64 – SYNGAP1 Study – Seizure Tracker

Dear SYNGAP1 families – Praxis, who is developing an ASO for #SYNGAP1 (see #S10e58) is launching an important study in partnership with SRF & Ciitizen/Invitae. In this webinar, you will learn about the study and how you can join to get us closer to a treatment for our loved ones. To join this study you have to be fully signed up on Ciitizen. If you are not signed up yet, please click here: Ciitizen.com/SYNGAP1/SRF. We also would like to invite you to join the SRF | Ciitizen Facebook group to get reminders and ask questions. Please reach out to Virginie McNamar if you have any questions about Ciitizen or the tracker (virginie.mcnamar@invitae.com).  Thank you!


0:08welcome everybody to this very  very important and exciting webinar   my name is Michael graglia I’m almost done with  breakfast and we have a star-studded panel here  

0:21on the on the top of my screen at least wearing  purple we have Lauren who’s the operations manager   of SRF and you all know because she makes  it all happen and we have Virginia who has  

0:30many hats one of them is a SRF a syngap mom one  of them is an SRF board member for many years  

0:36and one of them is the rare disease lead or  citizen AKA and BJ and we are very grateful  

0:43to both of them because SRF would not be  as successful as we are without them and   then there’s three other people on the screen  who I will ask Virginie to introduce because  

0:50this is really her show but before  we jump in I just want to point out   how exciting this is because something really big  is happening here right we have we have a company  

0:59in Praxis who is working on syngap Therapeutics  and they have partnered with citizen slash nbite  

1:07to accelerate their work and now they’re asking  a really important question which is okay how   do how could we handle seizures and I’m gonna come  back to how important it is that all of us do this  

1:17tracker later because tracking seizures for SYNC  apps are really complicated and I think the sooner  

1:22Praxis and others find the best possible way to  track our seizures the better but I all I want  

1:29to say aside from that I want to say two things  one I told you over a year ago that citizen was   important and companies would use it to accelerate  sync up research and I’m right it is happening

1:45go and sign up immediately when there are fresher  records if you haven’t done so in the past six   months and then point number two this isn’t Just  For Education this is a call to action to do  

1:57something useful which everyone will talk about  so I will shut up sign up for citizen repress   your data thank you to everybody here that’s the  most important message thank you to everyone here  

2:04we’re all working for the same thing which is  therapies for our kids and with that Virginie   hi everyone thank you for joining really excited  about that webinar and I want to introduce today  

2:15Kelly dalby and Karen Utley from Praxis and I’m  gonna pass it on to them I really want them to  

2:21share their story uh with you guys they’re both  wear moms uh so we are in great company they  

2:27get it they understand what we’re going through  and they’re fighting for our kids they’re in our   corner and so I just wanted to open the room to  you guys and thank you for being here we’re really  

2:38excited to have you yeah thanks Virginia we’re  happy to be here also and I’ll just I guess I’ll   quickly just give you an overview of my story so  um one of my sons his name is Connor he’s 13 years  

2:48old he started having seizures at eight months  old and at that time SCN2A was not yet on the  

2:56standard genetic epilepsy panels and so we went  undiagnosed for the first five years of his life  

3:03and his seizures were Relentless he had a ton  of other comorbidities and I was just of the   mindset that we have to get a diagnosis if we  find what’s wrong there will be a solution and  

3:13when we finally did egg Zone sequencing when he  was five years old I was shocked by the news that  

3:21he has an essay into a mutation and I’m sorry  there’s nothing we can do we don’t know very   much about it and we have nothing to offer you  and so I now that we at least knew the problem  

3:33I wanted to figure out a solution and so I just  started calling scientists in the area and trying   to find other parents with this disease but I  ended up starting a biotech company with another  

3:42parent and a scientist called Raj Khan after our  two sons Roger and Connor and I was really just  

3:47devoted to discovering treatments for SCN2A and  I know in other diseases I didn’t want this just  

3:53studied for you know a few decades I wanted to  find a solution for my son as fast as I possibly  

4:00could and we had some luck with an ASL program  we had great proof of concept and mouse models  

4:07and other and other models and so when it came  time to partner the specific program for SCN2A  

4:15Praxis to us was the perfect choice just with  their pipeline over the genetic epilepsies  

4:22they were all about speed and how do we get  to patients as quickly as possible and so we   licensed the program to Praxis I’ve been working  at Praxis now for three years I was in clinical  

4:32operations and just with the work that we’ve been  doing with citizen over the last couple years I  

4:37absolutely fell in love with this initiative and  see how imperative the data collection is to our  

4:43genetic epilepsy programs and so now for the past  I think two months I’ve been running our natural  

4:50history and Diagnostics program in epilepsy and  I also have to say that so incredibly impressed  

4:57with the syngap community you know when we chose  the cohorts of interest for this calendar year  

5:02syngap already had 150 page patients on this  platform and so it wasn’t a matter of having  

5:09to recruit and wasting time we were literally  handed the extracted data almost immediately I  

5:15know they’re still collecting the raw EEG  tracings because that’s very important to   us at practice but what a great Community this  has been all of my interactions to date so far  

5:23with the Syngap Research Fund has been just  fantastic and top-notch so I couldn’t be more  

5:30excited to be here today and to be working  with you guys on this program for Praxis

5:37okay so I guess I’ll go next I’m Karen Utley  I am very new to Praxis but I’m very excited  

5:46about this position as their patient  advocacy lead in their epilepsy program  

5:51um much like Kelly my daughter Samantha she’s  she’s my youngest of three girls but she was  

