Print BCTV: 200th Show -- Duchenne, chordoma patient advocates drive research, funding models

200th Show

Transcript of BioCentury This Week TV Episode 200




Pat Furlong, President and CEO, Parent Project Muscular Dystrophy

Josh Sommer, Executive Director, Chordoma Foundation




National Institutes of Health (NIH), Bethesda, Md.

National Institute of Neurological Disorders and Stroke (NINDS), Bethesda, Md.

National Heart, Lung, and Blood Institute (NHLBI), Bethesda, Md.

National Human Genome Research Institute (NHGRI), Bethesda, Md.

National Cancer Institute (NCI), Bethesda, Md.

U.S. Food & Drug Administration (FDA), Silver Spring, Md.

U.S. Centers for Disease Control (CDC), Atlanta, Ga.

U.S. Department of Defense, Washington, D.C.


Dr. Janet Woodcock, Director, Center for Drug Evaluation and Research, FDA

Dr. Francis Collins Director, National Institutes of Health

Dr. Michael J. Kelley, Professor of Medicine, Duke Cancer Institute

Sen. Roger Wicker (R-Miss.)



Steve Usdin, Senior Editor




STEVE USDIN: Impatient patients, advocates who are not waiting for the world to change. They're leading the search for cures.


I'm Steve Usdin. Welcome to BioCentury This Week.


NARRATOR: Connecting patients, scientists, innovators, and policymakers to the future of medicine -- BioCentury This Week.


STEVE USDIN: Starting with our first broadcast, BioCentury has put patient perspectives at the center of its coverage. Today, on our 200th show, we speak with Pat Furlong, the mother of two boys who were born with Duchenne muscular dystrophy.


Through a combination of determination, subterfuge, and fearlessness, Furlong has transformed the medical landscape for DMD. She's secured hundreds of millions of dollars in federal research that have resulted in a pipeline of promising drugs. She's helping change the way FDA regulates those drugs and pushing Congress for reforms to speed drug development.


When Josh Sommer was diagnosed with chordoma, a rare cancer, he joined a research lab at Duke to explore treatments. The frustrations and limitations faced by scientists led Sommer to co-found the Chordoma Foundation, where he's uniting and expanding the research effort.


I'm pleased to be joined by Pat Furlong President and CEO of Parent Project Muscular Dystrophy, the largest nonprofit focused on Duchenne muscular dystrophy. Pat, less than a week after your boys were diagnosed you went to the bank. You forged your husband's signature on an application and got a loan for $100,000. What were you thinking and what did you do with the money?


PAT FURLONG: Well I thought, once I have a diagnosis of Duchenne muscular dystrophy in two of my sons, and the prognosis was that they would lose all of their muscle function and die, I thought if I had money, I would at least understand the disease and maybe be able to buy a cure, if it existed. But I'd have enough money to search that out.


STEVE USDIN: So you went on a quest and spoke with physicians and scientists all over the country, maybe all over the world.


PAT FURLONG: I did, all over the world, actually. I went down to Cincinnati and I ordered -- because there was no internet at the time -- all publications relevant to Duchenne. I then looked at the authors of those publications and made appointments at their labs or their offices and talked about that I was a young postdoc looking for a job or I was a physician, and I wanted to understand the landscape, and what was there, what was known, what was unknown, and what I might do to change that picture for my sons.


STEVE USDIN: And ultimately, your sons passed away from DMD. But you continued. What led you to continue on this? A lot of people, I think, would have just given up then.


PAT FURLONG: Well, I actually wanted to give up. But there was a day in the kitchen that I was crying. And my son Patrick said to me, why are you crying? And I said, because I can't find this cure that I'm looking for. And he said, it's really not fair for you to cure some one person, or some two people, in our family. You would have to do it for many others. So, it was a promise made.


STEVE USDIN: And you created this parent advocacy organization. And you started out, like a lot of these groups do, doing bake sales and other things to raise relatively modest amounts of money. But then you went industrial on it, right? You hired lobbyists and you went to Congress.


PAT FURLONG: That's right. That's right. So our first idea was to do bake sales, to raise a little bit of money and get the experts together. So it took some time for us to convince experts in the field, in basic biology, to get together and talk to us. Because they thought we were crazy and desperate, which was true. But we also were willing to listen and willing to work with them.


So we got them together and we offered them small amounts of money so that they could characterize the disease. And we asked them to come to a conference and talk to parents about their needs. And so we began to gather parents. And along the way, one of them said, this will never work. Bake sales will never get this disease cured. You'll have to get government money.


