Big data will never be an option for rare disease research. By definition, rare diseases affect around 620 people per million. Ultra-rare diseases may affect as few as 1 in a million. When you have a tiny population, scattered across the globe, how can you hope to find enough clinical trial participants to demonstrate efficacy and safety?
Regulators understand the challenges inherent in rare disease research and are willing to make allowances for the lack of big data. But they still expect data sets to be broad-based.
Why Broad Data Sets Are Essential
When regulators consider whether or not to approve a drug, they want to be sure they get a full picture of the risks and benefits for all patients who are likely to use the product, not just a small subset. Differences must be reflected in the label to help doctors prescribe and use the drugs appropriately across different populations.
There can be important differences in how diverse groups of people respond to treatment. Genetics can definitely play a role, especially in rare diseases which are often inherited.
But researchers are also finding that the relationship between genetics, environmental and socioeconomic factors and cultural practices is complex. Where you live can make a difference. For example, researchers have found that South Asians who live in urban areas or migrate to the UK are at higher risk for cardiovascular disease and diabetes.1 This could be due to dietary and lifestyle changes. But it may also be influenced by gene-environmental interactions.
Broader Data, Better Insights
As countries become more diverse, there is a growing recognition by regulatory bodies, of the need to find ways to broaden our data sets and create more representative samples.2 Clearly, we have a long way to go. A recent study3 of all FDA oncology approvals between July 2008 and June 2019 found that fewer than 8% of cancer drug trials reported participation from the 4 major races in the US (white, Asian, black and Hispanic).
The study’s lead author, Dr. Jonathan Loree, assistant professor in the University of British Columbia’s department of medicine, noted that broadening the data sets may lead to important discoveries. He described a study of medication used to treat lung cancer that showed mediocre trial results in the global population, but remarkable success with young women who had never smoked in a study in Asia. This was due to a genetic mutation in that population.
How Can A Managed Access Program Help?
Managed access is an important path to creating broader data sets that is often overlooked by orphan drug developers. Compassionate use helps patients, while providing your company with a window into how your drug might perform in a wide variety of populations.
A well-designed managed access program offers important business intelligence on efficacy and safety in populations outside of the narrow ones included in your clinical trials. This can open the door to new indications and potential new global markets. It can give you the business case for expansion, with lower investment and risk.
It’s not only the right ethical choice. It’s also good science and good business.
1. Type 2 diabetes and cardiovascular risk in the UK south Asian community. https://link.springer.com/article/10.1007/s00125-006-0325-1
2. Enhancing the Diversity of Clinical Trial Populations – Eligibility Criteria, Enrollment Practices, and Trial Guidance for Industry. https://www.fda.gov/regulatory-information/search-fda-guidance-documents/enhancing-diversity-clinical-trial-populations-eligibility-criteria-enrollment-practices-and-trial
3. Study Finds Lack of Diversity in Cancer Drug Clinical Trials https://www.baylor.edu/mediacommunications/news.php?action=story&story=211981