5:58diagnosed with CDKL5 deficiency disorder when  she was 20 months old she’s currently 15 so  

6:05I don’t even think there was an epilepsy panel  when when she was born and her seizures started  

6:11um she was about 10 weeks old when she had what I  now know was her first seizure we didn’t recognize  

6:16it as seizures at first and of course they  escalated and it became very clear she started  

6:22missing milestones and we were on a I felt like a  a Chase to save her life I mean I was to a point  

6:29I just wanted a diagnosis so she wouldn’t die  I felt like I was probably fighting a window  

6:35of time that was my biggest fear right that there  was something we could do but we just didn’t know   it and I’m of course much like Kelly I got that  diagnosis and was told we don’t know anything and  

6:48I I was at a world renowned institution and they  handed me one research article that basically said  

6:55CDKL5 may cause problems basically right and  he said when you read this you know you’ll  

7:02know everything I know and I thought wait a minute  you’re an expert I need to know more than that and  

7:09um long story short I found a Yahoo support group  that had a few parents in it and we started the  

7:15International Foundation for CDKL5 research  and that’s when I started learning about Mouse   models and IPS cell lines and the importance  of a registry and all of this stuff I had no  

7:26idea I would ever be interested in because all I  ever wanted to be was a mom and suddenly I needed   to be a mom a doctor a scientist everything and  I’ve done a lot of work with the ifcr and that  

7:38has led to some experiences that made this  job just seem like a perfect fit because I  

7:43love the de Community my heart is here and  I want to help and I see a company that I  

7:50feel like is going to help and to get to be  a part of that is very exciting to me so so  

7:57I think that covers it thank you Karen I  will say please um if you I am the patient  

8:04advocate so if you want to reach out to me my  email is my first initial and my last name k   Utley at praxismedicines.com so feel free  to reach out it’s always great to connect

8:17thank you Karen really excited to have you here  uh and uh thank you Kelly for pointing out how  

8:23incredible our community is I know Mike Lauren  Corey and I always keep saying please sign up for  

8:30citizen please sign up for citizen and hearing it  from you makes a big it’s a big deal uh so to all  

8:37the parents out there who have already signed up  thank you uh as you can see your work and being  

8:43proactive paid off uh we were able to deliver  150 patients to Praxis we cut down the time of  

8:50recruiting we’re ready to go and today we are here  for another effort that I’m asking the community  

8:58to rally and and engage and participate and it’s  the seizure tracker uh Kelly do you want to say  

9:04a little couple things about why we’re doing why  are we asking the community to go over 30 days of  

9:10filling out seizure information yes absolutely  so um like I mentioned the the data that we’re  

9:16getting the extracted data we had two previous  cohorts we had an scn2a cohort and an scna day  

9:22cohort um and for two separate drug programs and  so this data enabled us to select scales because  

9:28there’s information about that and the citizen  data select our endpoints and obviously in these  

9:34two diseases seizures are a primary endpoint not  that that is the only comorbidity by any means  

9:41um seizures are a symptom among  many but it’s easy to measure   um to see if the drug is helping and so really in  the extracted citizen data the seizure frequency  

9:52updates are happening in the medical records as  often as the patient is seeing the neurologist  

9:58and we really with this seizure tracker want to  track over 30 days what seizure types is each  

10:05patient having and what is the frequency of those  seizures so to really thoroughly analyze that over  

10:11a 30-day period to help us set in the protocol the  IE criteria of seizure type seizure frequency so  

10:18it’s it’s this knowledge that we’re going to gain  will directly impact the drug program that we have  

10:25in syngap so it’s incredibly important um and  we know I know personally filling out a seizure  

10:31tracker for my son is depressing it’s annoying but  it takes time I don’t like anything about it and  

10:37so we’re also offering just for your participation  for doing that a hundred dollar gift card just   like for our you know thank you um and hope that  you know helps a little bit but um yeah that’s the  

10:49point of why we’re doing this we need this data  thank you Kelly so if you’re here we’ll go over  

10:56um how to participate in that seizure tracker  and go over key information uh but please uh  

11:03we’ve already showed up with citizen let’s keep  going and uh let’s have as many patients as we can  

11:09enroll in a seizure tracker to really understand  how the seizures are affecting our kids uh that’s  

11:16important that is the one thing like Kelly  mentioned it is not thorough in the medical  

11:22records you’re not calling your neurologist every  time your kid is having a seizure so that data is  

11:27a gap in the medical records and that’s where we  need your input we need your point of view uh and  

11:33and participating in that seizure tracker is going  to really help with the drug um Discovery and uh  

11:40and I can get the treatment faster so I’m going to  jump in at Kelly Karen do you guys have anything  

11:45else to add before I jump in my slide or Mike  looks like you have something to add yeah I do

11:55I’m just so excited I’m just so excited  that we’re doing this but I wanna I wanna   underscore one point there were two points  right so we jumped in and we’ve got this  

12:02incredible team from Praxis and we have Ivy  and Virginia here from um citizen slash I  

12:08really wish you guys would just pick one name  it’s very hard to say but I’ll follow them but  

12:13so for the community like let’s remember and if  you don’t remember episode 58 of syngap10 right   I talked all about practice when they announced  their ASL program and so let’s just let’s just  

12:22connect the dots Praxis launched the program we  haven’t publicly said I believe that Praxis is  

12:28licensed to Citizen data Maybe I have said  that I don’t know but practice is using the   citizen data and now what’s happening I feel like  Virginia’s just might have might have skipped this  

