CWWeekly presents this biweekly feature as a spotlight on issues that executives in clinical research face. This week, writer Suz Redfearn spoke with Juliet M. Moritz, executive director of the Strategic Development Department of Rare Diseases at the CRO Premier Research.

Q: How big is the area of rare diseases?

A: There are approximately 7,000 known rare diseases, of which there are therapies for about 300. As we’ve mapped the human genome, we are now linking disease states to genetics, which will help researchers develop more therapies for many of these conditions.

The FDA defines a rare disease as one affecting fewer than 200,000 people, and the EMA defines a rare disease as affecting fewer than five in 10,000 people. If you count everyone who has a rare disease diagnosis, it is approximately one out of every 10 people. While an individual condition may not be widespread or well known, more people than you think could be dealing with a rare disease diagnosis.

Q: You’ve said that patients with rare dis­eases are willing to accept more risk, and that legislators are starting to respond to that fact. Can you elaborate?

A: Patients with rare diseases have gener­ally been willing to accept more risk than patients with more prevalent conditions. Recently, the regulatory environment has shifted to be more inclusive of those patient views. In 2012, the FDA passed the Safety and Innovation Act (FDASIA), part of which addresses standardizing and beefing up how the FDA interacts with patient groups. In 2014, the FDA posted a document that received a lot of comments about how patient input into the research process in general could be improved for specific disease states.

Now, the FDA is in the process of develop­ing a comprehensive plan, working across organizations to standardize interaction with patients. I think we’re going to see a big shift in the impact that patient advocacy groups have on the development and approval process. I see changes being discussed at the FDA and the EMA that would make that input more welcome there, and provide some structure around how that input is gathered. I see the advocacy groups working to have a meaningful place at the table as well. Some of the more mature groups are already there, but some of the smaller groups are getting there now, too.

The patient groups are hoping to make new therapies available faster, but a big part involves making sure the research is designed to be meaningful to the patient population. It’s important to be an inclusive as possible, but not so inclusive that noise from multiple endpoints is overwhelming. Enrolling patients early in a disease process might not demon­strate a therapy’s true efficacy, while enrolling patients who are advanced in their disease may not demonstrate a strong benefit, and can possibly obscure the true effect. Trying to find that balance is very challenging.

Q: You’ve said changes in the regulatory space will be attractive to small biotechs in the future. Why?

A: In the European Union, the recent implementation of PRIME, the PRIority MEdicine program, provides extra support for applicants from academia, as well as micro, small- and medium-sized enterprises. By ap­plying for and being awarded PRIME designa­tion, those organizations have access to the EMA on the basis of compelling nonclinical data. That’s particularly helpful for those types of organizations because they generally have less experience with the regulatory framework. PRIME designation stipulates that they’ll have a dedicated contact, and more support like frequent interactions. The EMA believes that’s going to benefit small organizations that don’t have the in-depth experience that larger pharma or biotech companies likely have.

PRIME was developed along the lines of the FDA’s Breakthrough Therapy designation. The two programs share the same criteria: The therapy needs to target a life-threatening disease and demonstrate a substantial improvement over available therapy. In many rare disease cases, there is no other available therapy.

I think the Breakthrough designation has already transformed the space; there were over 300 applications for Breakthrough Therapy designations in the U.S. last year, and over 30 approved products had received Breakthrough designation since the incep­tion of the program in 2012. This is very im­portant to the rare disease community. Out of the 48 novel drugs that were approved by the FDA in 2015, 56% of them used one or more of the expedited regulatory review pathways and 22% utilized a Breakthrough Therapy designation.

This article was reprinted from Volume 20, Issue 21, of CWWeekly, a leading clinical research industry newsletter providing expanded analysis on breaking news, study leads, trial results and more. Subscribe »