Down Syndrome

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Down Syndrome is the most frequently occurring chromosomal condition. Doctor Michael Harpold, chief scientific officer for LuMind Foundation talks about the latest research and treatments for people with Down Syndrome.

JOSE CARDENAS: Down Syndrome is the most frequently occurring chromosomal disorder and the leading cause of intellectual and developmental delay in the U.S. and in the world. The population of people in the U.S. with Down Syndrome is unknown. Here to talk more about this is Dr. Michael Harpold, chief scientific officer for the Lumind Foundation. Thanks for joining us on "Horizonte." Tell us quickly about the foundation itself.

MICHAEL HARPOLD: The foundation was formed in 2004. So we're a relatively new foundation. It was formed by a set of parents of children with Down Syndrome who were actually looking at all the research that was happening on a variety of disorders and wondered why there wasn't more research actually happening with respect to Down Syndrome and specifically with respect to intellectual disability with Down Syndrome. They got together, formed a foundation, and the idea behind it was to basically stimulate biomedical research that would accelerate the development of new therapies for the improvement of cognition associated with the developmental intellectual disability. That includes learning, memory, speech, but in addition, another aspect is to prevent or halt the earlier onset of Alzheimer's disease.

JOSE CARDENAS: And that's one of the interesting developments that you and I were talking about earlier offset. The connection between Down Syndrome and Alzheimer's.

MICHAEL HARPOLD: Right, right. Well, it's actually been known for some time, although I think it's only been recognized and particularly widely by the public. But as it turns out, Down Syndrome is the result of three chromosomes and specifically 3 chromosome 21 and on chromosome 21 -- there was some mapping that was done before the human genome project but certainly, the human genome project actually defined and allowed you to really see the gene itself. There's a specific gene and it's on chromosome 21 that gives rise to the major constituent of the amyloid plaque that one sees in Alzheimer's disease. So individuals with Down Syndrome are producing more of that particular gene product and thereby developing these amyloid plaques, which is essentially the defining characteristic or one of the defining characteristics of Alzheimer's disease.

JOSE CARDENAS: As I understand it, you have children with Down Syndrome living longer.

MICHAEL HARPOLD: That's right.

JOSE CARDENAS: At the same time, though they do develop Alzheimer's symptoms at an earlier age so you've got a population group that you can study and that may lead to some studies both with respect to Down Syndrome and Alzheimer's.

MICHAEL HARPOLD: That's absolutely right. The connection is as recently as the mid-1980s, the median life for individuals was less than 30. Actually, it was between 25 and 30. That's now improved with a median life expectancy approximately 60 years old. So with individuals living longer, we're actually seeing now more of that Alzheimer's disease in individuals with Down Syndrome. There's another interesting connection here I think. You've probably read about a lot of spectacular failures of the potential Alzheimer's therapeutics out there. And part of the problem that I think researchers have now come to a conclusion about is that you're actually starting these clinical trials with individuals that are already too advanced with Alzheimer's disease to actually see an impact so most researchers believe that many of these new potential drugs actually maybe have some impact on halting or preventing Alzheimer's disease. The problem is we don't really know who develops Alzheimer's disease. So I think Down Syndrome, and individuals with Down Syndrome, really provide a unique key to address this by we know every individual with Down Syndrome is going to develop the same neuropathology that one sees in Alzheimer's disease by their 40s. The majority, then go on and develop the dementia associated with Alzheimer's disease. So now, we have a population of individuals we know are going to develop that pathology, and with clinical trials, we could actually prove whether or not these potential new drugs would actually have an impact.

JOSE CARDENAS: So let's talk about some developments and therapies for individuals who have Down Syndrome.

MICHAEL HARPOLD: Right, right. Well, as recently as 2004 when our foundation was founded, there really wasn't any -- a sufficient knowledge to be able to develop therapies. In other words, we really didn't understand what were the biological mechanisms that were involved in the cognitive impairment that you see with developmental intellectual disabilities. And without knowing anything about those mechanisms, you couldn't define a drug target, you couldn't develop drugs. So what we set off to do is to put a lot of effort into just fundamental biology. We've actually discovered multiple mechanisms that are involved or associated with that intellectual disability in Down Syndrome, the cognitive impairment. And in addition, define some drug targets, some potential drugs, and actually, since 2004, we've done that. And in 2011 an initial clinical trial actually started on a drug working on a mechanism that was really only discovered since 2004.

JOSE CARDENAS: And what have been the results? What are you seeing with this drug?

MICHAEL HARPOLD: It's in the process. This is actually Roche Pharmaceutical Company, a major company with interest in Down Syndrome, completely new drug. They were actually developing for another purpose, realized in our discussions with them that it worked on one of the mechanisms identified in research. They changed course, did due diligence, they actually initiated a phase one clinical trial in 2011. That's now progressed. Phase one clinical trial is about safety and tolerability. So that's the phase one. The phase two is an advanced stage of a clinical trial where one actually tries to determine does the drug actually work, does it have an impact? So they're now currently in phase two. That began just about a year ago.

JOSE CARDENAS: But things look promising?

MICHAEL HARPOLD: Well, certainly it's safe. It's encouraging based on anecdotal evidence. This is a double blinded placebo controlled trial. Gold standard, the highest quality clinical trial that can be run. So until you're at the end, you won't really know the results.

JOSE CARDENAS: We may be seeing in the not too distant future? Let me ask you this, we have over a minute left. In terms of impacts on Hispanics and other minority groups, the incidence is not higher amongst them than it is for the population but life expectancy is shorter. Why is that?

MICHAEL HARPOLD: Well, I think most people believe that that's probably traced to healthcare disparities. Which is not just with respect to Down Syndrome but certainly more broad. And they may not have access to the more advanced medical care. One of the things is 50 to 60% of individuals with Down Syndrome actually have heart valve defects that can be corrected with surgery. That's been a big boom in terms of extending that life expectancy. But that may not be applicable as you well know widely to every part of the population.

JOSE CARDENAS: People can't afford the insurance and other things.

MICHAEL HARPOLD: Exactly. It will be interesting to see what happens over the next 10 years with the changes that are going to be occurring in healthcare.

JOSE CARDENAS: Well, a fascinating topic, it's encouraging to see the efforts that are being made and hopefully, we'll have you back on the show to talk about good developments.

MICHAEL HARPOLD: Well thank you for having me and putting a spotlight on really an important, under-recognized topic.

JOSE CARDENAS: Thank you for joining us on "Horizonte."


JOSE CARDENAS: And that's our show for tonight. From all of us here at "Horizonte" and Eight, thank you for watching. I'm José Cárdenas. Have a good evening.

Funding for "Horizonte" is made possible by contributions by the Friends of Eight, members of your Arizona PBS station.

Doctor Michael Harpold:Chief Scientific Officer, LuMind Foundation

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