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Local Scientists Creating Hope For People Diagnosed With Rare Diseases

Local Scientists Creating Hope For People Diagnosed With Rare Diseases
What are San Diego scientists doing to find cures for some of the world's rarest diseases? We speak to KPBS Reporter Tom Fudge about the local efforts taking place at the Sanford Burnham Institute to find treatments and cures for "orphan" diseases.

What are San Diego scientists doing to find cures for some of the world's rarest diseases? We speak to KPBS Reporter Tom Fudge about the local efforts taking place at the Sanford Burnham Institute to find treatments and cures for "orphan" diseases.


Tom Fudge, KPBS Reporter, and author of the "On-Ramp" blog on

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This is a rush transcript created by a contractor for KPBS to improve accessibility for the deaf and hard-of-hearing. Please refer to the media file as the formal record of this interview. Opinions expressed by guests during interviews reflect the guest’s individual views and do not necessarily represent those of KPBS staff, members or its sponsors.

MAUREEN CAVANAUGH: If you have a disease shared by millions of people in America, you can at least feel safe in the knowledge that your illness is getting a lot of attention, doctors are searching for a cure, drug companies are working on medicines. But if you have a disease that's shared by only thousands or perhaps only hundreds you've got an additional problem on your hands trying to stimulate the research [CHECK] are taking on the challenge of rare diseases. KPBS reporter, Tom Fudge, author of the blog, on-ramp, is here with me. Good morning Tom.

FUDGE: Hi, Maureen.

MAUREEN CAVANAUGH: So what's the definition of a rare disease?

FUDGE: A rare disease, also known as an orphan disease, that's kind of lingo what's come about to describe them, is a disease that inflicts 200000 people in the United States or fewer, and I heard this from a pretty good source. A guy who was director of the office of rare disease research at the nation institute of health who was in San Diego about a week ago for a symposium on this subject. So 200000 people is the limit, if it's that or under, it's a rare disease.

MAUREEN CAVANAUGH: So are we generally talking about people scattered around just getting these rare diseases or do they seem to affect certain genetic lines and people -- that sort of thing.

FUDGE: Well, you kind of said it. A lot of these rare diseases are genetic diseases. Of and so they're inherited from parents who may carry a couple of the same genes that together will make their child have this rare disease. It's interesting because one of the diseases we're gonna be talking about today is called hypophosphatasia, HPP, which afflicts about one in 100000 people in the general population. But there are some small Mennonite communities where it afflicts one in 2500 members of those populations. And you can understand why. If it's genetic, this should intermarriage and a bit of inbreeding in some of those communities.


FUDGE: And so the genetics pass along more easily.

MAUREEN CAVANAUGH: And you met a little girl [CHECK].

FUDGE: Yes, Morgan fisher is her name, and she and her parents live in San Diego. She's a little blonde girl who looked very happy, very typical five-year-old girl. But she's not typical physically, she has lost her teeth, she has a set of false teeth. She walks with a little bit of a sway, and she has HPP. What HPP is, a lot of people have described it as a genetic form of rickets. Rickets is what Tiny Tim in the Christmas Carol had, and it causes your bones to soften. In the case of rickets, it's called by Vitamin D deficiency. But in the case of HPP, it's inherited, it is a genetic disease. It is very deadly, very often children who are born with HPP don't even survive being born. So in a sense, Morgan fisher has been a miracle child, that was the expression her mother used, simply because she survived. But also, another miracle has come their way, and that is it a new medication that really seems to work for HPP.

MAUREEN CAVANAUGH: What medication is she receiving?

FUDGE: It is -- well, I got the name here some place. It's a long Latin name, and I'm not gonna try to repeat, but it is a medication developed by a company called Enobia-Pharma, [CHECK] in San Diego, and it has not been approved for marketing. It's not ready for the market. It is in trials. But Morgan is bon of the kids who is involved in the trials, and apparently, well, this drug seems to work. In fact, I asked her mother about it, and why don't we hear a little bit from Catherine fisher and what she has to say about the effect of this drug on her daughter's rare disease.

