Leading Firms Seek a Cure for Rare Diseases

AstraZenecaRare drugs often do not recoup the cost of research. Governments can help by lowering regulatory hurdles.

Drugs companies, patients' groups and regulators work together to treat ailments in the low-volume market.

Some diseases are so rare that drugs companies would never recoup the cost of researching, developing and marketing. But a flexible approach to regulation and incentives has helped create new orphan drugs, so called because they treat diseases that are sometimes ignored or orphaned.

As many as 95 per cent of rare diseases still do not have treatments, according to industry executives. But orphan drugs are increasingly the subject of coopration between producers, patient associations and governments. They even have their own Rare Diseases day on February 28th.

Drugs are granted an orphan status if they treat a rare diseases that is life threatening or seriously debilitating. About 80 per cent of them are genetic diseases, explained Karin Otter, formerly Medical Director at AstraZeneca Russia.

The definition of a rare disease is not universal and depends on the legislation of each country. For instance, rare diseases in the US affect less than 200,000 patients (6.4 per 10,000 inhabitants), but in the European Union it is classified as a disease with a prevalence of 5 per 10,000 inhabitants. The Russian prevalence measure is 10 per 100,000.

Some diseases affect fewer than 200 patients worldwide, such as the metabolic disease called N-acetylglutamate synthase deficiency. But while each disease is rare, when considered together they affect nearly 30 million Americans, or almost 1 in 10 people, and over 30 million Europeans (6 to 8 per cent of the EU population).

"People suffering from rare diseases have equal right of access to medicinal products as patients with more common conditions," said Kirill Tverskoy, Medical Director at Pfizer Russia. With more than a decade of expertise in developing treatments for rare diseases, Pfizer, now has 22 approved orphan drugs to treat genetic metabolic imbalances, neurological, oncological and pulmonary conditions.

According to Thomson Reuters' analysis, the orphan drug market was worth just over $50 billion globally at the end of 2011, with spending on orphan drugs making up approximately six percent of total pharmaceutical sales, assuming a total market value of $880 billion.

In the decade up to 1983, before the first Orphan Drug Act was passed in the United States, only 10 new treatments were brought to market by the industry for diseases that today would be defined as rare, according to NORD.

"Some conditions occur so rarely that the cost of developing and bringing to the market a medicinal product to diagnose, prevent or treat the condition would not be recouped by the expected sales of the medicinal product; the pharmaceutical industry would be unwilling to develop the medicinal product under normal market conditions." This is how European Regulation No 141/2000 described the challenge more than a decade ago.

Late in 1999, Europe followed the lead of the US and Japan where incentives for the development of orphan drugs have been available since 1983 and 1993 respectively.

In the EU, companies that have been granted an orphan designation for their medicine now benefit from reduced fees for marketing-authorization applications, and scientific advice to optimize clinical development to meet regulations. They also gain protection from competition through a 10-year market-exclusivity period.

The Committee for Orphan Medicinal Products (COMP), which is in charge of reviewing applications for orphan designations in the EU, reported that over the past 12 months, a dozen medicines for the treatment of rare diseases had been recommended for marketing. They include medicines for treating rare cancers, multidrug resistant tuberculosis and pulmonary arterial hypertension.

The European Commission granted more than 1,000 orphan designations and there has been a steady increase in the number of marketing-authorization recommendations for medicines for rare diseases over the past few years, from four in 2011 to 11 in 2013.

The European Medicines Agency in the EU works with the United States Food and Drug Administration to encourage parallel submissions for orphan designation to speed up development. Since 2012 the Japanese have taken part. Half of all applications for orphan designation were submitted in parallel last year.

Russia's register of orphan disease patients counts more than 11,000 people, according to a recent figure from the Health ministry. The head of the Health Ministry's Department for Health Care for Children and Obstetric Aid told a round table that only 63 percent of the patients receive treatment while 37 per cent do not, including cases that do not require therapy. A total of 24 life-threatening rare diseases are on the official list, with 28 types of treatment adopted to date.

Changes were made in the Russian Act on the Circulation of Pharmaceuticals to include the definition of orphan medical product status and to provide for a preferential registration process, which speeds up testing and provides an exemption from the requirement to conduct local clinical trials. The government may recognize the results of preclinical and clinical studies performed outside the Russian Federation in the case of orphan drugs.

In March this year, the head of state regulation of drug treatment at the Ministry of Health, Yelena Maksimkina, said that funding for medicines for rare disease patients had reached more than 2.5 billion rubles ($68 million) in 2012. She stressed that the problem could not be solved solely with federal funds and welcomed the involvement of non-government charity organizations. The Health Ministry statement cited a figure that compared the state's share in the financing of rare disease patients' treatment between different countries, which suggested that it varies between 10 per cent and 60 per cent.

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