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Drugs for rare and limited prevalence diseases

Rare or low-prevalence diseases represent a serious challenge for society: they are often debilitating and highly disabling conditions, potentially life-threatening, and characterized by a high degree of complexity.

Due to their low frequency, they do not always receive the same attention as other diseases of greater scientific and economic interest. Although scientific research has made significant progress in recent years, many pathological conditions remain inadequately understood and/or unclassified.

PIAM has chosen to expand its commitment to the treatment of these high-impact diseases, which are often less known both to the general public and the scientific community.

Many rare diseases have a genetic origin, but approximately 20% are acquired conditions, including rare forms of cancer, autoimmune diseases, and diseases of infectious or toxic origin; for many of these conditions, the cause remains unknown.

A disease may be considered rare or low-prevalence in one geographical area (such as tuberculosis in Italy) but common in another. According to Regulation (EC) No. 141 of 2000 and previous legislation, rare diseases are defined as those “with a prevalence not exceeding 5 in 10,000 inhabitants.”

Currently, in the European Union, between 5,000 and 8,000 rare diseases have been identified, affecting 6-8% of the population—equivalent to 27 to 36 million people.

Patients affected by rare diseases are often left without treatment options or have no therapeutic alternatives available.

However, the current situation has significantly improved: the number of available drugs has increased, as has the number of diagnoses, thanks in part to the wider implementation of neonatal screening.

This is a crucial aspect, as the early diagnosis of a rare disease can help reduce symptoms, disease-related complications, and/or mortality. It is also essential to support research in this field to ensure that, in the future, treatments become available for all patients with rare or low-prevalence diseases who currently lack an adequate therapeutic strategy.

PIAM, always at the forefront in offering innovative treatments for conditions marked by high complexity and unmet medical needs, has already been active in this field with its medical foods, particularly in the area of inherited metabolic diseases. Recently, PIAM has decided to expand its focus to include pharmaceuticals specifically dedicated to the treatment of rare diseases.