At a recent Summit in Miami, the emphasis for small and medium sized pharma, biotech and devices companies (and indeed for the large pharma attending) was overcoming the challenges of rare diseases.

The definition of a rare disease is defined differently around the world: for example, in the US it is a total population of less than 200,000; in the EU it is defined as </= 5 per 10,000 population. However, diagnosing and studying rare diseases is a great deal more difficult. To start with, there are at least 5,000-8,000 rare diseases worldwide, which means that at least 25 million people are affected globally. The problem is that many rare diseases are genetic and can be very difficult to diagnose.

As many as 30% of children with rare diseases die at less than 5 years old. These years for their parents must be filled with anxiety, frustration, sadness and despair. In addition, healthcare costs for these small children are likely to be huge.

Prior to the Orphan Drug Act in 1983, there was little to no commercial incentive to study these diseases, many of which had limited natural history data. Therefore, people suffering from a rare disease often have a delayed diagnosis and treatment (if any is available) and this issue is accentuated in rural areas where specialised healthcare is thin on the ground. With phenotype variations common in genetic diseases such as spinal muscular atrophy for example, diagnosis can be challenging for primary care physicians.

Now that Orphan Drug status is commonly awarded to any treatment showing innovation and promise in these diseases, there is much more financial incentive for commercial organisations to take an interest in these areas. And many of these do. However, this is in itself causes difficulties because companies are then competing to enrol a limited pool of patients in their clinical trials; as one attendee at the conference described it – “No sooner is a new patient identified, we all gather like circling sharks to try and convince the patient’s clinician and family to enrol their child in our particular trial.”

However, clinical trials are not necessarily patient- or caregiver-friendly. With these rare conditions often requiring specialist healthcare monitoring within trials, parents in more rural areas may have to travel considerable distances, wait around (at the expense of their work, other children, homelife etc.) for long periods, then drive all the way home again only to have to repeat it again some weeks later. Parents end up exhausted, out of pocket from fuel costs and having to dine out, often needing overnight stays away – and in countries where health care is not state-funded, they may have to manage these costs too. And of course, parents are typically desperate for any chance to improve their child’s lot.

Some more enlightened approaches are helping families a little more – one of them is Point of Care Testing or POCT. In particular, this can be a very useful approach for screening any patients entering clinical trials – by taking the tests to the patient rather than the other way around. Not only does the pharma or biotechnology company save on the costs they may have to pay patients to attend clinics, they may also save time and money on patients that end up to be ineligible for inclusion in trials. The buzzword for these types of initiatives is “patient-centricity” – more about this in our next post.