Live FB Q&A Session #1: International Angelman Day

Hello! Hi everyone. my name is Anna and we are the administration team behind A-BOM, which is Angelman Biomarkers and Outcome Measures Alliance. We're excited to be celebrating International Angelman Day with you by having this live Q&A session. We're hoping this will be the first of many. In the following months, we'll be here to answer any lingering questions And just to discuss the blogs that we have posted and will be posting. So yeah, any questions you have- it's pretty easy, it's just like a normal Facebook post. If you have any questions, just hit the write a comment button and we'll answer the questions as we're going along. So, we're going to introduce ourselves. Again, my name is Anna Arata and I do the administration for A-BOM. And I do, mostly, the social media so I help with the Twitter and Facebook and everything else. Barbara: And I'm Barbara I'm a graduate student in the Neuroscience program at Vanderbilt And I know Terry Jo through that avenue. And I work with the reports section of the website to get current research that is ongoing in Angelman research to the general public. So the goal is to basically summarize those articles with a focus on outcome measures and biomarkers. And to, um, basically be an avenue for families to be able to look at these studies that are going on and for them to understand what kind of research is going on and to also be a place for people, where they can ask questions and then we can talk to them about the research and anything that's confusing. And so, what I would really like to do is more students and Post-Docs and people in the Angelman community involved to help us summarize these reports and also link with other foundations and be just a place for collaboration and communication. Terry Jo: Thank you. I'm Terry Jo Bichell and I've been working in the Angelman field for a really long time and I'm so excited right now that we have so many new treatments and so many new drugs - all of them about to come to clinical trial. And, it's just a totally new world. My son with Angelman Syndrome is almost 18 and I think even, you know, 5 years ago it might have been hard to imagine that we would have this many options about to go to clinical trial! So, this is why we got the A-BOM started. It came about because of the foundations - the Foundation for Angelman Syndrome Therapeutics (FAST) and a company, Agilis Biotherapeutics - invited a lot of researchers and people from the Angelman Syndrome Foundation and people from other corporations and they invited us to a meeting in Florida last March And really said, "We need to cooperate and fast-track a way to make sure that drugs are working in Angelman Syndrome. So, we have to form this new, kind of a group that will combine all those different people who need these to have answers to whether these drugs are going to work or not." And so, combining all those groups, we formed the A-BOM Alliance and I'm the new acting director of the A-BOM Alliance. And I'm really, really excited about it. Anna: Very cool. Nice. Terry Jo: And these are- This is our team and we're working really hard on this. Trying to get all of the members of the alliance to be able to share and also get families on board and get families to be able to get involved. Anna: Great. And so, I know you keep brushing on the fact that we're an alliance. And so, could you explain that a little further? How does it differ from like a foundation or a non-profit or something? Why is it an alliance? Terry Jo: That is a really good question because we are not another foundation, we are not another non-profit, we are not soliciting donations. We want you to donate to the foundation of your choice that has to do with Angelman Syndrome, especially today on International Angelman Day. The three foundations we've been working with the most are FAST, ASF, and FAST Australia. And so, we hope you donate to them. But we are- What we are is kind of- it's hard to explain an alliance because really, what we are is just a group of people who are saying we want to work together. And so, we are not collecting dues, we are just, um, having meetings. And what these meetings do is they help corporations figure out the best place to put their money for figuring out which are the best studies to do. And they help the foundations figure out what they need to focus on to be able to get the drugs to clinical trials. And then we have all these researchers who are really already working in the Angelman field, but maybe they don't work on biomarkers and outcome measures. So now we can try to get them involved and get them working on biomarkers and outcome measures. Anna: Nice. And speaking of biomarkers and outcome measures, can you explain a little more about what they are? Terry Jo: Okay, maybe, I don't know can you just say about that? So, yeah. We've been talking a lot about this and how to explain in a way that's really easy to understand because it can be really confusing. So when people do scientific studies, what they want to do is be able to track progress. And there are two ways that you can do this. You can do this with biomarkers, which are more, I guess you can say they are more of like an objective measure, where it is something really concrete like blood tests, or like an EEG, where you have- you know you do the test and you have something that is very cut and dry - this is exactly what these are - and it's very easy to measure. Whereas outcome measures are a little bit more subjective. And it's more like, I guess you can think of it more like symptoms? Is that a good way to say it? Where like, um, you have a certain behavior, for example, or maybe a test that would be you know, looking at cognitive type tests, are sometimes outcome measures. But basically, it's a way to also track progress. So you would look at the biomarkers at the beginning of a test and you would be tracking that throughout, and where that would be something blood tests that's more physiological, outcome measures might be more behavioral or symptomatic, where you can say, "Okay this is how they performed on this given test at the beginning." And after so many treatments or therapies, you can say that "Okay, throughout after two