Unknown = unloved: orphan diseases, orphan drugs
By Andrew Freeway (source: Marten Dooper)
People with a rare disease have as much right to the best treatment as those with a more common one. This is an excellent principle though hard to keep up in practice. For most rare diseases no medication is available. Sufficient knowledge is lacking and the pharmaceutical industry is not very eager to develop appropriate medication since the demand is too low for a marketable product. Recent European legislation, guided by an excellent U.S. example, will help to change this situation.
Aarskog-Scott, Biermer, Churg-Strauss, Hurler, Gaucher, Fabry, Prader-Willi, Pompe, Niemann-Pick, Krabbe etc etc. Immortal names of physicians and researchers, all of whom have a disease or syndrome named after them. Not ordinary diseases, but all rare diseases or syndromes. According to the European Union a rare disease is a disease found in less then 5 out of 10,000 people.
Triple trouble
At first glance, the necessity to define rare diseases in such a detailed, specific fashion looks like typical European red-tape behavior. But being accurate is absolutely necessary. In December 1999 the European Union accepted the so-called "Orphan Drugs Regulations", covering a number of favorable measurements to stimulate pharmaceutical industries to develop specific medicines for these rare diseases, the so-called orphan drugs.
People with these rare or orphan diseases are often the victims of triple trouble. First the disease is often so rare, it takes a very long time before a proper diagnosis can be made. Secondly, even after a proper diagnosis has been reached, probably the physician in charge has not enough knowledge about the effects of or experience in treating it according to the state of art. Thirdly, if you are lucky enough to find physicians with the specific knowledge, they often do not have the means to treat the disease because of the lack of proper medication. Even if the knowledge about certain diseases can be identified by the pharmaceutical industry, they are very hesitant to invest in research and development (R&D) of orphan drugs. Most of the time, the demand for such drugs is so slight that the R&D costs will never be covered, let alone the impossibility of realizing any profit from it.
The American model
Twenty years ago the American government recognized the need to stimulate the pharmaceutical industry in order to make orphan drugs available. The Orphan Drugs Act became an important instrument by granting subsidies, tax advantages and many years of market monopoly for those who were willing and able to develop these drugs. A wise decision: since the introduction of the Act, more then 200 orphan drugs have been registered and entered into the market. And the Act also stimulates research in the area of rare diseases and has contributed to the blossoming of biotechnological industries specialized in translating this new knowledge into new drugs. The American success model was a real example for the European Union to act likewise. The European Regulation is granting the industry a reduction in administrative registration fees and a monopoly of 10 years for their orphan drugs.
The first successes have already been noted: in 2001 two orphan drugs against Fabry were registered.
The brutal reality
This might sound like an enticing fairytale but the reality is more brutal. Registration of these orphan drugs comes with new problems like paying for the treatment. In spite of all the stimulating measurements, the orphan drugs are very expensive right now and in most cases people have to use them for the rest of their lives. The new Fabry medication, for example, costs around $10,000.00 a month. The quality of care is another problem for people with rare diseases. Not only knowledge about the disease itself, the diagnostics and the proper medication is lacking, also the knowledge about the necessary care is fragmented. Therefore it is absolutely necessary to develop initiatives where researchers, healthcare providers, policy makers and patients can come together to coordinate knowledge and resources to improve the quality of life of people with rare diseases. Such an initiative could function as a collection point or "counter" where people could get all information necessary. But the initiative could also assess the current way research is done and act as an advocate to promote the right R&D.
It is a fact of life: even in cases like Orphan Diseases money makes the difference. The American and now European initiatives offer ample opportunities for the industry to adopt orphan diseases. It is up to us now to make sure that the orphans are known so they might get loved. Biotechnological development could also be to the advantage of these orphans.
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