12:37like saying this in all caps so I just want to  say because I like to say things in all caps   Kelly mentioned we are now launching a seizure  tracker because we want richer data that we can  

12:47get from the medical records because Praxis is  serious so the takeaway here is Praxis who is a   company that is accountable to shareholders that  needs to make money is spending money on learning  

12:56more about syngap so we as singap parents should  feel warm and fuzzy inside because that someone’s   getting serious about syngap that’s exciting but  we need Rich data so that there’s an Ask here to  

13:06ask you to participate for 30 days in the tracker  which Virginia is about to show you how to sign up   for and why but before we go there I know there’s  one question that’s going to be top of mind for  

13:16people so so Kelly and Karen I don’t know how you  want to answer this syngap is a tricky Beast right  

13:23a lot of our kids when medicated it’s not obvious  it’s not like like cdkl5 or scn where you you can  

13:30see the seizures so some parents are going to  be asking themselves right now do I even need to   watch this like if I can’t see my kids seizures  should I be filling this out and and and in  

13:40discussion different answers have been posited and  one of my answers is yes fill it out because even   if you have 30 days of light data that’s going  to give Kelly and Karen stuff to go back to the  

13:49science team and practice and talk about maybe  we need to use eegs more and or other things so  

13:54before we before we go down the path of how do you  sign up for this which every single family should   do every single family should sign up for this  who doesn’t need 100 bucks who doesn’t want to  

14:03get a drug for our kids can we just talk about  if if if parents don’t see that many seizures  

14:11should they still do this Kelly yes we want to  know that absolutely um if you think there’s even  

14:16a remote possibility that your child may have a  seizure in a 30-day time frame yes please sign up  

14:21and please fill it out I will also add that part  of Citizen um what Praxis is doing with citizen is  

14:28we take in every single EEG that citizen is able  to obtain from the first EEG all the way to the  

14:36most present and we are having those analyzed for  background for seizure activity a very thorough  

14:44um initiative and so we have that coupled with  then a Thursday 30-day seizure diary so yes take  

14:51it if you think there’s a remote possibility your  child will have a seizure in one day out of 30.   please take it and that’s and that’s huge news by  itself right just the fact that Praxis is funding  

15:01the collection of eegs yes so let’s let’s review  practices is licensing the citizen data they’re  

15:07paying more money to have citizen call on these  crazy EEG labs and collect this immense amount  

15:12of data which is a massive undertaking and they’re  doing this seizure tracker and then with all that   data they’re going to figure out how to do a  trial for an ASO for SYNGAP1 this is like we  

15:21I’ll be doing the happy dance and then we should  sit down and listen to Virginia and sign up for   the seizure tracker because this is exciting okay  sorry I’ll go back off screen so you can party  

15:32no I like your enthusiasm mic I’m always really  excited every time we talk to the Praxis team  

15:37and now that this webinar this is a big deal guys  uh we have a Pharma company I know we keep saying  

15:43it there’s a Pharma company serious about it  that are going to look at a treatment for our   kids this is not in the distant future maybe in a  pipeline or anything they’re looking at our data  

15:55so now uh let’s jump into the  presentation and how we get to it   how we start uh how we participate if my share  screen is happy or I don’t know let me see

16:14all right before we jump into seizure tracker  little citizen of dates and I’m as you know  

16:20I’m wearing a few hats so I’m gonna go with  the SRF advocate with a mom and citizen so  

16:29179 patients are fully onboarded in our citizen  database this is great great job High numbers for  

16:40a very rare disease and like Kelly said this was  we have data ready anyone who wants to see this  

16:47data it’s ready uh for 179 page syngap patients  our goal is to get to 200 by the end of the year  

16:56so if you are not onboarded yet if you have  not finished this 18 people are started and  

17:01have not finished reach out to us reach out  to me reach out to Michael whoever you want   to reach out to Corey Lauren and make sure  you are on there this is literally a way to  

17:13put your kid in front of researchers and Pharma  companies without sharing personal information  

17:21uh so just a quick recap if you are new uh to the  syngap community and I have not heard of citizen  

17:28we collect medical records on your behalf  you have access to those raw medical records  

17:34the citizen team extract the key data  from the medical records and we share   that de-identified data in an organized  way with researchers and Pharma companies  

17:44uh and it’s valuable data proof practice  is using it they’ve used it on many cohorts  

17:51data is high quality and it’s saving us a lot of  time compared to regular Natural History studies  

17:58uh second point we are now collecting EEG tracing  this is hard hard work it’s really hard to get our  

18:06hands on the EEG tracings and there’s so much  information and the technology to be able to  

18:12analyze the the EEG tracing it’s complicated but  Praxis is doing it this is very exciting now if  

18:19you’re already on Citizen and you’re like well  I don’t see my EEG tracing on my dashboard you   want because this is like massive file it’s it’s  complicated there’s no point of us having access  

18:29to it to be honest all we need is like the summary  that’s enough as a parent but the EG tracing the  

18:35the raw data is going to practice and they’re  analyzing it um so we might our team might reach  

18:43out to you if there’s mention of eegs and just to  confirm that the where we can push to get all the  

18:50tracing because we need as many as we can so if  you get an email from Mikel asking where do you  

18:56get an EEG please respond that’s super important  for us to get our hands on every single EEG

19:03other update citizen launched an updated dashboard   so I’m going to jump off this screen and  quickly show you what that looks like  

19:12because it’s exciting it’s pretty it’s prettier  than it was it wasn’t really pretty before it  

19:18was a little messy but now we have that disease  summary integrated in the in your dashboard and  

19:27the Disney summary is pretty much everything  that we’ve extracted from the medical records  

