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Rare Diseases

Our industry is committed to finding solutions for rare diseases, which present a unique public health challenge. The development of orphan medicinal products is of significant value to society and the economy as a whole.

There are between 5,000 to 8,000 rare diseases, most of which have a genetic basis, and most of which have an unmet need. It is estimated that one out of 15 persons worldwide could be affected by a rare (“orphan”) disease – equivalent to 400 million people worldwide. Often, rare diseases are serious chronic diseases, and may be life-threatening.

The adoption of regulation to promote the development of orphan medicinal products in the European Union and United States has resulted in better understanding of rare diseases and successful development of new cutting-edge technologies. However, development of orphan drugs remains a risky undertaking for those involved, with the rarity of diseases posing a number of challenges: a small number of patients, logistics involved in reaching widely dispersed patients, a lack of validated biomarkers, and limited clinical expertise and expert centres.

There is still much to be done to ensure rare diseases are recognized as an international public health priority. The pharmaceutical industry has established a number of initiatives in rare diseases, for example the Joint EFPIA-EuropaBio Task Force on Rare Diseases and Orphan Medicines, a European alliance of over 45 member companies which has existed for over 15 years, that is committed to the development of orphan medicinal products and improving the lives of patients with rare diseases. In the United States, PhRMA has published various literature to highlight the efforts that have been made by the industry in the United State to address rare diseases.

In the United States, over 400 products have been approved as therapy for more than 200 rare disease indications and in the European Union, over 70 products for about 45 indications. Efforts have been made over the past decade in a broad range of disease areas, representing conditions that vary widely in terms of prevalence, availability of treatment options, and patient populations affected.

IFPMA is committed to engaging in rare diseases, and to building greater collaboration with the broader rare disease community, to achieve greater visibility for rare diseases in the public health agenda.

Due to rarity, patients with rare diseases have not benefited from medical innovation to the same extent as patients with common diseases. Regulatory and economic incentives are often required to ensure that patients suffering from rare conditions will, in the future, be able to benefit from advances in medical innovation.

6,000 to 8,000 rare diseases

exist worldwide, defined in Europe as a disease which affects less than 1 in 2,000 people

80% of rare diseases

are of genetic origin, and are often chronic and life-threatening

400 million worldwide

are estimated to be affected by rare diseases

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