Why is it so hard to cure a rare disease?
In 2010 the Institute of Medicine released a report entitled Rare Diseases and Orphan Products: Accelerating Research and Development, in which they outlined the challenges associated with curing a rare disease. Namely, there are many rare diseases (greater than 7000), and they are all competing for funding and attention; because each rare disease affects a small number of patients, it can be hard to attract interest in pharmaceutical development for that indication; and because those rare disease patients are few and often spread out across the country, it is hard to enroll them in clinical trials in large numbers.
While each rare disease affects a small number of people, collectively 350 million people worldwide suffer from rare diseases – more people than live in the United States. Developing new methods to approach the problem of curing rare disease is critically important for improving human health.
In the case of Primary Sclerosing Cholangitis (PSC), this problem of how to cure a rare disease is compounded by our lack of understanding about what causes it. We suspect PSC is a multifactorial disease, and the process for teasing apart genetic versus environmental versus other risk factors is difficult – more difficult than figuring out a disease caused by a single genetic mutation or a single pathogen.
The solution to this problem of how to make progress with a complex rare disease like PSC is coordinated, strategic teamwork. The good news is that we have powerful 21st century tools for approaching a problem like PSC, including omics techniques, artificial intelligence and machine learning, and ever increasing connectivity for sharing data and ideas and getting patients into multi-site nationwide trials. This month, following on the heels of an exciting and dynamic meeting of thought leaders in PSC that was held at FDA March 3-4, we’ll be sharing with you some initiatives that aim to address these challenges associated with problem solving in rare disease.
Read more in The Road Forward in PSC: Part 2 of 3