And so in 2000, we went to Congress and asked how the system worked, met another father who had a child with Duchenne. And he introduced us to consultants or lobbyists. We hired them. And then we went to see a few members of Congress. And in particular, Congressman -- at the time -- Roger Wicker, said, let's write up a bill. And so we did. It was called the MD Care Act. And it was introduced in the House and Senate in 2001 and signed into law in December.


STEVE USDIN: And that bill unleashed really a large amounts of money for research, didn't it?


PAT FURLONG: Well, the bill was incredible. I think next to the cloning of the gene in '86, and the protein product in '87, that piece of legislation, first of all, notified the world that Duchenne was important. And over the course of years, $500 million has been invested by the NIH, the Center for Disease Control, and the Department of Defense in Duchenne and all the muscular dystrophies. So in fact, it galvanized the community.


STEVE USDIN: And so what were the follow ons from that research?


PAT FURLONG: The follow on from the research were several. One is that a research plan was developed to really characterize the disorders and identify targets for treatment. So that was one thing. The Center for Disease Control then developed standards of care. And those have been spread out internationally. So finally, we had a baseline of what kind of care would be optimal for Duchenne.


And that really galvanized industry. So at this moment, we probably have in Duchenne a several billion dollar investment, more than 14 companies developing drugs that have the potential to treat Duchenne.


STEVE USDIN: And there about what, 18 drugs that are in clinical trials today for --


PAT FURLONG: 18 drugs in the clinical trials today, with a pre-clinical pipeline that is equally robust.


STEVE USDIN: Compared to nothing before this bill was passed.


PAT FURLONG: Nothing. None at all, except corticosteroids.


STEVE USDIN: Well, we're going to continue the conversation in just a moment.


PAT FURLONG: The Duchenne community has traveled a great distance over the past 15 years, thanks in significant part to the leadership of this very committee. Far too many families, my own included, this journey has not been fast enough. We stand ready to work with your committee to make sure the 21st Century Cures initiative ends Duchenne and so many other rare diseases.


NARRATOR: You're watching BioCentury This Week.




STEVE USDIN: We're talking about patient and parent advocacy with Pat Furlong. Pat, to start with, I want to get on to some of the things that -- other things, amazing things that have happened as a result of this funding that you helped to get. But first, can you really briefly describe the life course of somebody with DMD.


PAT FURLONG: Sure. Duchenne muscular dystrophy affects 1 in 4,600 live male births. But it also has 1 in 4,600 carriers that are going to be unknown, because the gene gets knocked out as a new event. So 30% of the times this occurs, it's spontaneous in a family. It follows a very traditional course in terms of children are born looking normal. They're diagnosed between three and five years old.


They gain skills, although they're typically delayed. They peak in terms of ambulatory, or walking, at about between 10 and 12 years old. Usually are finished with ambulation or unable to walk by the age of 12. And then follow a pretty aggressive decline using noninvasive ventilation in their early teens and death in the 20s.


STEVE USDIN: And the things that your group has done in addition to looking, helping really propel the search for new therapies. You've also transformed the care of boys who have DMD, haven't you?


PAT FURLONG: We have. So we've done that in several ways. One is the Center for Disease Control really helped to stimulate the process by a very exhaustive process of looking at what is optimal care, what does it look like, and what does it mean? And recently we've embarked on a certification of clinics in the United States so that we can ensure families that they are providing the care that's recommended by the CDC. And just tomorrow, we start with the National Institute of Heart, Lung, and Blood to really drill down on the cardiac problems, because the heart is a muscle too, and it will fail over time.


STEVE USDIN: So you've also gone really into depth -- into minute depth -- into the drug development process and one of the outcomes of that has been your creation of draft guidance for the FDA. What prompted you to do that and what do you expect to happen as a result of it?


PAT FURLONG: Well as we saw this pipeline really become amazingly robust, and we felt like treatments are on the horizon -- not on the distant horizon, on something that we could feel and touch and see. So we had interactions regularly with -- and continue to -- with the agency, with the FDA. And during that time, one of the discussions we had was around benefit risk and we said to the FDA that the benefit-risk equation is different in Duchenne rare disease than it is in more common disorders. And they agreed, but they didn't have any quantified evidence about that.


So we embarked on a benefit-risk pilot and provided that data to the FDA. In that discussion, we also asked them about draft guidance and said, given the pipeline, given the benefit risk, are you willing to write guidance on Duchenne? And we were met with a negative. No, we're not going to write that. Because while it has a robust pipeline, there also 7,000 rare disorders. And we were meeting with Janet Woodcock in the Neurology Division. And Doctor Woodcock looked at us and said, why don't you write the draft guidance? And so we decided we would.


