What you’ll hear in this episode:

• About Alice McConnell and her family’s “diagnostic odyssey”
• What SSADHD is and how Speragan is trying to treat it
• How Speragan’s work with the ACC Bioscience Incubator is making a cure possible

Some diseases are so rare that they often get overlooked. Alice McConnell learned this first-hand when her first child was not meeting her developmental milestones and their family got caught in a “diagnostic odyssey.” At first, doctors ruled out the possibility that her child might have a metabolic disorder since newborns are tested for them in the hospital at birth. But, as it turns out infants in Texas are only screened for eight metabolic disorders when there are “hundreds upon hundreds” in the world.

After the birth of her second child, McConnell was able to get both of her children tested for a host of metabolic disorders and both came back positive for Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD). The reason doctors missed it at birth is that newborns are only tested for disorders for which there is a treatment. SSADHD was just discovered in the 1980s and while treatments were being researched, “nobody was looking beyond that and how are we going to commercialize a treatment for this disorder,” McConnel says. So, she started Speragan a clinical-stage biopharmaceutical corporation specializing in finding treatments for rare diseases.

“I want [my kids] to grow up and be healthy,” she tells Science at the Mall, Y’all host Dan Dillard. “And I want them to move out and have productive, happy lives.”

Listen to the latest installment of Science in the Mall, Y’all to hear more about the incredible work that the Speragan are doing. You’ll be able to hear first hand how McConnell’s work is providing hope for the future of her children and children around the world, and how the Austin Community College Bioscience Incubator is helping to make that possible. If you like what you hear be sure to subscribe and share this episode with a friend or colleague!

Science In the Mall, Y’all is a founding_media podcast created in partnership with the ACC Bioscience Incubator.

Host: Dan Dillard, founding_media

Guest: Alice McConnell, Speragan

 

Transcript:

this is a founding media podcast produced at Austin community college district

welcome science in the mall y’all I’m your host Dan Dillard today on the show we’re sitting down with Alice McConnell of spiritual but she did not start after working biosciences she found a very important reason to get involved Spurgeon as a company committed to improving the lives of those with a rare genetic neurological diseases diseases that mostly affect children and diseases that are so rare they can be overlooked let’s hear from Alice and how she started down this line of work so here’s one example of science happening in the mall y’all today

this is Alice McConnell thank you very much for being on the show really excited to listen to your story so I want to start off with the research I did on your company in a miniaturized sentiment Spurgeon yes is it’s a company that is a clinical stage bio pharmaceutical corporation N. E. focus on rare diseases yes I think that’s really cool get it but the first question I have is what’s the difference between a clinical stage and what’s the other options so you can be a pre clinical stage company first off thank you so much for having me here today with you you can be a pre clinical stage company or discovery where you’re looking for molecules and proteins and then from there you go when tested in animal models and then after you have toxicology in PK and PD done then you can move into human studies and so clinical stage means that you’re in human studies oh well okay so you’re in that further allows we’re across the board we have it in silico modelling program that looks at possible combinations of molecules to make compounds we have pre clinical work we were doing work in the mouse model and then we slice into a drug that just finished a clinical stage trial

>well that’s amazing what impresses me the most as I was reading your story here background is that you’re focused on rare diseases on there’s one particular trucks around and that’s S. S. A. T. H. yeah and if you can say okay your giant prize I just used a Bren system X. emailed a high dehydrogenase deficiency yes I would not let me two half months to be able to pronounce federal it’s a it’s a mouthful it’s a inborn error of metabolism so when babies are first born they stick their heel and take a few drops of blood dries on a car and then it goes down to the lab here in Austin and they test them for a host of metabolic disorders concert to metabolic disorder that could be tested for birth but isn’t because it doesn’t have a treatment oh well and so you want to meet on the journey of of of of how you decide to go down that path sure I’m so both my children have the disorder okay and so what did you learn about that wing Evey my daughter was born Evelyn we color easy though she had really poor muscle tone and then she wasn’t meeting her developmental milestones and so we got on the call the diagnostic Odyssey we got caught in this diagnostic Odyssey because she wasn’t tested for this particular drug disorder first and so we over and over and over again heard from physicians saying no no she doesn’t have a metabolic disorder they would pick it up at first but at the time she was born Texas is only testing for eight disorders and there’s hundreds upon hundreds of metabolic disorders and so we got tested for all of these different things she went through two years of like intensive screening and testing for all of these things she didn’t have and then I was actually pregnant with my son Jack they’re only less than two years apart so right after Jack was born they did new born screening and so I go back to my pediatrician and I said Hey they took my kiddos blood right when he was first born what are they testing for it she’s like other testing for metabolic disorders and so I go well let’s test TV again for all these different ones because I’ve been reading about how many there are and she came back positive and so it’s an autosomal recessive disorder which means each parent carries a mute Asian if your carrier there’s no effect but if you get too bad copies then you get the disorder so we Jackie our little guy Jack wasn’t showing any signs of but we went ahead and had him tested too since wish medic and he came back positive sent so you have a stake in the in personal injury and they live in my house well one I want them to grow up to be helping me and then too I want them to move out and have productive happy lives