19:32we’re sharing that de-identified with researchers  but you have access to that data in your summary  

19:38and with this live summary what you can do is  look at the provenance so if you’re like I’m  

19:45not sure who wrote that or whatever it is you can  click on the document it’s going to take a while  

19:54to preview but it will show you the documents that  mentions like the Singapore diagnosis this should  

20:00be my genetic report and everything that has  been found in ties records is on that timeline  

20:06uh and then you can just drill down even more  this is super useful for parents I love it we  

20:12used to have to log in a different place it’s  now in your dashboard you can access it anytime  

20:17other thing that we wanted I wanted to show today  is don’t forget so you’ve signed up sent to them  

20:23some of them two years ago don’t forget to go  out and ask for an update on your records we want  

20:30them the cleanest and you know the the latest  data so you can go to manage on your dashboard  

20:38the fastest way because I haven’t seen any new  doctor I go to institutions so it shows everyone  

20:43that we’ve collected records from and then from  there I’m going to go to my epidemiologist you  

20:48click on request latest records and so our team  is going to go out and collect the records you  

20:54should start seeing them in your in your dashboard  uh and when it’s time we’ll do an update on your  

21:00summary to to do a new data extraction so every  six months or so just don’t forget to do that  

21:06that’s important to have the latest data and again  so that’s a new dashboard you can access it from  

21:12your phone or computer but the very exciting  part is that you have that disease summary

21:19all right so I’m gonna jump back sorry it’s a  lot of back and forth but a lot of information   to cover today and then yeah don’t forget to  uh update your records every six months to  

21:30log back in summer on to get your summary it’s  app.citizen2i.com and if you have any issues  

21:37just reach out to me all right seizure  tracker here we go who can participate  

21:44single families if you fully signed up on  citizen why because we need a complete set  

21:50of data we need your citizen data your EGS and  your seizure tracker that’s what’s going to give  

21:56the clear picture of what’s going on so if you’re  not sign up on citizen yet that’s fine sign up and  

22:02then you’ll get an email to start the seizure  tracker once we have all the records collected  

22:10how to participate I’ll show you I’ll walk through  all the slides all the steps but you should have  

22:16received an email with an invitation from in Vita  research studies with an invitation to participate  

22:23in the rare neurological disorder study so it’s  kind of a standard email but I’ll show you what  

22:29it looks like just click on that email accept  the invitation and then start following the steps  

22:35if you are fully signed up on citizen  I think you’re fully signed up on   Citizen and have not received that email  reach out to us and we’ll figure it out  

22:46timeline uh we would like you to start the seizure  tracker no later than September 1st I know there’s  

22:53some chatter in the in um support group saying  well my kid only has seizures at school doesn’t  

22:59start doesn’t start school until September just  start uh by September 1st if you need a little bit  

23:09more days let us know but uh the idea is like to  be successful and collect as many days as you can  

23:17um and we can’t drag that on too long because we  want Praxis to have the data as soon as we can  

23:23um and again it’s like 30 full days so   it’s painful I mean Kelly said it so I can say it  it’s a little painful uh but also helpful some of  

23:37you have already done a seizure tracker last year  I believe um so it it went by fairly quickly and  

23:45that’s good information like I I remember figuring  out I was like oh now that I have to count   he has more or less than I thought uh so it’s  interesting information on the parents perspective  

23:57if your child doesn’t have seizures should you  participate so there’s two kind of uh scenario the  

24:04one that we covered earlier um your child doesn’t  have a lot of seizures mainly controlled you can  

24:10there’s a question about does your child have  a history of seizures say yes to that and it’s  

24:15okay to say zero for every month but for every  day it’s it’s completely okay uh take it it’s it  

24:23once you’ve signed up and laid everything out it  takes one minute every day uh that will be helpful  

24:29if your child does not have never had a seizure  um it’s good for you to still answer that question  

24:37and say no that we will know okay there’s you know  number one will know that the syngap community is  

24:43ready to participate in research because we  have a high response rate uh even if it’s in  

24:50no category but just let us know and we’ll be  able to share that information with practice  

24:56compensation so you will receive a hundred  dollar if you complete every single day   for 30 days if you have 28 not eligible  30 days because that is very important  

25:09um and if you skip days I’ll show you it’s okay  you can go back and and backfill it uh try not to  

25:15get too much Gap in between the days because you  we tend to forget what really happened from day to   day all right so let’s jump on and I had to sign  up this is the email you’re gonna get from invite  

25:28click on read it I didn’t read it because I never  written and I’ll go through the button right away  

25:34uh but you can read it to have more information  and then click on uh accept your invitation  

25:41that will take you to pins to our a different  platform so it will not look like it’s not part  

25:49of your citizen profile we’re using a different  platform for surveys so I know that’s a little  

25:54bit confusing uh but the data is linked so  and it’s linked by the email address you use  

26:00on your citizen account so everything is linked  it’s just a different interface uh to track your   your seizure tracker so uh if you if it’s going  to be your first time on that platform so click  

26:11on sign up it will have quick information on  how to create an account the email address  

26:17please use the same email address you use for  your citizen account and that’s the inbox where  

26:22you received your invitation email so if you  don’t know if you have if you’re like me you   have 10 email addresses you don’t know which  one it’s the one that has the invitation email  

26:31and if you’re not sure send me an  email and I’ll be able to tell you   then uh once you fill out that form it will  ask you to verify your email address and I  

26:41promise the first like getting the account  set up is kind of like the most painful it   takes like I don’t know five to ten minutes  depending on how you’re navigating through  

