Rare Disease Report

Q&A with the Director of the Children's National Rare Disease Institute

JANUARY 23, 2018
Mathew Shanley
On January 11, Retrophin, Inc., a company dedicated to identifying, developing and delivering therapies to patients with rare diseases, announced a partnership with the Children’s National Health System in which it will donate funds toward the establishment of the Rare Disease Network.

Marshall Summar, M.D., director of the Children’s National Rare Disease Institute, sat down with Rare Disease Report to discuss the news and what it means for the rare disease community.

RDR: Can you talk about the recent news and why it’s so exciting for the rare disease community?

MS: The news is real exciting. This year is big for us on two levels; one is that we launched the Rare Disease Institute, which is a first-of-its-kind clinical home for patients with all these different rare diseases, and that was created in response to the fact that we can diagnose and treat more than we ever could before, Now, we have a whole generation of patients living much longer with a better quality of life, but they also need a medical home which is why we are providing the Institute. What’s really exciting about this announcement with Retrophin is acknowledging that this whole thing is an integrated ecosystem. We have pharmaceutical companies developing rare disease products, we have patient advocacy groups pulling the patients together and, in the middle, is the rare disease medical community where we are trying to diagnose and treat these patients.

Historically, it hasn’t been as well-organized as the other ends of the spectrum in between the patient advocacy and the developers of therapy, so what this really signifies is that we have to make that middle really work and actually diagnose and providing coordinated care for these patients; that’s a key component. Hats off to Retrophin for recognizing that not only is that good for the patients, but it’s also good for the business, too. The better the diagnostic criteria are, the better they run. To me, this is a neat thing. It’s a pretty altruistic idea because there are literally no strings attached, and it’s designed to provide good, high quality care, and high quality diagnostics to patients. I think that if they feel healthy, it’s good for everyone.

RDR: I assume that much of the feedback you’ve gotten is positive and everyone is pretty much on the same page.

MS: It has been. In fact, we are starting to talk to some other companies who are very interested in doing something similar. This has caused a lot of buzz across the board, particularly for those of us in the medical field. People have been working pretty hard and without some of the resources they need. This is a good first step in making sure we have the resources to really do the job well. Again, a lot of buzz has come from the pharmaceutical industry, too. Obviously, Retrophin gets a huge pat on the back for being the first one in, but we hope they’re not the last.

RDR: Is there any more detail you can provide in these other companies that are looking to hop on board or follow a similar model? What do you expect for the near future?

MS: What we did was we actually look at what our needs were. We anticipated that, to fully fund a program of this type, we were targeted to spend around $50 to 60 million across the programmatic spectrum, and that’s the cost of providing clinical teams, training programs, and a whole new generation of digital medicine for patients. For instance, we spend a lot of time on facial recognition program, and apps where community physicians can form opinions and access fast information about rare disease cases. We’ve also done a lot of work in measuring devices for bloodwork for patients, so, patients can be managed at home as opposed to having to come in.

RDR: Would you mind going into the uniqueness about what is happening, and what the impetus was behind the idea, considering nothing like this had been done before?

MS: Like, I said there are a lot of people who take care of rare disease patients. If you go with the NIH (National Institute of Health) patient number, it’s 8 to 10% of the population, which is about 30-million people. What we really focus on are those folks with genetic rare diseases who don’t have a medical home. So, what’s the impetus for that? Well, if you use a couple of examples – take cystic fibrosis for one – the survival rates back in the 80s and 90s were in the teens. Now they’re in the 30s or more. New therapies are coming in all the time. Down syndrome in the 1980s is another one where life expectancy was in the mid-20s, now it’s in the 55-to-60 range.

So, what happen is with the increase in diagnostics, the increase in therapeutics, the recognition of these patients, we’ve now created a whole group of patients that literally did not exist before. They either passed away or they were just lost in the shuffle and didn’t go very well. This is a response to the old “if you break it you buy it.” So, we created this problem with all the good DNA diagnostics we have now, getting all the therapies we have, and there is a responsibility in the field to take care of these patients. When I started medical genetics in the 80s, that was all we could do. Now a clinical geneticist is almost in every field.

