english.prescrire.org > Positions > Regulatory issues > Rare diseases: more new drugs, mixed results

Theme: Regulatory issues

Drugs regulatory bodies ought to be the public’s principal defence against medicines that are useless, unproven or downright dangerous. Yet regulators increasingly depend upon financing from the pharmaceutical industry itself.  

Rare diseases: more new drugs, mixed results

Patients suffering from rare diseases are entitled to drugs that have been adequately evaluated, and that can give them concrete guarantees, not just hope.

Within the European Union, a rare disease is generally defined as affecting at most 5 people out of 10,000. There are reportedly between 6,000 and 7,000 identified rare diseases in the world, mainly of genetic origin.

Pharmaceutical companies do not spontaneously try to develop drugs for these diseases, chiefly because of the limited market for them. Funding and other incentives are offered to companies that market "orphan drugs" designed to treat rare diseases.

There are more and more drugs for patients suffering from rare diseases, but these drugs do not always represent progress for patients. Over the years, some prove to be of significant benefit, but others have a dubious or even unfavourable risk-benefit balance.

It is important that new drugs be available to treat rare diseases. But just like any other patient, those suffering from rare diseases also need drugs to be approved on the basis of concrete guarantees, not just hope.

©Prescrire 2008

Source: "Garanties" Rev Prescrire 2008; 28 (292): 84.