26:50the questions but after that every day it’s just  like literally one minute to log your seizures  

26:56so this is just like the the first part is a  little painful you will get the email to validate  

27:03your email address then you get back to uh the  login information where we want you to log in  

27:11I’ll have those slides I’ll post those  slides on the citizen uh srf group  

27:17and then we can email them out as well  if you want the detailed instructions   then we have to fill out a quick survey um this is  just basic demographic information the first two  

27:28questions Health reason for registration and other  reason for registration there’s a drop down menu   with three disorders listed there’s scn2a pcdh19  and syngap on those two please select sync app  

27:39I mean obviously uh this is why you’re here uh  it’s a syngap study and then fill out the rest  

27:46of the information you won’t have to touch that  survey ever again then we get to the consent phase  

27:53so there’s like at the top of the screen there’s  like several questions who are you willing to   share your data with that’s up to you who you’re  sharing as a yes to everybody because I want my  

28:04kids information to be out there and and share  with researchers and advocacy group and all that  

28:10um the one that I will flag if you say  no to all the other but you say yes   to the last one please it’s not marketing  email so we’re not going to start sending  

28:20you a bunch of ridiculous marketing  emails this is to get your reminders   and that is super helpful because I started  my seizure tracker as a test two weeks ago  

28:32and I did not get those emails because I said  no to that and I forgot to fill out my survey  

28:39I forgot to fill out my seizure tracker so please  say yes so that you can get those email reminders  

28:44and it will allow us to if there is another  survey that you’re going to need to fill out   down the road uh to email it to you quickly um  and with your consent so that’s the consent part  

28:57at the bottom just um for ease of use you don’t  have to reset your password you can skip those  

29:05fields they’re optional I was confused about  why they were there you don’t have to reset   your password you just set it up so no need to to  reset it again you can you can skip those steps  

29:15all right now you’re logged in you have your  account we’re getting to the this year’s business  

29:21in the to do you’ll see two two items  Simon Searchlight consent and the seizure  

29:26type survey we’ll start with Simons what is  that consent about this allows us to share  

29:33information with Simon Searchlight if you’re not  familiar with Simons that’s a whole different  

29:39webinar that we need to do sign up on  assignments it’s Rich information lots  

29:45of surveys great feedback from families so  just sign up on Simon’s it’s another database  

29:50pretty much where that collects information  on your on your child and the reason we have  

29:56a partnership with Simons is so that we can link  the unique identifiers so if Praxis or other or  

30:04researchers want access to the two data set they  aren’t able to know without identifying anybody  

30:11you know this patient in assignments equals this  patients and Citizen and so that way they have the  

30:17full picture of uh they have Rich data so consent  assignments first and that’s it’s optional you  

30:27don’t have to but it’s just again it’s going to  help create a reach data set on on sync app data  

30:35and it’s quick you just say I consent next  then click on your profile and then you’re back  

30:42the next survey is a seizure type you’re  only going to have to take that once  

30:47and that’s a really that’s a smart way I  think to to do a seizure tracker we all  

30:54describe seizures in a different way if you  remember the previous tracker that we’ve done  

31:01we had a preset list of seizures and to be  honest I had to Google half of them because  

31:09that’s not how I describe my kid’s seizure  I have no idea what’s the medical term for  

31:15some of them and so this really allows you to  set the four seizure types in your own words  

31:24and I don’t know if Kelly and Karen  you guys want to jump in on that to   yeah and and so like Virginia said if for example  let’s say type one you write down tonic because  

31:35that’s how you describe your child’s seizures or  maybe you don’t want to put a name to it but you   want to describe what happens and maybe it’s  right arm raises left arm goes out face turns  

31:45to the side and that is fine however you would  describe it or if you want to put a name to it  

31:50but then that would always be your type 1 seizure  and so then when you’re well I’ll let you go into  

31:56the next part yeah when we’re filling out the  survey you’ll have you’ll have reference of those   four types of seizure that you’re referring so the  enter the four most common types the one that you  

32:07see on a regular basis I think for you’ll see what  I’ve entered for Ty but that’s open text so enter  

32:16what you’re comfortable with how you describe  your your seizure and the first uh above that  

32:21yeah sorry the question does your child have a  history of seizure that’s the one that I mentioned  

32:27earlier click yes if they had at least one seizure  in their life no if they’ve never had a seizure

32:34once you fill that out you get to the  Daily seizure diary and that’s where   you’re going to start filling it out  every day so this is what it looks like  

32:43at the top you see Ty seizure type I entered  iflutter I know that’s not a scientific word but  

32:49that’s how I call it uh absence complex partial  that one I had to Google because his are super  

32:55weird uh and they fit in that category and I’m  tonic and so you uh just if you forget which one  

33:03is one you’re always gonna have that seizure types  with type 1 type 2 type 3 Type 4 as a reference  

33:09and you can see at the bottom you will have  the four types and then how many you’ve noticed  

33:15during the day so from 0 to 10 plus so that’s what  you have to fill out every day and then the date  

33:22is for the date you notice the seizures so not  necessarily today I usually report what I’ve done  

33:29is I report today what happened yesterday that  way I have the full day I’m not missing if I do  

33:37at noon today and he has like 10 more seizures  during the day I’m missing that data so really  

33:42it’s a good idea to start to record to record  the the previous day so you have the full picture  

33:49in that a few tips like we really want to get the  better picture so if your child is at school or  

33:55with another caregiver with therapists during  those 30 days ask them to count and ask them to  

34:02describe what they’re seeing that’s very important  because we don’t want to have we can’t you know  

