Rare Diseases and Translational Research: Synergies Speed Development

Marshall L. Summar, MD; Petra Kaufmann, MD, MSc


February 24, 2016

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Marshall L. Summar, MD: I'm Marshall Summar. I run the clinical genetics program at Children's National Medical Center. We're here at the National Organization for Rare Disorders (NORD) 2015 Summit in Arlington, Virginia, and we're talking to some of the leaders in the field of rare diseases for Medscape.

It's my privilege today to have Dr Petra Kaufmann from the National Center for Advancing Translational Sciences (NCATS). She is the director of the Division of Clinical Innovation and is newly named the director of the Office of Rare Diseases Research (ORDR), which is why we're talking. Petra, thank you so much for taking some time to visit with us today.

Petra Kaufmann, MD, MSc: I'm delighted to be here, and it's a great privilege to now also be able to focus at NCATS on rare diseases. As you may know, NCATS is the newest center at the National Institutes of Health (NIH) and is really focused on bringing more treatments to more patients more quickly. We are all about making this promise of biomedical research and translation into a reality and, in turn, into health benefits. Nowhere is that more important than in rare diseases.

At The Forefront of Translational Science and Rare Diseases Research

Dr Summar: We are pretty excited in the rare diseases field to have you in this leadership role. You obviously are an accomplished scientist in the field already, and a clinician as well.

I'm particularly intrigued by combining the roles from the Division of Clinical Innovation, which actually runs and works with a lot of the Clinical and Translational Science Award sites, and this new role with the ORDR. Where do you see the overlap between translational science research and rare diseases?

Dr Kaufmann: I think there are great opportunities and synergy is possible, because not only are all diseases increasingly becoming rare diseases as we look at subpopulations, but also the issues are very much the same. In terms of accelerating the process to getting from discovery to better treatments, we need to have the right kinds of outcome measures. We need to have very efficient and streamlined processes so that we can have the high-quality data that are so desperately needed to actually make a difference.

I think the issues are all the same. For us at NCATS, I think it's a great opportunity working with the investigators in this Clinical and Translation Science Award program, but also the rare diseases investigators, to bring these two programs together synergistically.

Dr Summar: Like I said, it's very exciting for us. Obviously there are a lot of new trends in personalized medicine. One of the things we speculate is that as we subdivide common diseases into smaller and smaller groups, they start to look like rare diseases. Would you comment on that a little bit? Do you think that's a trend we should keep an eye on?

Dr Kaufmann: That's exactly right. I think that's a very important trend, so that the two fields can cross-fertilize where we can have lessons learned from each of them.

There are unprecedented opportunities right now. I think the revolution in genomics, the advances in data technology, and our increasing understanding in how to best engage patients very actively in research really can make a difference and can drive what you're getting at—which is the fact that we now have this increased understanding of how to try to find a treatment specifically for a subpopulation or for a rare disease population.

I think we are in a great moment in time. It's so important that we engage patients, clinicians, and scientists and bring them all together—no matter whether it's a rare disease as defined right now, or whether it's one of these subpopulations of diseases that we now call common but, as we better understand them, we learn that it's really a basket of many different etiologies.

Advancing Rare Diseases Research Through Registries and Natural History Studies

Dr Summar: So, rare diseases actually kind of helped lead the way in developing that toolbox.

You touched on something, and obviously you and I have had a lot of discussions about registries and their importance. That's also a key place for patients and families to participate in research. Can you elaborate a little bit on where you see the trends going in patient registries or natural history studies? When we talk about registries, we often are referring to a longitudinal collection of data around a particular disease, in case you're wondering what that term meant. Could you elaborate on where you see those trends developing?

Dr Kaufmann: We have tremendous opportunities now to fulfill some of the promises of the discoveries of genes and disease mechanisms. If we do it the way we've always done it, it's too slow. We have thousands of diseases. If it takes us many, many years to get there every time, we just can't meet the great needs that are out there, especially in the rare disease communities.

So, how can we do better? How can we accelerate the process? How can we catalyze this momentum? One of the important ways of doing that is through registries, meaning that we know where patients are and we have some basic information, such as what kinds of symptoms they have, their age, and so on. That sets the stage for successful therapeutics development.

However, this requires the engagement of patients and many patient groups, which have been very active in this area and have been instrumental. It also requires the collaboration and interest of clinicians. Clinicians are stretched so thin these days, trying to function in the healthcare system—but if they want to do something for their patients with rare diseases, and if they are really at a loss sometimes as to how to help their patients and want to advance therapeutics development, then this is something they can do. They can refer patients to registries and natural history studies, so that then for a particular indication, a treatment is on the horizon—and at that point, we will have the information we need to evaluate that treatment, by knowing where the patients are, what kinds of patients they are, and how their disease manifests itself and progresses. That's how you can set the stage, as you well know, for a successful therapeutics development.

Dr Summar: We are seeing more and more of these registries and natural history studies in which the patients themselves are taking ownership of putting the data in. Now there's a joint project between NORD, the NIH, and the US Food and Drug Administration (FDA) around that. And there are a number of other projects, including the Rare Diseases Clinical Research Network, which you'll be keeping a close eye on.

What are some of the successes you'd like to highlight from the programs that have come out? Is there anything in particular that stands out?

Dr Kaufmann: I think that one of the successes is what you alluded to: the very active engagement of patients, which is one of the contributions of the Rare Diseases Clinical Research Network. Every single one of these networks has a patient group actively involved from the beginning.

We now also try, with something we call the Coalition of Patient Advocacy Groups, to help the patient groups exchange best practices and lessons learned. I think that's one of the great opportunities for us to have the patients, the communities, and other stakeholders as active partners.

Resources Available From the Office of Rare Diseases Research

Dr Summar: The other thing that's obvious is getting good information into the hands of clinicians and patients. I've always found the Office of Rare Diseases Research to be a wonderful source for that.

What are the resources on the Web? What are the websites that people can go to?

Dr Kaufmann: One of the great resources is called the Genetic and Rare Diseases (GARD) Information Center. This is a wonderful resource where patients and the general public can go and look for information on rare diseases or genetic diseases. They can go to the website, but if they have further questions, they can call in or send an email. We actually have genetic counselors and a physician available who can help with referrals and answer questions.

Dr Summar: That's a great resource.

I really appreciate you taking your time to visit with us today. Do you have any closing thoughts?

Dr Kaufmann: I think that the key is the collaboration of all stakeholders: the patients, the government regulators, and the clinicians. As a take-home message, when we deal with rare diseases, we should all encourage our patients and ourselves to engage in research, because research is the way that we can get more treatments to more patients more quickly.

Dr Summar: This is Marshall Summar for Medscape, from the NORD summit. As a user of the NIH's Office of Rare Diseases Research website, I would highly recommend you go check it out. You'll learn a lot of things that you may not have known that can benefit your practice.


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