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Drugs for rare and limited prevalence diseases

Rare or low-prevalence diseases constitute a serious problem for society: they are often debilitating and seriously disabling, potentially lethal and highly complex.

Since they occur with a low frequency, they are not always given the same attention that is paid to other diseases of greater scientific and economic interest. Although, over the last few years, scientific research has made considerable progress, there are still many pathological states that are not adequately known and / or not yet classified.

PIAM has decided to expand its commitment to the treatment of these diseases with a high social impact and which are characterized by a lesser amount of knowledge on the part of both the scientific community and wider society.

Many rare diseases are of genetic origin, but about 20% of cases are acquired diseases, including rare forms of cancer, autoimmune diseases and diseases of an infectious or toxic origin. The causes of many of these remain unknown today.

A disease can be rare or low-prevalence in one geographical area (such as tuberculosis in Italy), but be frequent in another. According to EC Regulation n.141 of 2000 and previous regulations, those diseases “whose prevalence does not exceed 5 per 10,000 inhabitants” are considered rare.

Today, in the European Union, between 5,000 and 8,000 rare diseases are reported, affecting a total of 6-8 percent of the population, or from 27 to 36 million people.

Patients with rare diseases often find there is no treatment available or otherwise lack therapeutic alternatives.

However, the current situation has improved significantly: the number of available drugs has increased and the number of diagnoses has risen thanks to the spread of neonatal screening.

This latter aspect is very important since early detection of a rare disease can help reduce problems and complications related to the disease and / or mortality. It is also of fundamental importance to support research in this area so that, in the future, treatments for all patients suffering from rare or low-prevalence diseases will be available, which to date do not have an adequate therapeutic strategy.

PIAM is at the forefront of providing innovative treatments for diseases characterized by great complexity and unmet medical need. It already offers food for special medical purposes, and in particular treatments for inherited metabolic diseases. PIAM has recently decided to expand its areas of focus to include drugs specifically dedicated to the treatment of rare diseases.