34:07it’s not just your what you see it’s during the  entire day so get your team together tell them  

34:15you’re doing a seizure tracker and here are the  four types that you’re seeing and help have them  

34:21help you count that that’s that’s very important  that’s something by the way we should always kind  

34:28of do because that would give us a real picture  of how many seizures our kids have and when we are  

34:33upping medication or changing or everything  we should be able to have that information  

34:39um but it’s very very critical  for that 30-day period once you’re done it will be that seizure that  daily seizure will be under the completed list  

34:50that’s where it becomes a little finicky   um when you come back the next day you’re gonna  click on daily seizure diary click on the name  

35:00of the survey and then do retake survey and that  will open up again so every day that’s all you  

35:06have to do you log in on your profile click on  daily seizure day retake this survey and it will  

35:13be cleared out and you have a new date and then  you can see the diary entry right here so you   can see all the different dates as you go you’ll  see all the different dates so if you’re missing  

35:21a couple of dates you’ll be able to track which  ones you’ve missed so that’s important again you  

35:27need 30 days so if you skip a few days go back  to your history to see which ones you’ve missed

35:35and at the end and then this is the daily reminder  so if you script subscribe to your uh to the email  

35:42um being sent out you will get this every single  day in your inbox reminding you to take the survey  

35:48and then um you can click on daily seizure diary  and they will take you directly to log in and then  

35:54take your survey if you miss I believe two days  Ivy correct me if if I’m wrong here I think if  

36:03you missed more than two days yep it’s actually  up 48 hours 48 hours you will get it oops email  

36:11with a gentle not nudge to like please do it  and we will send frequent reminders also on  

36:20the Facebook on the citizen SRF Facebook group  to make sure you guys are not forgetting that

36:27all right so quick summary  and then we can go to the Q a   um Simon’s bi-directional consent this is optional  but important to be able to link the two databases  

36:40um every day when you need to take your daily  diary click on the name of the diary and retake  

36:47that’s those two steps it’s two clicks fairly easy  you need to do it every day for 30 days and that’s  

36:55how you’re going to get your compensation your  hundred dollars and that’s how we’re going to   get the most uh the cleanest data out of it check  the history to see which days you’ve missed you  

37:05can backfill so if you missed you know two days  ago you can enter that date for two days ago  

37:11School providers that you get the and and and  caretakers so you can have the the biggest picture  

37:18and have the exact count exact count is kind of  hard let’s face it because some of us it’s like  

37:23it’s hard to capture they’re so quick but be as  precise as you can if you have questions want  

37:33to get reminders and get updates on the citizen  data and all the different studies join the srf  

37:43citizen Facebook group you can search it and then  just ask to join it’s a private group but we share  

37:51good information related to Citizen on there and  any question you can always reach out to me this  

37:57is my invita email address if you want my syngap  research fund it’s Virginia syngapresearchbin.com  

38:04or dot org uh and and you can also find  me on Facebook and whatever I’m I’m here

38:13and that’s all I got so I don’t know if we  have any questions if the Praxis team if you   want to do any closing argument and then  Mike if there’s anything you want to say

38:28Kelly Karen I don’t think I have anything else  to add I think you did a great job Virginia if  

38:36um taking everyone through uh how to start  filling this out and how to register I’m   group yeah okay so let’s um so let’s go through  let’s there’s a few questions in Q a and and I’m  

38:51really excited to see um there’s about 20 parents  in the audience and there’s another I last time I  

38:57looked six watching on the Facebook live and  then this will be recirculated and we will  

39:03pound the table so a lot of people are going to  watch this so if any family members want to just   ask questions live just message me or write it in  the chat or whatever but let me go through this JJ  

39:16reiterated my point about what if I don’t know if  my kid is having a seizure because he’s already  

39:22on three meds and I think the answer there  is you know because actually it’s it’s the  

39:28point to make here is we know he’s on three  meds because we have citizen right so what’s  

39:34beautiful if what’s beautiful about this is  because citizen is collecting your medical   records and synthesizing your data we don’t have  to ask you to type whatever you know clovisam or  

39:46Onfi or whatever I can’t spell on fear I mean I’m  dyslexic and these men these these drug names make   me crazy but you don’t even have to fill in and  tell citizen what drugs you’re on because because  

39:54we have your medical records citizen slash Praxis  will know that your child is already on three  

40:01meds and then they will have the EEG tracings and  then they will see you say I’m not sure maybe you   had one maybe a two maybe he had ten and then  they’re going to be like wow I mean hypothesis

40:13is gonna see and hopefully share this information  so that everybody can appreciate it’s really hard  

40:20to compare what the EEG shows what we show but  the only way to do that work is to take all the  

40:28medical records and the eegs and the patient  reports and that’s a ton of work if we were   paying for this ourselves it would cost a lot  of money Praxis is spending real money for the  

40:36benefit of our children and all we have to do is  log in 30 times in the next 30 days so I’m I’m on  

40:43bended knee here this is this is everybody can and  should do this and and thank you Praxis Kelly and  

40:49Karen for paying for this um and then Nicole is  asking how do we request an EEG tracing from the  

40:57doctor not to beat a dead horse you don’t have to  me too virginity yeah our team is doing it this is  

41:06why way back when. SRF chose Ciitizen because it  was a low lift for families we Citizen and Vitae  

41:16do all the work all you have to do is sign up 10  minutes and then we go out and collect the records   then what we do is once all the data is extracted  we are able to tell where the eegs have been done  

41:30and because it mentions in the medical records it  reference EEGs and so then our team goes out with  