NEW SPEAKER: Morgan has had five doses as of today. And a lot of the kids have this waddling gait. Her gait is changing, her stamina is changing, her appetite is changing. And I don't even wanna, like, go there, but within five doses, it literally -- we are seeing differences.

FUDGE: And I think you probably know what she means when she says I don't want to go there, because she's in -- probably a couple of years ago, she wouldn't have thought in her wildest dreams that her daughter could be cured, actually, but now she really has Hoppe because of this medication.

MAUREEN CAVANAUGH: So you spoke to researchers at Sanford-Burnham medical research institute. What are researchers there doing to develop drugs for rare diseases like HPP?

FUDGE: Well, they're doing lab work with mice. It's always nice doing lab work with mice because [CHECK] but pure science is very important to developing rare disease medications, and very often it's caused by serendipity. You happen to be working on some kind of disorder, and then suddenly you realize, oh, well, it work enforce this one too. One guy that I talked to who is at Sanford-Burnham institute is a guy named Jose Millán. He's that Argentine guy, he's very short and very elegant and natty, he's kind of a character. But he's a very dedicated scientist, and he has been working on, zyme for, he says, about 35 years, he's been focusing on this one enzyme. And this is either the enzyme -- I believe it's the missing enzyme that kids who have HPP don't have. And he was doing work in the lab on mice and suddenly he got together -- he heard that there was this group of scientists in Cambridge Massachusetts who had developed a drug replacement, an enzyme replacement therapy, and he got together with them, heave had the mouse model, he tried it on the mice and it appeared to work. And now, as a result of that, this drug that cures -- that my cures HPP is in trials. And why don't we hear just a little bit from Jose hi-Jan? Here he is.

NEW SPEAKER: Personal enough, here we had a disease model, that perfectly imitate the human condition, in need of treatment. So we found a way of now fixing the problems in humans as well. So it's a natural progression of the thought process.

FUDGE: Why is this important?

MAUREEN CAVANAUGH: Well, because there are kids that would have died without this treatment, and now they're alive.

FUDGE: I guess that kind of says it right there [CHECK].

MAUREEN CAVANAUGH: Yeah, now, in doing this report, you documented stories that seem hymn as if they come out of a TV show, you know, where research -- people were researching some drugs sort of like putting themselves in trials and then racing these drugs to kids and patients who are literally on death's door.

FUDGE: Yes, I have one story to tell about this, I mean, we're leaving at this point the story of HPP behind because this is -- this disease we're going to talk about is also a rare disease, and it is a failure to thrive. I talked to a guy at Sanford-Burnham institute [CHECK] and hut is this big guy from Indiana, he has a sort of big presence in the room, he cracks jokes he tells stories, but he also has been working on a series of diseases whose name escapes me. But he had written a paper about the way -- the application of a simple sugar called mannose when infused into cells can have a very positive effect. Somebody read this paper a couple days after it came out, I don't even know where they were, but it was a doc who was dealing in the emergency room with a kid who was dying. He had lost many units of blood. He was on his way out. And this guy called had you had freeze, and I said I understand you're working with this mannose. Of I've got a kid here who's dying of I'll do anything. Of and so had you had frieze said, well, mannose which is just a simple sugar, you don't necessarily need to have a drug here, he said, well, give him mannose, just let him drink it, have him take that much and this much. Didn't hear anything for about three months. But eventually he got a call from this doctor who said the kid's fine.

MAUREEN CAVANAUGH: That's amazing. Now, you know, we talk about this, and you talk about pure science, and you talk about only maybe 10000 people in the word who have been diagnosed with rare diseases. Does that make drug companies less likely to invest in finding a four for an orphan disease.

FUDGE: That's a good question. And [CHECK] obviously pure science gets you only so far. Eventually, if you have developed some kind of compound which may be a promising drug, somebody's gotta take it to market. Somebody's gotta get FDA approval, somebody's gotta go through all the trials. This is an extremely long and extremely expensive process. So if you're a drug company, you gotta say to yourself, well, am I gonna make any money on this? And if you've got such say small number of customers as you do in the case of rare diseases, it's a very good question. If you are making something like Viagra or Lipator that a huge number of people actually want to use, then you've got a big volume. You've got a very small volume if you're dealing with a rare disease. But there are ways in which rare diseases can make money.

