Collectively, rare diseases are anything but rare. Combined, they represent a huge market; one that has been a major focus of interest and investment from the biopharmaceutical industry ever since the US Orphan Drug Act offered financial, legal and legislative incentives back in the 1980s.
There are over 7,000 known rare diseases, and over 30 million people living with a rare disease in Europe alone. Today, treatment exists for only 200–300 diseases. The scale of the potential – both for patients and for the industry – is huge.
So, what’s the drawback? Well, there are a few. Some payers have become increasingly concerned at the increased market share of high-price orphan drugs, and now often seek to curb access or put more hurdles in place. Pricing and access can vary considerably between countries in Europe as each government decides the terms of reimbursement and prices that companies are allowed to charge.
Most rare diseases have been inadequately studied in the past, making clinical study design and execution challenging. The management of the patients themselves – who often have a reduced quality of life and, in some cases, limited life expectancy – requires sensitivity and careful management.
And crucially, there are challenges working in diseases with such few patients, who are often located over wide areas. In Europe, a rare disease is defined as a condition that affects fewer than five per 10,000 inhabitants, and is fatal or severely debilitating. Even in major European countries that have over 50 million inhabitants, this still means a total patient population of just a few thousand.
Identifying these patients – particularly for orphan drugs that are the first effective treatment for a rare disease – can be very difficult. By necessity patients are usually sent to a few specialist centres, meaning there are generally a few ‘cluster’ centres to focus on, but the lack of publicly available hospital procedure classifications and case numbers makes it difficult to identify these centres. Biopharmaceutical companies are left with no choice but to engage with healthcare centres and professionals on the ground to understand patient pathways, which can be time-consuming and costly.
