Microvillus Inclusion Disease (MVID)

Dr. Dmitry Kravtsov, M.D., Vice President of Research & Development at Vanessa Research, Inc. (VRI), discusses the white paper “Addressing the Microvillus Inclusion Disease Knowledge Gap – A Comprehensive Case Analysis”.  MVID is a rare genetic disease that afflicts infants with very severe diarrhea. Shylicine™ is the first-ever drug developed to treat microvillus inclusion disease.  

Dr. Dmitry Kravtsov is a biomedical scientist with over 10 years of experience in the area of rare diseases. He received his doctorate degree in 2000 from Kuban State Medical University in Russia. After completion of his PGY1 in internal medicine, he joined Vanderbilt University as a post-doctoral researcher in 2001.

During his time at Vanderbilt University he studied the genetics of rare diseases, specifically Factor XI deficiency. His work culminated with a novel classification of FXI deficiencies explaining co-existence of both autosomal dominant and recessive traits in the disease.  In 2010, Dr. Kravtsov joined Yale University School of Medicine as an Associate Research Scientist focusing on tissue-specific models of diseases. At Yale, he created models of Microvillus Inclusion Disease (MVID) that provided novel insights into the pathogenesis of the disease.  He joined Vanessa Research, Inc. in 2015 as Vice President of Research and Development, where he led the development team in creating a patented non-invasive treatment for MVID, called Shylicine™.

Transcript

Neal Howard: Hello and welcome to the program. I’m your host Neal Howard here on Health

Professional Radio, glad that you could join us. Our guest is Dr. Dmitry Kravtsov, he’s Vice President of Research and Development at Vanessa Research and he’s joining us on the program to talk about a very rare genetic disease that affects infants with very severe diarrhea – it’s called MVID. Welcome to the program Dmitry.

Dr. Dmitry Kravtsov: Hi Neal, good morning. Thank you so much for having me this morning in your program.

Neal: We’re glad that you could take the time. Now being Vice President of Research and Development at Vanessa Research, give us a very brief background about yourself. What type of a doctor are you?

Dr Kravtsov: So I received my medical education in Russia and … our State University Hospital and after practicing for a little while, I decided that I’m very interested in doing biomedical research so I applied for a post-doctoral position at Vanderbilt and I’ve been studying the molecular genetics of rare diseases at Vanderbilt for quite some time. Then I joined Yale as a research faculty and actually most of my work there was revolving around the Microvillus Inclusion Disease and at some point, we just basically accumulated enough data to start focusing on just this disease itself and just developing the treatment for the disease.

Neal: Microvillus Inclusion Disease, what is that? I mentioned that it causes infants to have severe diarrhea. What causes the disease and why does it affect infants and does it only affect infants?

Dr Kravtsov: So this is a genetic disease and the only way a person can get it is if just both parents are silent carriers of the mutation and the gene and they both transmit it to the to the kid, to the offspring. So there is no way that somebody can acquire it during your lifetime. It only manifests soon after birth and it only affects the infants.

Neal: Is this something that infant grows out of?

Dr Kravtsov: It’s a terrible disease. It’s probably one of the worst diarrheas known to the humankind and it’s really terrible. So if you think of the cholera, it has been a terrible disease, well Microvillus Inclusion Disease is way worse than that. And without literally urgent medical support, without the measures that are life-saving for these children, they cannot survive. And this disease is not something that can be easily outgrown so all these kids have to really be treated for the rest of their lives and with the  Microvillus Inclusion Disease, unfortunately it’s very short. The average lifespan for these patients is only about four and a half years as of now.

Neal: Four and a half years. What is the traditional treatment for these kids? What has been the treatment?

Dr Kravtsov: There is no treatment that is specific to this disease. So when a newborn is detected as having the  Microvillus Inclusion Disease, they’re immediately placed on the life support so the … must be stopped at once because it aggravates the disease and what the doctors do to help to help to save this child’s life is they would put them on the intravenous hydration and feeding, so called parenteral nutrition and they would supply all the fluids, electrolytes and nutrients that the baby needs intravenously. And this is actually not the treatment per se, it’s just the way of saving this child’s life so it’s excellent in the short term. It’s amazing as it’s literally a life saver kind of a treatment for the disease. However, the symptoms don’t stop so the child continues having the diarrhea and worse over time, the parenteral nutrition eventually leads to severe complications such as sepsis, such as liver failure and this is what is really limiting the lifespan of these patients. And some of the things is that there are still a standard in the care, is that the children that are affected by the Microvillus Inclusion Disease are being currently advocating to have a small bowel transplantation as soon as possible to prevent the eventual liver failure.

