There are only a few rare diseases which have pharmaceutical treatment options (Cremers and Aronson, 2017). These pharmaceutical treatments, termed ‘orphan drugs,’ are often life-changing treatments but are only available for a very select number of rare diseases.This is partly due to the fact that the biopharmaceutical industry regards these orphan drugs as uneconomical to produce due to the vast amount of investment needed for the initial research and development, difficulties with small cohorts for clinical trials,and the relatively small‘customer’ pool to recoup the investment. Hence, research and development in rare disease therapeutics is likely to be costly and financially risky for the pharmaceutical industry. A recent report has indicated that orphan drugs are listed as the world’s top ten most expensive drugs (PhRMA, 2015), putting them out of reach for most patients to afford privately.
The United States Congress passed the Orphan Drug Act (ODA) in early 1983.The ODA provides a special status to pharmaceutical agents or biological products that treat a rare disease or condition upon the request of a sponsor. For a drug to qualify for orphan designation, the drug and the disease must fulfil certain criteria as specified in the ODA and FDA regulations (Hunter, Rao, and Sherman 2017). Orphan designation enables various development incentives such as tax credits for clinical testing.A marketing application for a drug product that has received orphan designation is not subjected to a prescription drug user fee unless the application included an indication for anything other than the rare disease or condition for which the drug was designated to treat. In addition, the manufacturer is also provided with various forms of research support and a seven-year exclusivity period for emerging therapies. More than 600 drugs and biologic products have been approved for treatment of rare diseases since the ODA was passed, and over 230 new drugs have been approved in just the last ten years, indicating a growing interest by the biopharmaceutical companies to develop these drugs (PhRMA, 2015).
Although this is an encouraging trend, these developments only represent medication for less than one in ten patients with a rare disease. Furthermore, while these efforts have brought new treatment options to patients with rare diseases, the medication is still unaffordable to many patients in low and middle income countries. Equitable access to treatment for rare disease patients is in line with United Nations Sustainable Development Goals, one of which is ensuring healthy lives and promoting well-being for all at all ages, leaving no one behind. The European Commission, in its White Paper “Together for Health: A Strategic Approach for the EU 2008- 2013” identified rare diseases as a priority for action.
These pharmaceutical treatments, termed ‘orphan drugs,’ are often life-changing treatments but are only available for a very select number of rare diseases.
The Challenges and Recommendations
Challenges faced by Malaysia Rare Disease communities and Recommendations are authored by
Prof Thong Meow Keong and Dr. Azlina Ahmad-Annuar.