MAUREEN CAVANAUGH: Make money for the pharmaceutical companies.

FUDGE: Yes, for the pharmaceutical companies. The drugs do have to be expensive. I talked with a pharmaceutical company called bio-Marin, [CHECK] $41,000 a year, and $400,000 a year for each patient. Now, that's a huge amount of money, his argument though is that when you look at the cost to a health system, even though these drugs are very, very expensive, the cost to a health system is quite small because there are so few -- because there are so few patients.

MAUREEN CAVANAUGH: You know, we are so familiar, Tom, with drug companies, Bristol Myers, other ones that come to mind, and yet are there some drug companies that really sort of specialize in finding cures and treatments for rare diseases, these orphan diseases that you're talking about?

FUDGE: Yes, one is called Biomarin, and that was the one that I was just talking about. They have developed four -- they have developed four compounds for drugs for rarer diseases, and as I said before, between $41,000 a year and $400,000 a year. The guy who I talked to who's their commercial officer said we have to charge this month because of the expense of developing them. But he did say one thing that was very interesting. He said you may think that it isn't worth it for a pharmaceutical company to develop a drug for a rare disease because there aren't that many customers, and not that many people are going to buy it, not that many health systems are going to buy it. But there are some advantages. When you're dealing with a rare disease, and you're testing a rare disease, you don't have to have huge trials, you don't have to sign up thousands and thousands of people to test the drug on because you may be making a drug that only 2000 people suffer from. Of so the trials are less expensive. Of that's one advantage to that market niche. Another advantage to that market niche is that you don't -- if you're one of these rare drug companies, you don't have to develop this huge marketing infrastructure. Big drug companies, and we've all heard this, have all these marketing specialists who go out there and they talk to doctors, well, you don't have to do that with a rare disease because with rare diseases, there's only a handful of doctors who treat them in a handful of clinics. So you know where the doctors are, you know where the patients are, and it's actually very easy and very inexpensive to get your drug to the patients that need them.

MAUREEN CAVANAUGH: Now, if indeed you or your child have a disease that costs $100,000 a year to treat, how do people pay for that.

FUDGE: Well, they pay for it through insurance. And based on what I have heard, their health plans cover rare diseases. There's no -- as far as I know, there's no healthcare reform that has to happen to make sure that insurance plans cover rare diseases. They are covered. I did read an interesting article, I believe in the wall street journal that touched on this subject, and one suggestion is that people who need these drugs for rare diseases, if they take them long enough, they might hit their cap. That there's a certain cap in the amount that the insurance plan will pay to you for any one kind of medication. I haven't heard stories like that, that could be the case, but that was one thing that was mentioned in the wall street journal. But they are covered by insurance.

MAUREEN CAVANAUGH: You know, we've heard stories about parents and so forth trying to work with drug companies, and doctors, researchers, to try to get them to research rare diseases that their children have. I'm wondering, there is some notion, I think, that rare diseases targeted drugs, drugs that are targeted specifically for an individual, whether the disease itself is rare or just the individual version of a disease is rare, is that really what drug companies think of as the wave of the future, more individualized medicines for people?

FUDGE: I really don't know. Read things that suggest that the days of the block buster drug is behind us, that going after market niches and small numbers of drugs or drugs that treat a smaller number of people is the wave of the future, and that is quite possible. Of I can't say for sure if that's the case. But one thing that we can be sure of is that the basic science will continue. Of the basic science that really is a very, very important facet of developing drugs for rare diseases. The kind of research that they do at Scripps institution here in San Diego or Salk or at Sanford-Burnham. And I had a chat, I think --

MAUREEN CAVANAUGH: We do have to end, I'm so sorry, Tom. We are just out of time.

FUDGE: Oh, okay. Sorry.

MAUREEN CAVANAUGH: KPBS reporter, Tom Fudge, he's the author of the blog On-Ramp.