Paul Melmeyer on How Therapies for Rare Diseases Present Challenges to Value Assessment

Therapies for rare diseases, such as gene therapy, pose very unique challenges to value assessments in a variety of different ways, explained Paul Melmeyer, director of Federal Policy, National Organization for Rare Disorders.

Transcript

How do therapies for rare conditions, such as gene therapy, present unique challenges to value assessment?

Therapies for rare diseases, and especially gene therapies for rare diseases, pose very unique challenges to value assessments in a variety of different ways. For one, the values that therapies for rare diseases, again in particular gene therapies, actually bring to rare disease patients are very unique, and that can be challenging for health technology bodies to actually incorporate these values into their assessments because they can be very unique, they can be very hard to quantify, they can be hard to reach because rare disease patients are scattered, they’re difficult to often times to bring in to a conclusive and a methodologically robust way, in a sense, within a value technology assessment.

So, because of this, it can be very challenging for HTA [health technology assessment] bodies to actually incorporate patient viewpoints within rare disease and gene therapy evaluations, and that’s just on the patient viewpoint side of things. Of course, it can be very challenging on the actual methodological side of things when it comes to rare diseases because of, again, the small patient sizes. So, it’s more difficult to conduct an empirical study, as well as some other methodological challenges that come along with the small sample sizes that rare diseases bring. So, a variety of different challenges in assessing rare disease therapies, specifically gene therapies.