Rare Diseases / Orphan Medicinal Products Platform within the Swiss Biotech Association's Community (digital networking) is accessible for our members.
Platform Leader - Roland Rutschmann, Curatis
Rare diseases are diseases which affect a small number of people compared to the general population and specific issues are raised in relation to their rarity. In Europe, a disease is considered to be rare when it affects 1 person per 2000. A disease can be rare in one region, but common in another. There are also many common diseases whose variants are rare.
There are thousands of rare diseases. To date, six to seven thousand rare diseases have been discovered and new diseases are regularly described in medical literature. The number of rare diseases also depends on the degree of specificity used when classifying the different entities/disorders. Until now, in the field of medicine, a disease is defined as an alteration of the state of health, presenting as a unique pattern of symptoms with a single treatment.
The so-called 'orphan drugs' are intended to treat diseases so rare that sponsors are reluctant to develop them under usual marketing conditions.
The process from the discovery of a new molecule to its marketing is long (10 years in average), expensive (several tens of millions of euros) and very uncertain (among ten molecules tested, only one may have a therapeutic effect). Developing a drug intended to treat a rare disease does not allow the recovery of the capital invested for its research.
Orphan drugs may be defined as : Drugs that are not developed by the pharmaceutical industry for economic reasons but which respond to public health need.
Actually, the indications of a drug may also be considered as ' orphan ' since a substance may be used in the treatment of a frequent disease but may not have been developed for another, more rare indication.
In fact, three cases may arise:
Products intended to treat rare diseases:
These products are developed to treat patients suffering from very serious diseases for which no treatment, or at least a satisfactory one, has so far been available. These diseases affect only a small proportion of the population (less than one person per 2,000 in Europe), most often at birth or in infancy. The number of rare diseases for which no treatment is currently available is estimated to be between 4,000 and 5,000 world-wide. Twenty-five to 30 million people are reported to be affected by these diseases in Europe.
Products withdrawn from the market for economic or therapeutic reasons:
For example, thalidomide widely much used as a hypnotic drug some years ago and was then withdrawn from the market when its high teratogenic (triggering fetal malformations) risk was discovered. However this drug showed very interesting analgesic proprieties in diseases such as leprosy or lupus erythematosus. They are diseases for which no satisfactory treatment has been available.
Products that have not been developed:
either because they are derived from a research process that cannot be patented, or because they concern important markets which are, however, not creditworthy.