so let’s talk about your background because obviously not everyone can just I don’t want to tackle this thing so what was your passion what you get yes yes and yes you can I stand corrected but let’s talk about your background and your passion how how you decided I’m going to take charge make this happen I’m so my background I am a civil engineer in Sir my specialization in school with structures and I moved to Austin in two thousand and I don’t know if you’re here at the time but the it was just booming and then do you remember the Intel building downtown and they just start building halfway through we’re working on the project well and most actual firms are tiny little firms and so it’s usually like eight people the one side work at dinner we were having trouble making payroll and they’re like you know we don’t know what’s going to go on so I moved over to infrastructure and that’s when the toll roads it started up here they were building a lot and for example construction so much easier than vertical construction but with in doing infrastructure projects like highway bridge tunnel work you bet it for the state or the federal government and so the way my company is funded is extremely similar and so we get an I. H. grants and so the bidding process is very similar to submitting a grant application and then down half we have to keep time sheets is almost exactly the same one four federal highway projects in in each work in Cerro it was just a skill set that I was able to move over and then the last time I think I took biology was in my freshman year of college and it was like biology for people that will never need biology ever again it was just a requirement sorry I actually have no cards in my car of terms that I hear when I’m on my break them down for the definition on back and then I just flip through them and yeah and so that’s how I learned the language it was missing in the is you’re in a completely different industry engineering on the last though so so engineer problem solving yeah it’s a TV how to kick a large problem break it down into steps reconcile

yeah and so you went from that into a completely different you know science yeah and and was there and termination there was there posted closer reason is just couldn’t find a solution they were doing research and so the disease disorder was discovered in the early eighties and then we have excellent researchers at the university and they have been doing research for a really long time but nobody was looking beyond that and how are we going to commercialize a treatment for this disorder and so that’s where I stepped in because it was being a small disorders we often have companies come to us and say I call it molecule shopping we have a molecule we think it might work with your disorder and they’ll get our patient group really excited we have an online patient group a private one can you could see everybody’s hope just swell up is there like we’re going to have you in a phase one trial in eighteen months and this and that and then they would ask for money for our patients so she shin to say you know if you give us funding will do in work in the mall with our molecule and and then something would go wrong because most trucks don’t work and then they would go status and then you would just see all the hope like question from all the family and I don’t like seeing that answer I went out and I was like well I’m going to start controlling our IP intellectual property because that’s where you get a seat at the table and so by going out and collecting all into intellectual property around the disorder that it gives us a true voice the patients the true force smoothly click the I. P. yes Sir it’s a go go in license in the intellectual property and then we got funded through the NIH has a really good program it’s the STT our which is part of their small business innovation research grants but with this when you get to pair with universities and so we have the science of the university and then it lets us fund our small business and keep the research going stressing home