41:36that information and requests EEGs so you don’t  have to do anything in some cases we’re seeing  

41:43that their eegs mentioned in medical records we  put in a request the hospital’s like we don’t have  

41:49any eegs so we come back to you and it’s like can  you verify that the AEG was done at this Hospital  

41:54Etc and if it it’s the case then we’re sending  the Bulls like we need those EEGs that’s how it  

42:04works so you do not have to do the work it’s it’s  so painful to collect those eegs it’s not on a  

42:10family’s uh it’s not your job to do it it’s our  job this is what citizen is doing yeah and I’ll  

42:15also add that’s one of the things I liked about  this initiative is it was so low burden for the  

42:21caregivers and something that I learned in this  process was my son’s data he’s 13 years old the  

42:27institutions only have to hold the data for seven  to ten years and so that data would have been lost  

42:33well the first EEG the medications he was on all  the different symptoms so now I have that it’s in  

42:40my parent portal it’s invaluable I as a parent  can share that with anyone that I choose so I  

42:46just want to add that yeah no that that’s that’s a  really good point especially when we’re trying to   get we’re trying to build a natural history on  the on the disease so understanding how how it  

42:55starts how it evolves how it affect the patients  and if we’re missing those those early years we’re  

43:01missing some of the picture so sign up as soon as  you can so we can get those that data sooner than  

43:08later there’s two more great there’s a few more  great questions in here I just want to make a  

43:13um Virginia can you stop stream sharing  let me just go to our beautiful faces   um before I before I go to these next few points  I want to just encourage the the 20 parents that  

43:24are watching this live right now to really go  into the groups the regional groups the the  

43:30Global Group the syngap group all the groups and  just please people are so sick of me saying this  

43:36but it might be refreshing if they heard it from  you like every parent can sign up for citizen at  

43:42no cost every parent can do this for free and by  sharing that data we’re helping all of our kids  

43:48so you know there’s two asks in this [ __ ] three  asks sign up for citizen take the seizure tracker  

43:54and then please do a little bit of evangelizing  um because we need as many parents as possible to  

44:00sign up for this to get as much an understanding  of syngap as possible okay enough of that JJ is  

44:06always asking great questions any advice for  asking schools to recognize and count seizures  

44:13any advice I I can only share what I did as I  sent out a note and I was like I’m participating   in a study and uh I need teacher provider Ty  has a one-on-one at school um if they have a  

44:25if they see seizures to track it I’ve actually  started last year when we were doing when we  

44:31did the first teacher tracker and they kept doing  it so now it’s part of our daily communication we  

44:37have a spreadsheet where they add the comments of  the day and then they we have a seizure accounts   uh column in the in the spreadsheet to count  how many seizures I’ve seen during the day  

44:48so that’s something that should be done  that’s in that that’s my opinion as a  

44:53mom uh but I would definitely tell them  it’s important you’re part of a study  

44:58there’s treatments in the pipeline we need to  understand how many seizures he’s having a day  

45:03and that’s frankly I’m sorry Karen go ahead  all right I’m just going to interject one of   the things I do some of Samantha’s are hard to  recognize so if I can capture on videos and then  

45:13I have that to show the caregiver and say if you  see this this counts like you may think that I  

45:20deviation is not a big thing but it is you know  so that’s that’s a good tip as well if there’s  

45:26something that may be hard for them to recognize  if you can capture it and show them then they can   catch it better yeah that’s I I have I created  an album on Amazon that you can share with a  

45:37link and it’s at the top of that tracker that  way anyone can that have access to that tracker  

45:42can always look at it and and reference I still  have teachers caregivers say oh he was looking  

45:49he was fascinated by the light today and I was  like well that was probably gonna have songs um  

45:55you know it’s in the video please go back to the  video Samantha’s new one is teeth grinding well  

46:01sometimes she just grinds her teeth so if you hear  her grinding you better look if she’s clamping her   hands and looks kind of red that’s a seizure  it’s not teeth grinding so yeah there’s always  

46:13weird efficacies yeah and I I I mean I’ll  just observe like Ty Tony has an a one-on-one  

46:21and like Ty I get a daily report unlike Virginie  I I don’t read it every day honestly um but I  

46:27probably should and um I think getting those  one-on-one AIDS to think about and return seizures  

46:34because yesterday we’re taking Tony for a walk  he was chilling he was walking all of a sudden he   starts blinking a lot and and then he was really  uh hard to handle for an hour and it was like  

46:44the most classic case of everything’s fine seizure  behavior gone to bad places so yeah I think that’s  

46:52the that’s the advice JJ is just find the person  who spends the most time with them and beg them to   to report it and then Roy is going a little off  topic into Tech land but it’s a cool question  

47:02are there any signs of seizures we can get from  a smart watch any thoughts on this wearables of  

47:07seizure detection Kelly have you thought about  this at all I know that one of the wearables that  

47:13we’re using um for one of our other um programs  it only detects tonic clonic seizures and so then  

47:20you’re missing all of the other potential seizure  types um the patient would have so sure if you  

47:27want to just pick up tonic clonic seizures  but if your child has other types that you  

47:33want to capture I that’s probably not the way  to go and I would say with you know syngap in  

47:39particular as most of you know Tai has a service  dog and uh we have the Sami camera in his room  

47:48that does not pick didn’t never picked up most  of its seizures since we have the service dog   sleeping with Thai almost every night when he  falls asleep she alerts I can’t see anything  

48:00um but she knows but we know from the kadam  paper that that’s what our kids do they fall   asleep they seize they try to sleep whatever um  Susie Byler is a grandma who’s on those and is  