Neal: That’s horrendous and as you say, it’s a way to save the baby’s life, it’s very short-term and it is just as uncomfortable as almost no treatment at all, it seems. We’re here to talk about a white paper addressing this MVID knowledge gap. It’s a comprehensive case analysis. What does this white paper offer in the way of hope for the future for some of these kids?

Dr Kravtsov: So just a touch up on the treatment options just to kind of comment on your thought that, yes, it’s terrible. It’s much like having no treatment at all and the babies are on the parenteral nutrition on this IV system for up to 24 hours per day literally – some of them are. But what we’re trying to do with the white paper here is right now, if you think of the field of the diarrheal diseases, then there are some typical diseases like infectious diarrhea, traveler’s/rotavirus in children that is really, really common widespread. Everybody understands it, everybody thinks of it when they see children, when they see a child with the diarrhea. And then there is a group of really, really rare congenital diseases that only a few high-level healthcare professionals know about and can actually detect and treat properly. And then again,  I’m speaking about healthcare professionals in this case, both cases are actually doctors. The current knowledge gap is that yes, the disease is known however it’s only known to literally a handful of physicians and a handful of pediatricians in the world. Well most of them are completely unaware of the disease and worse, since this is a rare disease, there’s only a few hundred of cases that have been reported. The patients and patient families are completely  unaware of what it is, what is it all about, what is happening with it, like what is happening to their child, what’s wrong, can it be treated? All these questions1, it’s a huge, huge, huge gap in the understanding between the public … in that way general medical community and very specialized high-level physicians and scientists who know this disease and not pretty well.

Neal: Now there is a drug that’s been developed specifically to attempt to treat Microvillus Inclusion Disease.

Dr Kravtsov: We have come up with the idea of sort of like to trick this disease in a sense. So  the background here is quite simple, so it is a genetic disease, so it’s a mutation in the gene. The gene does not work, it doesn’t make a functional protein. So how can you possibly treat it? Well these days, there is so much information about different kinds of genetic treatments when they literally try to replace a defective gene with something, with a working copy. That’s still in development so it really has been kind of on and off with the approvals, with the efficiency of this type of treatment and it’s a really really complicated thing to do. We took a bypass because the council behind our treatment is that we don’t necessarily need to replace the gene, because there is not a direct cause-effect relationships between the missing protein, protein and the symptom of the diarrhea and this is exactly where we targeted our treatment when we designed it. So instead of replacing the mutant protein, we found a way of how to bypass its function in itself and it can be easily done by combining several of the known substances that are really well characterized, really safe, that’s been on the market forever but they were literally never thought of being applicable in the case of the Microvillus Inclusion Disease and this is the strategy that we are taking.

Neal: So basically combining what already existed into one compound?

Dr Kravtsov: Yes, correct.

Neal: And what is the name of this compound that you’ve developed?

Dr Kravtsov: We call it Shylicine™.

Neal: Shylicine™, the first ever drug developed to treat Microvillus Inclusion Disease. And where can our listeners go online and get some more information about Shylicine™ and Vanessa research as well?

Dr Kravtsov: We have a website vanessaresearch.com and we also have a whole section dedicated to the educational campaign about the Microvillus Inclusion Disease at mvid.vanessaresearch.com

Neal: Well Dmitry, thank you so much. Lots of great information and on topic that I had never heard of, a very rare disease. Thanks for the information, also for the website where we can go and learn about Shylicine™ as well as Vanessa Research Incorporated and any of the other research that you’re involved in.

Dr Kravtsov: Well thank you so much Neal, thank you for having me here and I really hope that this will actually like that we will be heard and all people will know and recognize Microvillus Inclusion Disease when they encounter it and that’s our main goal – to educate, educate and educate about the disease.

Neal: We’re more than happy to help you in that endeavor. Once again thank you Dmitry, it’s been a pleasure,

Dr Kravtsov: Thank you so much, it’s been a pleasure to be here too.

Neal: You’ve been listening to Health Professional Radio, I’m your host Neal Howard. Transcripts and audio of this program are available at hpr.fm and healthprofessionalradio.com.au. You can also subscribe to this podcast on Itunes, listen in and download at SoundCloud and be sure and visit our Affiliate Page at hpr.fm and healthprofessionalradio.com.au

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