weeks this is now where they're at." and then four weeks and so on and so forth. So, it's just two ways of tracking progress for a given drug or some kind of therapy that might be helping with Angelman Syndrome, in this case. Terry Jo: I think, maybe, a little bit more also is to explain about it, is that, um, biomarkers are kind of invisible to families, so it might be a blood test or a EEG pattern, or a urine sample, something like that. But, the outcome measures might be something more that the families might really notice, like sleeping patterns, or aggressive behavior, or constipation, things like that. So, it's important to do both. It's important to have biomarkers. Those are things that there's no way that it can be subjective, you just take a blood test and measure it. And it's important to have the things like, is the behavior getting better, is the sleeping getting better, do you feel less stress? I mean, those are outcome measures that might matter more to families, too. Anna: Yeah, it really involves the families a lot more. So, why are these important now? Like, what is the importance of them right now? Terry Jo: Okay. Right now is really crucial. So, you all may have seen this announcement just- I think it was just a few days ago, that there's a new, um, gene therapy group that's getting involved in Angelman work from the University of Pennsylvania - that makes three gene therapy teams right now that are gonna work on Angelman Syndrome. So, let's say that one of the does do the gene therapy and they do turn on the UBE3 gene, - so now the UBE gene is working - so that means maybe now our children's neurons are gonna start working better. Well, how do we know that they're working better? I mean, It's gonna take a while for those neurons to connect to each other, for all the experiences that the kid has to start to make the neurons connect to each other. So, it's not gonna be instant that we might be to see a big difference in the behavior of the child. But, we might be able to tell well, is something working? If we can see something in the blood test where the UBE3a protein goes up, I mean, that might- or even in the cerebral spinal fluid- that might be a way that we know that the gene therapy is working, even if we can't tell right away that the child can communicate better. So, that would be a case where we would need a biomarker. So, these- all these drugs are about to come to trial. And so, we have to have ways to figure out whether they're working. And so right now, it's super crucial for families and, um, researchers to get together and do some little studies, small studies to try to figure out if some of these things can work. Anna: Yeah, so how can the families really be involved in this? Like, are there places to sign up or anything? Terry Jo: Okay. Good question. So, one thing is to make sure you are members of your foundations, 'cause the foundations keep lists and they will send out information whenever there's a new study. But the other thing is to please get on the Global Registry, the Global Angelman Registry, that has been organized by FAST Australia that- it's not quick, it takes a while, but you can stop and start it, it asks a lot of questions. But that is a really good way to get a bunch of information about your child already on record and something that can be shared with researchers. So, those are the three best- the best things you can do. Join your foundation, which doesn't cost any money- you just give them your name and address, your email and they can get ahold of you. And then, go to the Global Angelman Registry. Can we put a link to that? Anna: Yes, I was gonna say- we posted a link to that, but we can always do it again um, to the FAST Australia site- it should be towards the bottom of, probably, this post- I think it was probably 3 posts ago. So, feel free to check that out, it's already on there. Terry Jo: And then, I guess, can we put a link to the foundations, too? Anna: Oh yeah, definitely. We will put a link to all the foundations so you can sign up that way as well. Terry Jo: And you- I talk about the foundations in the United States, but this is gonna go global and so, we want you to get involved in your foundations in South America, in Europe, in Asia - all over. So, we're trying to build up our website, and put links to all those foundations. Anna: Yeah, so those will be available... pretty soon. Terry Jo: So, what about, um, what do you think, Barbara, is the best way for us to tell families about new science? Barbara: I think, um, so what we're going to do is take articles as they get published, and then also do back-log for articles that have already been published, and summarize them so that families can see what's happening now, what's actually being published currently. We can also- I don't know what else- I guess that more what I was thinking, but we can also just put general questions up there- Terry Jo: Yeah, true! or general explanations of what's going on. Terry Jo: People could just- ask questions. Barbara: Yeah, also- yeah, people could just ask questions and we can figure out the answers and do some research and answer them, yeah. Terry Jo: So actually, we could do- Barbara: Whatever's needed we can try to do for that. Terry Jo- and we can do- this is our first live Facebook, which we're gonna stop in about one minute. But, we managed to get through our ten minutes. And so if we come up with a lot of questions, we could, overtime, we could save them up and do another live Facebook, or we could do a live Facebook, like, once a month, or every couple weeks or something, to try to keep- Barbara: Yeah, whatever's needed. We can, kind of, see what happens. Anna: Yeah, yeah. Feel free to, um, if you have any comments or anything, you can always comment now, or or you can comment later on and tell us what you'd like to hear from us. So if it is, like, a weekly Q&A session, or if monthly will suffice, just, yeah, we'd love to hear your feedback. So once again, this is Anna - I'm looking at that - This is Anna, this is Barbara, and I'm Terry Jo and, um, we will love to be in touch with you and I hope you're having a great day today, and we should sign off. Anna: Yeah, alright. Thanks for watching! Terry Jo: Bye everybody!