you took something that you saw really the need for that wasn’t being solving like let me go do something about this purses let me just wait and assist some people will just there’s no solution they just kind of sit there are people that there’s people that yeah there’s people that throw their hands up and say this is what it is but there’s also people like not even in our patient group or any relation to mean or anything this disorder brings people out of the woodwork and say there’s no way I could have done this in our patient group could done this without like so many people giving us their time and teaching me along the way hi it’s been my goal to graduate school just not in graduate school in Serra I’ve had so many mentors and so many people have given me their time and advice so freely just just a learning journey yeah the thing that as I was reading more on the story intrigued me was that there’s a lot of people that have this disease that don’t now yes there’s a screenshot it’s highly underdiagnosed or misdiagnosed and so the the phenotype is how the disease presents is extremely broad so we have it from children and wheelchairs that have multiple seizures a day up to children that may have a speech impairment and mild learning disability and so it’s very very broad and so a lot of almost all of our kids had behavioral issues ADHD and OCD and they have some autistic features so a lot of children get diagnosed with autism and the parents think that is the diagnosis and they don’t go look for the underlying genetic costs because it’s like presenting with headache and so hundreds a hundred things could cause your headache and so different things can cause their symptoms but usually just get a developmental delay autism diagnosis and parents don’t know to go beyond that so we’ve done a lot of work getting on all of the next generation sequencing panel task for intellectual disability seizures ataxia which is our when people have a hard time moving their bodies and just general developmental delays and so we’re seeing our diagnostic rate go up hello resolutions on the some of those read back reading a backstory aside just well press with with all the with the key for us is to get our newborn screening and so the way newborn screening works is you need to have treatments available therapy before you can be on the test panel but to get a therapy a cohort a large group of patients diagnosed sure you can get them through a clinical trial to get a therapy so if you don’t have enough patients diagnosed you can’t get a drug could you cancel clinical trial without filling clinical trial you can get a new print screening it is a catch twenty two and so we went back with the help of Baylor and looked through a lot of genetic databases to see the carrier rates and from then we were able to project out we should have between one and two thousand patients in the US with the disorder and we now have less than seventy diagnosed so there’s a lot of people there that have the disorder into yeah

so mmhm what’s the next five years for you on the next five years and in the next five days five days later like for him so the drug that we license stand has completed the trial it was one through a grant before spiritual as everyone started for my children are diagnosed with our lead researcher Dr Gibson and in I. N. D. S. which is the institute for neurological disease and stroke and so that trial has completed in waiting for the results to be published and we’re hopeful because we had sixteen people complete that trial and it was double blind crossover placebo control so everybody was on drugs and everybody received the placebo and at the time that was up over thirty percent of our patient population was in the trial which we never hear of thirty percent of people with asthma going in and participating in a study so it was actually a repurposed drug and so all the safety and toxicology was already down on it when it was tested in other disorders in the nineties and so the profile of the drug looks really good so we’re very hopeful that is the trouble research shows positive that will go for a new drug application with the FDA as soon as we get the results of that trial and then I’m really excited because we started inside replacement therapy so the children are missing an enzyme and they don’t break down Kappa and so instead of breaking down gap at this other chemical comes in that replaces the enzyme that they’re missing and it makes an offshoot chemical GHB and you can use for the obviously different from myself as well Springwood cabins Gabbay is inner transmitter in your body and it’s the major regulator of muscle tone and so eight our children are really lacks they were like new books and then they have a really high level of gap in their system and then their depleted in glutamate which is one step up from there but the real problem desist orders we believe it’s Gabby gets broken down they’re missing the enzyme that properly breaks it down so another molecule comes in and breaks it down into a chemical called G. H. B. and everybody would know GHB is the date rape drug of the nineties okay and it’s what people spiked drinks with they call it liquid excuse it’s a party drug so all of us make a tiny bit of it but our kiddos make like a thousand times which typical person would have in their body so imagine if you’re like trying to get through your day and usually are jacked up on a club drug all the time and you’re a little kid and your teachers trying to make you set and Nick you’re trapped in a fog so it’s the R. caters to a lot of hard work people don’t always see it because they’re locked in but just for them to set requires a great amount of effort

and so the struggle going back to what struck does is it lowers the chance no so this truck that’s currently in trial is a gather being antagonists and so I’d like to think of your receptor as like the whole and so different things combine to it in so both Gabba NGH B. like combined together B. receptor which causes like a cascade of over reaction in the body and the struck sits on top of that two singles yeah it has a higher by any affinity then either Gabba or GHB does but it doesn’t activate when it makes contact so it’s just like a little cover that sits over the top of it and then your body processes the other metabolites without you having to react to that