So we set out about writing draft guidance in January. We have now submitted it to the FDA. A docket was open to receive the draft guidance. And it was a comprehensive look at Duchenne today using published data. It's a very referenced document, and I think one that will help the Duchenne community in terms of arrive at consensus and certainly stimulate the FDA. And we now understand they are writing draft guidance for Duchenne.


STEVE USDIN: So you've prompted them to write this guidance. One of the things you said that has led you to do this was this notion that the benefit-risk equation for Duchenne is different than it is for more common diseases. Can you explain that a little bit more?


PAT FURLONG: Yes. Well, families with Duchenne muscular dystrophy live with risk and uncertainty. So they live with that every single day, waiting for the next shoe to drop, right? When a child loses ambulation. Then you worry the next day, he might need ventilation. Or you worry he might die. So there is inherent risk in having the disease. There is inherent risk in not treating Duchenne muscular dystrophy.


So we wanted to really demonstrate that in a quantifiable way. So we did a pilot of 120 parents and we asked them, what is your priority? What are you willing to risk? And they've demonstrated to us their highest priority was stabilization of the disease. So stopping progression.


STEVE USDIN: And that can then get translated into the parameters the FDA will use in evaluating therapies coming forward, right?


PAT FURLONG: Yes. We hope they include that in the review process. That the families live with inherent risk. That they're willing to accept risk. They're willing -- and that's very well defined in the pilot. So they're willing to accept risk for the opportunity to stabilize disease or stop progression of the disease.


STEVE USDIN: Pat, we've talked about your role in this. And of course you've really driven this forward, but you've also built up a community of parents here. Can you reflect on that a little bit? And also what your experience might mean for parents who are looking at other rare diseases?


PAT FURLONG: I can. So when Christopher and Patrick were diagnosed with Duchenne, there wasn't an internet. There wasn't an opportunity to connect with others. It was by random chance that I met other parents and collected them along my journey. But now with social networking tools -- whether that's Instagram or whether that's Twitter or whether that's Facebook -- you can gather your group together, whether it's a specific disease or a specific disability or a specific question in terms of medical care.


You can gather that community and you can have an active role in changing the landscape. You can have an active role in care. You can seek out the best medical care and treatment available. You can learn about what clinical trials are available and what other people think about those trials. You can learn about the burden of trials, what they experienced, how they managed to maneuver the process in terms of -- not the process of trial, but getting there and managing all of the other burden of a clinical trial. You can learn about new drugs. You can learn about new opportunities. You can join with others and raise money. You can advocate to the FDA about what's important to you.


So I think social networking enables an individual to raise his voice and be counted. And I think in rare disease and common disease, as human beings we want to be counted.


STEVE USDIN: So one of the other things that I wonder is, how do you interact with companies that are developing drugs or looking into developing drugs? And how do you do it in a way that doesn't compromise the integrity of your organization. How do other -- how can other organizations manage that process?


PAT FURLONG: Well we interact with lots of companies, both small bio-techs as well as big pharma. We interact with them by helping them advance drug development. We offer our resources in terms of our registry. We have 3,000 patients in a patient self-report registry. So we can help assist them in terms of recruiting for trials.


But we also help them develop their clinical protocol. And what outcome measures make a difference, and what parents and patients are willing to do. We can reduce the burden of clinical trials by providing money to sites so that those clinical sites can offset the burden of parents participating. We offer expert advice to companies. We don't own stock in companies. We don't accept money from companies. So we try to maintain integrity by being unbiased. And really, with the perspective of, we want all drugs that are safe and efficient to be available for these children so that they have options.


STEVE USDIN: Well thanks very much, Pat. Coming up, how Josh Sommer is working to speed the search for treatments for chordoma, a rare cancer.




NARRATOR: Now, back to BioCentury This Week.


STEVE USDIN: I'm pleased to be joined by Josh Sommer, co-founder and executive director of the Chordoma Foundation. Josh, 2008 you were 18 years old. You were diagnosed with chordoma. What is it and what's the prognosis? What did the doctors tell you?


JOSH SOMMER: So chordoma is a rare form of bone cancer. It can occur anywhere from the head all the way down to the tailbone. Unfortunately, beyond surgery, there really isn't an effective treatment for chordoma. And as a result, the average survival, at that time, was about seven years. So you can imagine, being 18 years old that was an enormous shock. And a real motivator to try to do something to improve those odds.