48:11saying her daughter has absent seizures just  diagnosed with syngap last month you guys can   read the whole thing in the chat um she fires  off a lot of seizures in her sleep and then we  

48:22know that because she wets her bed now she’s  10. so yeah Susie I I’m honestly I I no longer  

48:28have the spreadsheet in my head if you aren’t  if she hasn’t signed up for citizen please sign   up for citizen and then you or someone please do  the seizure tracker we need all the data we can  

48:37get to help her and other kids this is I just  want to make the point I mean we have cdkl5 we  

48:43have scn are you you’re 2A or 8A Kelly I mean  CD Cal 5 scn2a very Advanced groups they have  

48:51therapies syngap we’re a hot step behind them I’m  not exaggerating when I say there are hundreds of  

48:57other rare diseases but if they were watching this  webinar would be read with jealousy yeah yeah we  

49:04have a drug company working we have citizen in  place we have studies happening that are that  

49:10bring us right to the precipice of a therapy  yeah another great thing that I love about the  

49:16citizen platform this data isn’t just for Praxis  right like we just want drugs for our kids and so  

49:21this is Open Access Data any biotech company any  pharmaceutical company can come in and license  

49:28any one of those cohorts that’s so important um  I feel as a parent if I take my Praxis hat off  

49:35yeah yeah and one thing that I will  piggyback on on what you just said Mike  

49:42um we’ve had success recruiting for citizen  recruitment is top of mind for Pharma companies  

49:52literally that is the first question when they  come to us they’re like how many patients do you  

49:57have in citizen so we tell them and then do you  think if we have a clinical trial that we can  

50:04engage those patients that that is the that’s  the bottom line if you it’s great to have a  

50:10natural history study it’s great to have patients  there but we need to show those Pharma companies   Praxis and others that we can show up when it  matters meaning when there’s a clinical trial  

50:19it’s not going to take month and months and  months to reach out to patients and recruit  

50:25that is so important and right now singap has a  reputation of showing up and this is right now  

50:32it’s 30 days we did the 10 minutes thing sign up  for ciitizen great now it’s 30 days can we do that  

50:39can we get all 179 to do that and then the next  step is going to be eventually clinical trial  

50:45that is so important yeah I want to I want to  just bring it home because we’re coming to the  

50:51bottom of the hour Virginie when does it start  when does it end I mean I realize you want 30  

50:57consecutive days of data but is there a time  frame inside of that like what’s the deadline   so it starts it I think everyone got the emails on  Monday this week so if you have the email in your  

51:09inbox you can start and we would like everyone to  start no later than September 1st so that we can  

51:17get an idea of we have X amount of patients  taking the surveys because it takes 30 days  

51:24um and I’ll take talk let uh Kelly say if there’s  extensions or anything but we really want to get  

51:31as many families as we can in that short time  because then it takes time to get that data  

51:37back and then I have to go out and look at the  citizen and eegs again speed up so the answer is  

51:44I love I love I love doing webinars in Virginia  because then people don’t say Mike you talk too   much I’m like well look at Virginie but but  really it’s so the answer is September 1st  

51:55like we need to start this no later than  September thirst but ideally tomorrow and   then the question is for today will be fine too  um the question is is the only way I can sign up  

52:08through that email like do I have to go back to my  inbox and dig out an email that I may have missed   or is it in my portal go no inbox email and it’s  linked so there’s a special link in your email  

52:20that attack is does just for you that attaches  your citizen unique identifier so that we can link  

52:28the data so we can link here seizure tracker to  your citizen data and who’s that email from just  

52:34so I can search it it is from it was in one of my  slides let me hold it should be research invitae  

52:42if you just search in detail in your inbox  it’s definitely from our support team

52:50okay yeah in vitae yeah you’re right here in VTA  research studies yep in Vita research studies  

53:00and then the title is um foreign invitation to  participate in in VTA citizens rare neurological  

53:08disorder study so right now I just want to  add something on this really quick I don’t   think I mentioned this to Virginia but um  so that you don’t have to track the 30 days  

53:17right to know like which day did I start  this which day should I end the reminder   emails will only come out daily for 30 days  so if you use those emails as reference to  

53:27pay submit submit submit and once you don’t  get an email anymore you finish the 30 days  

53:33um so just wanted to let everyone know so they  don’t have to mark it on their calendar just   follow the emails and it’ll help you complete all  30. and we’ll be I’ll be tracking this closely  

53:44um and we’ll be sending out the one-on-one  reminders uh we’re pretty good at chasing people  

53:52I told the Praxis team that they didn’t have  to worry that syngap was going to show up and   we’re going to have all those seizures  trackers filled out so we need a do it  

54:04awesome well if there’s no more thoughts  I think we I think we’ve made the point I  

54:09really am I just want to emphasize my point  which is deep thanks to Karen and Kelly and  

54:14Praxis for caring about our kids and to Ivy  and Virginia over at in Vitae for making  

54:20making this really hard work possible because  that’s what’s happening here we’re gonna be able   to compare medical history with eegs with parent  patient Diaries and that would take honestly if I  

54:31asked to researcher to do that they would send me  a proposal for three years and some stupid amount   of money it would have resulted in a paper in  five years if we’re lucky that maybe somebody  

54:39would read whereas this is going to result in data  that we will understand by the end of the year  

54:45none of us have time to waste because our  kids are getting bigger stronger and more   complicated yeah right so let’s get on with it  people we have work to do thank you very much  

54:54thank you Mike thanks for Jenny  thank you thank you everyone bye