $112,000, depending on dose. The price hike, however, prompted some primary care trusts argue the drug is not cost effective and to refuse patient funding, BMJ continues. The problem, critics say, is that the EU regulation did not create an oversight body to regulate prices and protect consumers from market abuse

“Drug companies are sweeping up useful little products that pharmacists have been producing in their back shop for years, that are available and cheap. They then turn them into something people can’t afford, and present it as a good thing,” Sam Richmond, a neonatologist at Sunderland Royal Infirmary who signed the letter, tells BMJ. “This is not what the law was intended to do. If drug companies are undertaking research where nobody else was interested - and some are - then a monopoly may be justified. But if it’s a product already in use, they should clear off, or sell at a price comparable with the existing price.”

Adds Daphne Austin, chair of the UK Commissioning Public Health Network, says: “It disgusts me. It really does…The price set for this drug is indecent.”

“…As a direct effect of this drug’s price, some patients will not get the care they would have done—either because their primary care trust won’t fund it, or because it will and other patients’ care has to be cut to find the money.”

BMJ notes that a study of 44 orphan drugs approved by the European Medicines Agency by the and of 2006 found that only 25 had been tested in randomized control trials, often on small numbers of patients and over short periods of time. In fact, some drugs were approved on the basis of the existing literature, while approvals for other meds were based on data from trials with as few as 28 patients.

A BioMarin spokeswoman tells BMJ that the quality of diaminopyridine made by compounding pharmacies was uneven: “A study by the University of Cardiff showed significant variability in the percentage of active drug in doses. In nine compounded formulations from different sources the dose of active drug varied from 22 percent to 125 percent.”

But one neurologist, David Nicholl of City Hospital and Queen Elizabeth Hospital in Birmingham, tells BMJ that physicians had not noted that stability of diaminopyridine was a clinically important problem despite almost 30 years of use.