RDR: Can you go further into NORD’s role in all of this? They just have such an impact across the board when it comes to the rare disease community.

MS: I am NORD’s board chairman currently, and I have been doing that with NORD for years. NORD has always been the stable background, and the rock for the rare disease community. Since it was founded around the same time the Orphan Drug Act in the early 80s, NORD has been incredibly strong in patient advocacy. It’s done a ton of work and really set the standards for everyone else. What I’m hoping this will do is drive some of the behavior to academic centers. I hate to use the term everyone likes a sticker, but people like stickers. The NORD sticker will mean a lot because it’s hard to get; it means you have an incredibly wide range and depth of service so patients can go to one of these services with confidence knowing they have the things they need there, but will also drive behaviors of the institution. Say the institution has almost everything need, except a few services, they’re going to be incentivized to add those to the mix which will benefit the patient. So, we will get some standardization of what is available around the country at these different centers. The other thing we’ll be doing is the sort of next way is specialty centers for particular diseases. It’s part of a very exciting program, and while we may be the first, we will not be the last by any stretch of the imagination. It will certainly bring it into the 20th century.

RDR: Obviously, you’ve been so immersed in the space for so long. Are there any personal experiences or hardships you’ve had working in rare disease that you think that these new steps that you’re taking will help alleviate them?

MS: Absolutely. If you’ve lived long enough, you see things. One thing that happens given the current medical economic model, it’s very hard to run a genetics or rare disease clinic with a positive margin. That’s why they’re typically embedded in large medical centers. The patients who come to drive down strain revenues so they don’t directly affect the margin but it’s hard to get top end resources so that you can have good care coordination. You can have neuropsychology, you can have the nutritional support services, all of these things are important. That’s one of the reasons why the Retrophin gift was so important to us even though, financially, we don’t run an accessor where we can support those things. Using this philanthropic gift, we can actually do a lot of things we couldn’t do before; that’s one thing that comes up. NORD is working on some really, I think creative steps, to help patients and their families out with that long term. In the meantime, we go back and forth with payers over what should be covered and what’s actually needed in this fluctuating marketplace. So those are some of the biggest challenges is getting things paid for, just to put it rather simply, is always a big challenge.

One thing we’re trying to do is we’re still trying to work with an old model. Patient schedules an appointment, patient comes to a waiting room, patient goes back to a room, waits for the physician counselors, they come in, and then they go home. That’s fine, and that’s actually needed for a lot of families, but not for all of them. One thing we are working towards, particularly in the rare disease institute, is using technology to evaluate families early, see if they need to come in and see if there’s testing that needs to be done when they come in to increase the value of the visit or see if the visit is even needed.

The other thing we’re doing is working with remote centers. For instance, patients with nitrogen metabolism defects, we developed a home monitor for patients that we hope will come out in the next year or two. So ,instead of driving three or four hours to a hospital to check out if they have pneumonia, which they may or may not need to do, they can do it in the home, away from infection in the emergency room in the hospital. A lot of these things that I think will improve quality of life and, I think streamline care.

RDR: What’s the bottom line in all of this?

MS: I think the things that are really going to be coming up are how do we act with the next generation of therapies. We’re still using that old models around the FDA and I think the FDA has shown a real willingness to see how do we do rare disease better. For instance, I’ve worked on approvals where there were only five patients. But that wasn’t a population sample, that was the population. So how do you actually adapt to clinical trials and clinical trial design to these things? I’m very encouraged about things that are going on with the FDA. The other thing is that we are waiting for things to come. If you look what’s going to be happening with some of the personal medicine or precision medicine or you can take your pick on what you want to call it. Many times, we are taking common diseases and breaking them down into rare sub categories. Breast cancer has over 30 molecular subtypes, some types of breast cancers turn into rare diseases. The lessons we’re learning from taking care of these patients and developing therapies actually become quite relevant to these common fields of medicine. I say we look at what the future may be bringing in some ways.


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