STEVE USDIN: So the first thing you did -- so you looked around the country to try to find out who was researching it. You were at Duke there. Where did you find them?


JOSH SOMMER: Quite coincidentally, right in my backyard. The only NIH-funded chordoma researcher, actually, out of all places, happened to be at Duke. He was a lung cancer doctor named doctor Michael Kelly. And he had an interest in chordoma that went back for several years. Both the genetics of chordoma, but also trying to identify ways to treat the disease. And that's the project that I latched onto when I joined the lab.


STEVE USDIN: So you worked in his lab. And what did you -- you quickly, what did you find out when you were working in the lab?


JOSH SOMMER: Well, first of all, I found the work to be tremendously fascinating. There was so much to take on. But I really quickly learned that there were some significant obstacles that researchers face in trying to tackle a rare cancer. We didn't have access to the tumor tissue that we needed. We didn't have access to animal models. We didn't have access to cell lines. And the couple cell lines that we did find actually turned out to be invalid.


So we got cell lines from Germany, from China, from Italy, from Canada. And when we got them all to the lab, it turned out that they're all behaving a little bit differently. They looked a little different. And that got me curious and caused me to investigate a little bit further. And lo and behold, only two out of the six cell lines that we found actually turned out to be valid chordoma.


STEVE USDIN: So that means that there were researchers all over the world who were producing papers and getting research published, claiming that -- and thinking themselves -- that they were doing research that was really related and in a downstream way could have led to a treatment for chordoma, and they were going down the completely wrong path.


JOSH SOMMER: That's exactly right. And that was a real wake up call for me. It made me realize that you could study chordoma all day long. You could publish papers all day long, and not actually make an impact on the actual disease. And that if we really wanted to have a chance of curing this thing, that my work in the lab could only take us so far. And that we really had to solve those sorts of problems that prevented researchers from studying the disease, that prevented meaningful progress from being made, and create the conditions to make it possible for more researchers to do high quality research in the field.


STEVE USDIN: So you and your mother started a foundation. And very quickly, you convinced the FDA to hold a meeting, right? To bring researchers from all over the world together.


JOSH SOMMER: We were very fortunate in that we are able to connect with Doctor Francis Collins, who at the time was the head of the National Human Genome Research Institute. And he quite fortunately took an interest in chordoma and helped us, along with colleagues at the NCI and the Office of Rare Diseases and the NINDS, organize the first international chordoma research workshop.


We didn't know what to expect. We didn't know who would come to a chordoma research workshop because there'd never been one. There'd only been a handful of researchers that were studying the disease. But much to our surprise, we got over 50 researchers to come. And I have to say, the atmosphere was just electric. There was so many new relationships being formed. So many ideas being thrown around. At the end of this conference, we walked away with essentially a list of priorities and a plan that had to be acted on. And that's really where the Chordoma Foundation has come in over the last seven years.


STEVE USDIN: And that's quite remarkable. You said there were over 50 researchers there. Because how many people are diagnosed every year in the United States with chordoma?


JOSH SOMMER: In the US, it's about 300 patients a year.


STEVE USDIN: So having 50 researchers who have an active interest in it, that's a remarkable ratio of researchers to people with the disease.


JOSH SOMMER: Yeah, it's funny that you mentioned that, because just recently we crossed the 300 researcher threshold. So we now know of over 300 researchers across the world who are in some way working on chordoma. We have an additional 300 or 400 physicians that are in some way involved. So there are now actually more researchers studying chordoma than there are patients diagnosed each year.


STEVE USDIN: So can you talk about some of the other things then, that you personally and your foundation have done to advance the research agenda?


JOSH SOMMER: Well, so the first thing we did is pull together a scientific advisory board to craft a research strategy. And that research strategy really has five components. The first and most critical is actually developing the materials that researchers need to study. So the things that I mentioned earlier, tissue, cell lines, animal models, assays, et cetera. That's really the foundation upon which everything else is built.


We have succeeded in developing a number of new cell lines. We've succeeded in developing a number of new animal models. We've built a bio-bank that now is approaching 100 tumor samples. And because of those reagents, because of those materials, we've been able to spur research in over 70 different labs. So we've distributed cell lines to about 65 labs now, including a number of different drug companies.


And simply by providing those cell lines and strategically and proactively finding researchers who have expertise that's relevant to chordoma, we've been able to jump start these 60 plus projects without actually providing a whole lot of funding.


