Bringing Hope to Patients with Rare Diseases

Sat, 09/05/2015 - 12:40

Infectious and chronic diseases have occupied the main focus of both the public and private health systems and rare diseases have taken a back seat. Rare diseases are those that affect a small number of individuals, although there is no universal definition of which diseases classify as rare and how many sufferers there are, as numbers vary from country to country. While in the US a disease is considered rare if it affects less than one person per 1,500, in the European Union the requirement is one per 2,000 individuals. Mikel Arriola, head of COFEPRIS classified a rare disease as one that affects one person in every 2,000, but this number may vary by geographic area and time period. These diseases are often genetic and in some cases there are as few as only one or two documented cases. Their low prevalence makes them extremely difficult to detect and quantify and there are no concrete numbers of how many exist, but it is estimated that there may be about 6,000 or 7,000 such diseases and each week five more are identified.

Rare disease diagnosis is often challenging. Exact numbers are uncertain, but it is estimated that around 350 million people worldwide are currently suffering from a rare disease. Developing countries face even more uncertainty as quality healthcare services are not guaranteed, making it even less likely for patients to obtain a timely diagnosis. Even after patients are diagnosed they are unlikely to obtain an effective treatment as few pharmaceutical companies are willing to invest in orphan drugs (ODs) to treat them. The drug development process is highly expensive and time consuming; development of a single medication can take more than ten years and cost millions of dollars. As these drugs target very few individuals, a recovery of invested capital is unlikely. This fact makes ODs extremely expensive and unattainable to many patients. For example Alexion Pharmaceuticals’ Soliris (eculizumab), used to treat paroxysmal nocturnal hemoglobinuria, costs US$440,000 per year of treatment. At this point it is estimated that the cost of an OD is 19 times higher than the cost of regular medication with patients ultimately covering the costs. The prices of ODs are set on a case by case basis but generally the smaller number of patients who benefit from the drug, the higher its cost.

While the process has been laborious, both the governments and pharmaceutical industries are promoting the discovery and development of ODs, giving hope to numerous patients. In the US the Orphan Drug Act of 1983 provided economic incentives for developers of ODs including seven years of market exclusivity, tax credits, and grant funds. Since this act was passed about 500 new ODs were approved, a large number in comparison

to the less than ten approved in the 1970s. Another encouraging factor is the Human Genome Project. Since it is estimated that approximately 80% of rare disease are of genetic origin, sequencing the human genome has allowed great progress for personalized medicine, yielding tools for treating many previously unexplored conditions. Also genetic markers allow doctors to diagnose a patient population before it even begins to show symptoms.

In Mexico the total number of individuals affected by rare diseases is undetermined, but COFEPRIS recently stated that approximately 50,000 patients have been diagnosed. Another large problem is that clinical studies of ODs are limited by the small number of available patients thus slowing their introduction into the country. Taking into account the impressive and on occasion prohibitive costs of ODs, Mexico’s public health sector faces a difficult decision between providing life-saving medicines to a few patients at extremely elevated costs or treating many more patients with less expensive medicines. Soliris, for example, can only benefit 77 diagnosed patients in Mexico but would imply spending US$34 million on its development.

Even so the current COFEPRIS administration has made sustained efforts to introduce ODs to Mexico. In January 30th 2012 the articles 224 Bis and 224 Bis 1 were added to the National Law of Health with the aim of facilitating the approval and introduction of ODs to Mexico and allowing the Ministry of Health to propose recommendations to the National Institutes of Health for the development of these medicines. The effect of this law was significant and immediate. In the past three and a half years 52 orphan drugs have been introduced to Mexico in comparison to the single drug approved in 2010. Over the course of 2015, 19 new ODs have been approved by COFEPRIS.