49 – Intro to RARE-X’s SYNGAP1 Data Collection Program

Syngap families can join the registry here.

SYNGAP1 – Data Collection Program

SYNGAP1 patients, families, and communities are excited to participate in data collection to expand and improve medical research. By coming to this site, you can begin the first step in making your patient information available to researchers. By generating the most comprehensive SYNGAP1 Data Collection Program, we can accelerate research and the development of new drugs, devices, or other therapies. Only you hold the key to unlock future discoveries.

Why Should You Participate?

The surveys you will take in the SYNGAP1 Data Collection Program are critical to the drug and treatment development process. Our goal is to make the process as easy as possible for you. The SYNGAP1 Data Collection Program uses a collaborative technology platform powered by RARE-X. RARE-X is a nonprofit created to accelerate rare disease research, treatments, and cures by removing barriers for data collection and sharing. By participating, you are…

  • Informing researchers how a disease or condition changes over time
  • Enabling better data to use in clinical trials
  • Reducing the time it takes to study new medicines in clinical trials
  • Speeding up the time to get therapeutics to patients
  • Enabling the use of data as a placebo (instead of actual patients) in a clinical trial

How it Works:

  • No clinic visits required, and there is no cost to you
  • Patients and Caregivers retain full control over who has access to  patients’ health information
  • With your consent, clinicians (doctors), researchers, and drug development companies (biopharma) can access de-identified data to aid research
  • Enrolling in the SYNGAP1 Data Collection Program requires minimal time, and you can come back to the site at your convenience to update your information

Become a SYNGAP1 data sharer to help advance research and accelerate treatments. Please join us.


thanks for coming everybody to this webinar  with this webinar we’re going to kick off our   partnership with RARE-X which is an organization  you might have heard about i recently did  

0:14a panel on data sharing with the CEO of RARE-X  charlene and two other partners of SRF Devin from  

0:21citizen and Jake from Beacon Biosignal so if you  haven’t watched that syngap dot fund slash data  

0:26it’s a very good high level and now we’re going  to double click in this webinar on RARE-X which is  

0:31a very exciting organization that I will let the  Megan and Tom tell you about but it’s my privilege  

0:38today to introduce you to Tom Hume who’s the head  of marketing communications for rare ex and megan  

0:44o’boyle who is do you have a title Megan i mean  you’re just Megan o’boyle like you’re Shannon’s  

0:50mom and also patient engagement lead Shannon’s  mama patient engagement leader Shannon has phelan  

0:56mcdermott syndrome is that right yeah so so megan  o’boyle has been at this rare disease game longer  

1:02than any of us she is one of the greats if  there was a deck of cards of rare disease   leaders she would be one of the the royals and  and we’re really lucky to spend time with her so  

1:13this is a very exciting time to be kicking this  off i’ve been thinking about this for some time  

1:19and i’ll hand it over to megan and tom to tell  us about RARE-X great tom go ahead yeah sure  

1:25just quick introduction my name is Tom Hume I  head up marketing for RARE-X also no stranger to   rare disease at all my middle son has juvenile  dermatomyositis it’s in the autoimmune space  

1:38and we started when he was about four  years old we started the cure jm foundation  

1:43to help find research and cares for juvenile  dermatomyositis so very familiar with  

1:50a lot of your journeys and very happy to  be working with RARE-X and helping you out

1:57hello everybody and thank you for setting aside  some time i know you guys have lots going on in   your lives my name is megan o’boyle and i do have  a daughter named shannon who has failed mcdermott  

2:07syndrome a deletion on the 22nd chromosome like  so many syndromes Phelan mcdermott syndrome is  

2:14a genetic cause of autism epilepsy sensory issues  she’s non-speaking she doesn’t sleep well she has  

2:22GI issues and the symptoms go on unlike the  the group on this call i was not one to start  

2:29a foundation or even really get involved in  research for her first 10 years i was pretty   focused on getting through the day but when our  organization decided that it was imperative to  

2:40start collecting data i worked with some other  families to start a registry and that was in 2010.  

2:47we did a great job with what we knew and we  didn’t know what we didn’t know and my job  

2:53going forward today and working at RARE-X is  to share my learnings and mistakes and all the  

2:59things that we wish we’d known back when we did  our first data collection so with that i will  

3:06start sharing slides i just want  to congratulate your community   today it is incredible to me what you all have  accomplished in such a short period of time  

3:18our community was very strong and organized but  it took you know 20 years before data collection  

3:24became a priority and it took 10 years of lessons  to to get it to where it is now so you know kudos  

3:31to you guys for you know just the incredible work  and speed at which you all are moving and megan  

3:38real quick i think you pulled up you got pull-ups  and gaps sorry about that sorry about that guys  

3:47give me just one minute oh it’s exciting this is  one this is a feature not a bug right we’re doing  

3:52this alongside some other groups so there’ll be  some cross group data available excellent spin  

3:58thank you your boss spinning is part of the job  and i don’t think it’s been i think it’s true  

4:06let’s try it you know when i was doing the slides  there’s an incredible amount of collaboration   that you all have already with so many of these  groups and it it speaks to the fact that these are  

4:18all groups that are so forward thinking despite  how young your organizations and diseases are