so what is your hope for this drug is it is this is this because it does that is to enable for growth unless unless the G. is that it keeps them healthy and reduces the seizure activity we saw on the mouth model that it normalizes the E. cheese most of our kiddos die from sudden unexpected death in epilepsy and so parents will walk in the morning and their child be awakened in soho in the big city thing if it does not yeah if it just does that that would be huge test have you know have your kids make it through puberty is a rough time for our kids and I knew was her first time for most people but like when you walk in the morning in your queue Bessant yells at you think he sleeps but we’re in a different ball field were like we hope your week off right and so yeah if it’s just this drug we hope it shows improvement in behavior and then normalizes their a seizure activity and then it’s an entry so once you have one drug in a disorder you become more attractive to larger companies and so and then that’ll bring in more funding for us to work on the intern placement therapy and then once we have that drug it opens the possibility for us to be a newborn screening and so we’ll start getting our true prevalence known in so we just need to be cracking something to get in in the world opens up to us now

that’s amazing congratulate you for all the hard work and it’s just listening to you I’m just my mind is blown by but it’s not just me like it was there so many people that I’ve been working on this for so long and people not even related to the disorder that have given so much for it and so I guess like the clippings and expertise engineer I like either the the conferences and everybody’s niggling around Mike Tyson because bridge could you solve your problem for you having to talk about it I’m just telling the answer through yeah that’s just what it what how I look at things

tell me about your experience building a business because one thing to you attack a problem within seconds coming up in the business and what the administration is poor sorry this phone all your bills we want to know the Bentley yeah cool you know essentially see other people chasing their dream well they have to know what’s all of all levels roses so it is pretty good like my kids don’t know I work in Serra I’m there for pick up everyday after school taken to therapy every day you know we play on the weekends they they don’t they don’t know that mommy works and so it does give me a ton of flexibility you know like they go to bed at seven thirty and then I can look to win night and then we work with Europe and the west coast and east coast and so time zones are all over the place and so it gives me a lot of ease with that doing work through the NIH you have to keep your company registered with five or six different entities which is a lot of work and then you’re required to keep detailed very detailed time sheets and you have a lot of accounting which is good because you’re using government money should be accountable for it and then yeah payroll taxes all of those things taken that you didn’t sign up for more junior to actually do the trick you in school and you’re going to be making like the big beautiful bridges that span these amazing water waste you know your accounting in time she construction billable hours and all that all that is still there but this is better for engineering I believe because you get to talk to a lot more interesting people and make some real change I mean enough that you can make real change but I always joke I can always go back to being civil engineer in less gravity changes are we get flying cars because it’s pretty much the thing and this is really dynamic and you get to choose your own pathway you can make a lot of decisions yourself good and bad and stops with you the Buck stops with you yeah you think of caution penalties people’s mortgages and it’s it’s it’s one of those things at all times people don’t understand that businesses and into the and it grows and as it grows it pulls more from you so just hiring people you need you know yeah hi cells B. brother usually anybody they need training and there is a role and there’s all kinds of things you can also get scope creep so easily to people come and I only want to pick up this project and I want to do this now when you do that in your life no we ordinarily we are narrowly focused company like this is the problem we want to solve and so it’s not some people go into business to make money and other things you know we just wanna make sure these kids lives and have a good life

well in my experiences those businesses that are true driven by passion that turned out to have a lot of success because they’re the ones that you get off work at three o’clock and we do certain things because I’ve got a certain company to that so wow as you know this the the show is assigned to them all y’all we are also in Britain the things that are done over the C. C. the biosciences inhibitor how is that I hope you were happy you’ve explained service for Esperion started ACC was just starting up the bioscience incubator so we are learning renting lab space through another company here in Austin and then when ACC open up their space it’s brand new beautiful wet lab space and there’s no other in Austin like it and so just the equipment there alone there’s no way we could afford adequate meant and then it’s nice because the benches are all there six in a room and so you can the benches is where everybody works for our scientists work and so there’s a lot of collaboration and there really like their focus is not on the exact site you do but helping you be a better company at what you do and so they’re always looking to connect you and promote you and give you opportunities that you wouldn’t know if you were outside thank you better yes

it makes it makes a lot of sense when I first met Nancy over there I was just blown away by the end of the tour when we buy all the equipment wow this is so cool and and would rethink is in Austin we were and of course in the US were used to these co working spaces over into the city but this is like co working for science yes we’ve got all the equipment yeah so and I thought that was really cool from Quitman and not having to spend the next things more efficient but also as you pointed out the the relationships we build with with both them and other scientists that’s what it’s all about him in a relationship and getting network so when something comes along and you have a problem you know who to go to yeah support systems in Russia yeah

