Orphan Drugs

Following on from our last blog on rare diseases, there are notable developments in pharma concerning ‘orphan’ drugs. An orphan drug is designed to treat a rare disease which has no current treatment (or inadequate treatment options) and hence may be called an ‘orphan’ disease.  Rare diseases individually affect a small percentage of the population; many have hereditary causes. Orphan drug R&D is now receiving more attention and funding from pharmaceutical companies, as rare diseases collectively affect 5 people for every 10,000 in Europe and represent a substantial market, growing from $58.7 billion in 2005 to $84.9 billion in 2009 and expected to reach $112.1 billion in 2014.

This is a relatively new trend as traditionally speaking, pharmaceutical companies sought blockbuster drugs for common conditions. However, effective drug treatment is available for many conditions such high cholesterol or hypertension, and most of these are off-patent. Therefore there has been a surge of interest and innovation in the area of orphan drugs within the industry. With a smaller patient population from which to recover R&D costs, orphan drugs often come with large price tags, sometimes controversially so.

Many initiatives have been started around Europe in an effort to encourage research innovation and information sharing between health professionals, researchers, pharma companies and patients. One example is the recent institution of The National Rare Disease Plan in Ireland which aims to improve recording, diagnosis and clinical trial participation for patients with rare diseases in Ireland. Pre-competitive research alliances are one way that pharma companies can engage in orphan drug R&D. Regulators on both sides of the Atlantic, the FDA and the EMA have announced plans to share information in the development of orphan drugs, with a single report satisfying both regulators. Additional regulatory easements may make the R&D of orphan drugs more efficient. Strategies for orphan drug development include replacement therapy for protein deficiencies caused by single gene defects, and repurposing of previously withdrawn drugs.

Given the nature of rare diseases orphan drugs will be developed only for those who will benefit from them. Thus, they can be viewed as ‘personalised’ health therapies. Rather than a ‘one size fits all’ approach in, this considers various factors which affect a person’s individual genetic make-up and therefore how their body will interact with a disease or treatment. The current focus on orphan drugs may accelerate the acceptance of personalised medicine approaches in the treatment of common diseases, such as hypertension, which have been shown to have multiple genetic causes. Identifying suitable patients is critical for the use of orphan drugs, or for successful personalised medicine. Java’s custom assay development service can be useful for the discovery or validation of biomarkers to identify suitable patients for use with orphan drugs or in personalised medicine.