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Clinical Development

How important is patient-centricity in rare disease studies?

  • September 6, 2017
Patients in a Waiting Room

Author: Richard Scheyer, MD, Vice President, Medical Affairs, Neurology

Patient-centricity is becoming increasingly important in all areas, but particularly in rare diseases. The patients are by definition rare, and it’s important that we nurture our relationships with the patients to have the best understanding of their experience and then integrate our knowledge of the disease biology. They are able to tell us what it is that matters to them — Is it the symptoms that we think are important, or are there other symptoms that are actually most important? The patient can guide us in the right direction. They can also help identify the hurdles to participation in a study. They can educate us even beyond that, particularly working with advocacy groups to conduct natural history studies and registries to learn the evolution of disease and symptoms over time. For example, what are the things we should expect in the course of our clinical trial? They can help us identify what to measure, when to measure it. They can also help us develop patient-reported outcomes if necessary when we cannot utilize the established scales, and that’s very often the case when we are looking at rare diseases, where the symptomology and the endpoints may not be the same as for established indications.

What are the benefits to customized studies versus a one-size-fits-all trial?

It’s easy to implement a one-size-fits-all study, where we understand what we should be measuring, and have pre-defined procedures and modules. But when it comes to a novel disease, often those elements don’t fit. We may need to be measuring other things that we may already understand well, or it could be novel endpoints.

In rare disease clinical studies, we need to be able to leverage every bit of information that we can. We may need to use novel study designs that incorporate some of the natural history data that we gathered previously, or data from previous studies, merging these data with our clinical study to make it more powerful than it would be otherwise. Clinical endpoints are another area to consider as biomarkers that may not be important in registration studies in a traditional disease, may be of greater importance in rare diseases where we need that confirmation of biological activity to support what may be an underpowered clinical endpoint. At the other end of the spectrum, if we have the patient reported outcomes, these have particular importance in these diseases where the patient experience is of paramount importance.

Why is it important to connect with key investigators?

Investigators who are interested in rare diseases can be a rare commodity and should not be taken for granted. Unlike the typical trial physician, the clinical investigator in rare diseases is often also the patient’s treating physician; they are the advocate for overall well-being of the patient and the family. They are also our eyes and ears to what’s going on in the field, and they are the pathway to having our greatest understanding of what is happening to the patient in our study—what they’re experiencing, and what our drug is actually doing. Investigators are also our key advocates moving forward. They will educate the physician community, both by their presentations and by their manuscripts, as well as join with the patients, meeting with regulatory agencies and third party payers to demonstrate the benefits of the therapy for these under-served patients.


HEAR MORE: I spoke with the editor of PharmaVOICE on the the importance of patient-centricity in rare disease studies, the benefits of customized studies, connecting with key investigators, and the increased interest in rare diseases. You can watch the interview here.