NIN: To start simply, why are you here at TEDMED?
Stan Lapidus: We are developing a blood test for autism. Discoveries that we have made over the past six months or so, after four years of research, will soon converge on what we hope is the first reliable blood test for autism. We measure a combination of biomarkers, many of which, in the past, have been individually reported. Although they’re not especially diagnostic by themselves, when put together in a novel combination, we think they can lead to a powerful tool to help get the right kid diagnosed early.
This would be a laboratory test, physicians would need to draw blood, either a finger-stick or, initially, a phlebotomy - a vein poke, and send the test to our lab, and we would run the biomarker panel. How it will develop in the future is unclear; one of the possible ways for it to develop is, initially, a once-in-a-lifetime test but, for children who are diagnosed, we plan to investigate whether following children repeatedly with this test will help predict who will respond well to behavioral therapy, and when drugs become available, who will respond to what drug … That’s for the future.
And what stage are you at, in terms of being able to work with kids, with actual patients?
Stan: We completed enrollment in an eight hundred-patient study this past June, and we expect to have results late this year, or early next year … Blinded, validated results.
So that means those people who participated in that study don’t receive the feedback?
Stan: They do not. It is under the kind of IRB approval that says, “You can take the blood, you can analyze the blood, but since we don’t know if your test works, you can’t report the results back to either the physician or the parent.” Future studies, of course, if this is successful, will in fact report the results back, and we will be observing how families and physicians use that information.
Talk to me about the ideal case scenario … A person comes in with their child …
Theresa: The goal would be that, eventually, a parent would become concerned about a child, at whatever age – Right now our test is for eighteen to sixty-two months – so, they’d bring them in at the eighteen-month appointment, t hey’re concerned – maybe the kid is not talking, maybe there are some social issues, and they say, “Doc, I am a little worried,” and the physician says, Why don’t we do this test? It will help stratify risk, and then tell us whether we should move them on immediately to a full evaluation, to clinical diagnosis, and then onto intensive interventions as early as humanly possible.
Because the one thing that people in autism research agree on is that, the earlier the diagnosis, the better the likely outcome. So that’s really what motivates us at SynapDx.
What is an “intense intervention”?
Theresa: Forty hours a week of very intensive verbal, social communication. So, it’s the kinds of things that parents do anyway, but children with autism often need more of it, more repetition, in order to learn the word “ball,” for example, or to learn how to point to something and get you to also look at it … That kind of thing.
While you are at work in your offices, working with samples and data, and likely biomarkers… How hard is it to keep in mind the end-goal, and that the end-users are these kids?
Theresa: It is pretty easy, because we decorated our entire office in art from people with autism. From kids, all the way through adults, so I think it is actually pretty easy. We are also pretty active with the autism community locally in Boston, so that we do keep the families that we are going to be working with in mind.
Stan: And we talk about it a lot. Our team are scientists, engineers and other professionals – but especially for the engineers, who haven’t been exposed to what we do … I think they are especially motivated, and especially proud that the work they are doing … We hope, they hope … will have measurable impact soon on the lives of families. I think this is something that is very important to the SynapDx ethos is, “Keep the problem always in the front of our minds.”
Where are you based?
Stan: In the Boston area.
Other than autism, if there was some other thing that you, on a personal level… could make “Not Impossible,” what would it be?
Stan: A scientific tool that would be of great value is doing a brain biopsy. There are many disorders which could be unlocked if it were possible to do brain biopsies easily. A blood draw itself is a kind of biopsy. A pap smear – that’s an area in which I was active – is a kind of biopsy. One of the reasons that neurologically-mediated diseases are a mystery is because we cannot get at the core tissue, we look at markers. So, that’s certainly something that clinicians think of as impossible. There is no brain biopsy device; there won’t be one. Maybe we should rethink that.
Theresa, what about for you?
Theresa: I think the hardest thing for health is changing behavior in a durable way, and I don’t know if that’s the kind of problem “Not Impossible” focuses on, but I think it’s one that’s so fundamental to so many problems, like obesity and smoking and drugs … I mean, so many things. So If you guys could figure that one out, it would be really appreciated (laughs).
Stan: I have one more, Elliot …
Elliot: (Laughing) Okay, go ahead …
Stan: The greatest bottleneck in medicine is not the want of ideas, or the want of clever solutions – it is the conduct of clinical trials. The cost. Let me make a blanket statement – Clinical trials are a factor of ten too small because the cost per patient is a factor of ten too high. A combination of rules which are well-intended, but are expensive to implement … What constitutes an effective clinical trial makes studies expensive and discourages innovation. Rethinking the clinical trial, which applies across all areas of medicine, will itself be a revolution. It might be the most important revolution of the 21 century.