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A Rare Disease Perspective from Industry

By October 7, 2010December 5th, 2023Awareness

Ed. note: This is the fourth post by Dr. Kim Hunter-Schaedle recapping the Conference on Clinical Research for Rare Diseases to see the first post please click here.

Industry has visibly taken a much greater interest in rare diseases in the recent past, with a few large pharmaceutical companies declaring intent to establish new programs in rare disease. This is in part because for many rare diseases the biology and pathology is now much better known, which will reduce development costs and give companies a more hopeful shot at determining drugs that might act on these diseases. Academic researchers should look to industry to partner with them in rare disease trials, and should aim to secure resources, commitment, expertise and dollars from industry.  In vetting companies for partnership, academic researchers should look for those with an established track record on interest and preferably success in the area of rare diseases.

One of the greatest challenges for rare disease trials is that for many of these conditions, and something on the mind of industry as they approach rare disease, is that there is as yet no defined and widely used standard of care; and this makes it difficult to validate endpoints for interventional clinical trials, and in particular to define anticipated long term outcomes.  Industry recognizes that for chronic rare diseases, a lot of the information that is most useful will probably come from Post Market Analysis (PMA) studies, i.e. those done once the drug is on the marketplace and being widely used over a long period.  Having endpoints that can be used to determine whether or not a drug is effective will be vital in order to get FDA approval. And in diseases with multiple manifestations, which symptoms should be targeted? (in short those that are most severe for the patient).  Looking forward it is anticipated that for many trials surrogate (e.g. biomarker) endpoints may be used; though there may be additional up-front costs involved in order to validate these surrogate endpoint, these will open the way to shorter trials that give an earlier result and cost less.  From an industry perspective, biomarkers are viewed as better than e.g. imaging as endpoints, as they will be easier and cheaper to collect.

One issue that is definitely on the mind of industry is reimbursement and whether a drug will be approved by coverage from insurance.  Interestingly, some international countries are ahead of the US on this, such as the United Kingdom where there is socialized healthcare and the overseeing body, NICE,  determines upfront if a drug will be paid for by insurance or not.  Issues of reimbursement are forefront for industry from the earliest stage of a product’s development.

Next: Considerations for Rare Disease Clinical Trials

For more information visit the Conference website (