so let’s say you were able to get the drugs out and work on the this second part which is the exams yeah replacement and that goes well what’s next for you after like after like all the children are found with this disorder and they’re all healthy you when we get into my seventies well it’s not going to take the this is rare diseases and I wanted to scream when wondering what other things are on your way or if if anything I love nutrition and exercise in those things and I think so much could be done to benefit people just I know we’re drug company we make drugs but there’s so much L. drugs just make people healthier in Cerro that was it my kids getting diagnosed pretty much cracked my world open answer before that you know I was very like yeah I was just engineers was like you know like everything works everything’s fine you can put it in order it’s all mechanical it is not healthy his foot so insiders I really caught in to exercise and nutrition and yoga and meditation in all of that and that’s what helped me get through all of the love that I I often tell even though it’s been over since they’re thinking about taking the leap is a lot of advice out there but it is just trust the turning in looking out for your practice and everything will come every day looking for sometimes you’re in a new building bridges and the next thing you do your soul your billing of drugs and and that’s not random it’s just this is the way life is unfolded yeah and what you see here I do believe the injury open to it you have to be open to it yeah I do believe that our universe provides all opportunity in front of our eyes open and say yes yes what you say because the universe will give it to three okay the line’s universe not meeting that I was having a yes no it’s it’s it’s I’m experiencing thing my career had a wealth management background and I really enjoyed that for a good time BMS to hold certain plans on that but during that that opportunity for me was to open up and teach people that you can chase your dreams and let’s go interview people that are actually doing that and and and take the permission for ourselves to do the same thing and I think that was my calling and I just said yes and kept going in I enjoy so we’re so much for me it’s what impact can we have on the world yeah it’s not about what you said this earlier so about making money so much at one point I think when we’re younger that’s what it’s there you go to school your dad and you know give me this much money yeah but then we grow to a certain point okay how my legacy

I have found that this company really does attract people not so much like that were hired we have great people that work for us but people from outside that are higher up and had their careers that want more purpose and meaning and so they just come to us and help us immensely because it’s a film to the inside when you find something that’s your purpose was also feeling for others and people get behind it’s just a wonderful way to live your life as hard work as it is yeah you also get up the next day because you know you’re making a difference it’s not an easy life but it’s a live call life and so like yeah an easy life is in a live life people if people just come to us and

so part of our listenership is going to be students are trying to figure out what they wanted to and some young entrepreneur some scientists are not scientists what would be your advice based on what you’ve learned to them I’m my advice is I know nothing and I’m open to learning because going into this I knew nothing and so you have to get over the fear of saying like us personally competent in my last career but to come into this and say I actually don’t know what I’m doing to you please teach me what you know and up into a point you can do that but you really have to listen to people and people have a lot to get in so just taking in what they have to give you is a big deal so it’s a humbling experiences with her I knew it was a humbling it all it was it was a great it’s like opening to learn new things that you never would have learned if you were blocked off in thought you knew what you were doing and to think full doing you have all this to learn this phrase that maybe I should send you’ve got to be humble and help yes you have to be humble and ask for help you know the people either do that yeah people do people love tech that’s one thing that I’ve learned through the office people love to share what they know and they like to see it grow in other people and so on yeah just be really open to taking advice good and bad like have your own inner wheel that steers you in the right direction because people will give her some but just have a good gauge and say that is bad that’s not what I want and then have it when people do open up and share with you yeah take their advice because it’s for so much they have so much experience behind them that you don’t have little knowledge grows one generation to the next is just pass on stories and knowledge and training other people in the south of history we’ve learned in the sense of sitting around the fire telling stories thank you so much for coming on the show I learned so much I appreciate everything that you’re doing it really isn’t firing the hope the audience gets as much inspiration as I did okay thank you so much for having me I appreciate it sure thank you again Alice for tell us your personal story on the show and for sharing the important work of spare engine if you’d like to learn more about Spurgeon there is a link in the show notes size of the mall y’all is created in partnership between founding media and Austin community college I science incubator to learn more about the ACC bioscience incubator please visit the link in our shipments