STEVE USDIN: And the funding and how you're getting funding and what you're doing with it, I want to talk to you about that, right when we come back. We'll be right back.


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STEVE USDIN: We're back with Josh Sommer. Josh, I want to ask you about the funding. How much money has your foundation been able to raise? Where are you getting it from?


JOSH SOMMER: So we've about $5.5 million so far. The vast majority of it has come from patients and family members, those who care about patients. But increasingly, we're actually receiving contributions now from individuals who are interested in other rare cancers or who are just interested generally in improving the way that cancer research is done.


The reality is that there are hundreds of rare cancers. Together they account for a quarter of all cancer cases. And they're all facing very similar challenges. And so we view chordoma as potentially a test bed for solving problems that are relevant to other cancers as well. And we view part of our mission is to be a model or beacon, if you will, to help pave the way for other rare cancers as well.


And I have to say that we also have sampled and followed in the footsteps of several other successful rare cancer foundations. So increasingly, I think there's a recognition that investments in one rare cancer can actually pay off across the cancer research enterprise.


STEVE USDIN: So one of the things that you've done, which I think is really an amazing way to leverage your resources, was that you decided that more cell lines were needed for chordoma. And you didn't have enough money to go out there and just contract people to do it, so what did you do?


JOSH SOMMER: That's exactly right. So first of all, we actually didn't know who the right people were to fund. We had about $100,000 at that point to deploy. And that would have gotten us maybe one or two grants. The reality is, a lot of people had tried to create cell lines and a lot of people had failed. So what we realized was that we need a lot of shots on goal.


And we thought that the way to do that was to try to incentivize as many different researchers as possible to try their hand at creating chordoma cell lines rather than to place our bets on one or two. There was a very clear outcome. We had very clear criteria for what cell lines we needed and what we needed them to look like. And we've been quite surprised, pleasantly surprised, that the cell line prize has generated an enormous amount of interest. And now we're very close to reaching our goal of achieving 10 chordoma cell lines.


STEVE USDIN: So you created this prize where you basically said, if anybody meets your criteria, they're going to -- they can have $10,000 to pursue their work and that mobilized an enormous amount of effort.


JOSH SOMMER: That's exactly right.


STEVE USDIN: So I want to ask you, to bring it back to you. You said at the top of the show -- I'm sure people are wondering -- you said that the average patient's got -- when you were diagnosed, had a life expectancy of seven years. How are you personally doing? And do you have the sense that the clock is ticking?


JOSH SOMMER: I appreciate you asking. Fortunately, I've been healthy for eight years. And all my recent scans have been clean. So I don't think of there being a ticking time bomb, if you will, for myself. Although I certainly do recognize that the tumor could come back. And in fact, in most cases, does come back. So this is very much a personal mission.


But on a day-to-day basis, it's really -- what motivates me is the relationships that I've built with so many in the chordoma patient community and seeing people who I've become friends with become sick and then, unfortunately, all too often, succumb to the disease. I mean, that is a constant motivator and a constant reminder of why we've got to work quickly.


As far as prognosis, the latest numbers suggest that maybe we're up to eight years or so for average survival. But I'm very optimistic that that is going to improve substantially in the near future. In the next two years, we have six clinical trials in the queue. And over the next five years, we're developing a plan to initiate and support a number of more clinical trials. So our goal over the next five years is 10 clinical trials, compared to two that have been done in all of history for chordoma.


So I think there are a number of very promising treatment approaches. There are companies that have thankfully expressed a great willingness to partner with us. Oncologists that are ready to run the trials. And at this point, it's just up to us to provide the funding to make the trials go.


STEVE USDIN: Well, from what you've learned -- you were just thrust into this role. You didn't ask to become a patient advocate, you were thrust into this role. What would you say to other people who find themselves in similar situations?


JOSH SOMMER: I think it's an incredibly exciting time for biomedical research. In that people for whom cures matter most now have a great deal of power to help bring them about. In the past, really serious biomedical research was the domain of academic researchers, the NIH, drug companies. Individual patients, small groups of patients, now have the ability to have a real impact on driving a research agenda for their disease.


And increasingly, not only just supporting research in academic settings or through pharmaceutical companies, but actually taking on research themselves through contract research organizations, through actually, in-house research through patient organizations.



STEVE USDIN: Well, thanks very much, Josh. That's this week's show. I'd like to thank my guests, Pat Furlong and Josh Sommer. Remember to share your thoughts about today's show on Twitter. Join the conversation using the hashtag #BioCenturyTV. I'm Steve Usdin. Thanks for watching.