4:27okay so just to get get started RARE-X is not the  important entity here your organization your  

4:35community SYNGAP1 is what’s important but RARE-X  is a non-profit that was created to remove the  

4:42barriers of data collection for researchers in  industry and remove the burdens of of collecting  

4:48data for organizations like yours you know there’s  so much that goes into knowing what to collect  

4:54where to put it how to govern it keep it safe  and frankly your organizations need to be  

5:01raising money and taking care of their community  and and doing other things for research so RARE-X  

5:07was created out of a great need we’re a platform  that collects data which we’ll talk about  

5:13we will be able to connect data which is very  exciting in your community especially because   you have so many great projects going on and most  importantly get the data out the door to those who  

5:24need it whether it’s researchers industry and  hopefully someday regulators like FDA and EMA  

5:31we do not own this data the participants do we do  not sell it not even to biotechs or pharmaceutical  

5:38companies and we don’t do any research or analysis  with it we’re just a conduit in case you’re  

5:44wondering you know what’s the big deal about data  collection and you know why does it seem you know  

5:50are we complicating it the fact is and and your  organization did a lot of due diligence before  

5:56making the decision to go with RARE-X in the  rare disease space data may exist but it may  

6:02be in a silo it may be with one researcher that  no longer has funding or maybe at one institution  

6:08and although that’s that’s important data it may  just not get into as many hands the other issue is  

6:14that the data has been collected but it wasn’t  collected in a structured or standardized way   and it’s not very useful or valuable to the  people that need it and we’ll talk a little  

6:24bit about that today or for so many young  diseases there is no data collection at all  

6:30so this busy slide from top to bottom is the  second class of early adopters to RARE-X and  

6:39you’ll see some conditions you may recognize and  like fox p1 or STXBP1 these are other neurological  

6:50disorders that have chosen RARE-X and your patient  organizations are up here at the top and you’ll go  

6:58through a community page to reach RARE-X and we’ll  show you that as well once you get into RARE-X  

7:04you will have the usual consents and and such but  then you’ll have surveys based on on symptoms that  

7:11you report and that’s going to be an iterative  experience we will be adding surveys over time  

7:19because rx is being built to serve the needs of  all 10 000 plus rare diseases so we will need to  

7:27make sure that we cover all of the systems of the  human body and at the bottom is what as i said as  

7:34important as the patients are the researchers  that are trying to find solutions and it’s very  

7:39exciting how RARE-X is getting the data out the  door rather than researchers who traditionally  

7:45have to go to each community and ask for data  RARE-X has one portal where researchers can go  

7:52in and provide their credentials and query data  across rx and that’s incredibly important in the  

8:01rare disease space it also allows researchers to  stumble across data of diseases that they may have  

8:07never heard of but actually may fit their  area of interest governance is a big heavy  

8:16weight that we did not think that any of the  organizations needed to have to carry so RARE-X  

8:23is taking care of the governance governance  is how data is collected how it’s stored  

8:29and how it goes out the door and with that is  everything from informed consents and data sharing  

8:36preferences to all of that security and privacy  that we all know is so important around our data  

8:43so as i said this was not a a decision taken  lightly as always your organization has done great  

8:52due diligence to decide how and where to collect  data you know one of the reasons that that we were  

9:02an optimal choice is that there’s no fee to your  organization for this so that allows them to use  

9:07their much hard-raised funds in other research  endeavors there’s also no fee to researchers or  

9:15industry which levels the playing field i  touched upon structured and standardized data  

9:22your organization won’t be bringing surveys  to us we will be providing surveys that  

9:27have been researched and proven to be the  best known survey or instrument for that  

9:34particular symptom again patient owned and  managed which i’ll explain in a few moments  

9:40we already talked about governance and again  this this streamlining of getting researchers  

9:45in to see the data and analyze it up in the cloud  without having to jump through hoops at several  

9:52different doorways is is really huge and all  of this is in hopes to speed drug development  

10:00i have a feeling i have a window into your lives  i and i understand that you are probably sleep  

10:05deprived and you’re lucky if you get a shower two  days in a row and that you really have very little  

10:11time for for yourself much less more surveys so we  want to make sure that you understand this is not  

10:19just a favor you’re doing for the research world  this is something that you will benefit from your  

10:26family your doctors possibly your iep you will  have access to summarized data so you will see  

10:35once we’ve collected enough data how your family  member may compare to others with the same  

10:40diagnosis or differ and you will also if you  choose to to want to be contacted for future  

10:47studies or clinical trials this will be a way that  those researchers that are doing queries on data  

10:53will identify participants that might be  the best participants for their studies  

11:00again more eyes on the data which  is what you want i mean you know we   we don’t want just a handful of researchers that  know about our diseases working on them we want  

11:09researchers from all over the world that are  interested in all sorts of different systems   looking at us the ability to to to connect with  your patient organizations in your space if you  

11:21want to you’ll have the opportunity to share your  name and email if you choose and also updating  

11:28your symptoms at any time this is true of any  online data collection but it’s not true of of  

11:36the the traditional clinical studies for instance  my daughter is in a natural history study at NIH  

11:43and it’s phenomenal and it’s it’s funded for five  years and once a year we walk in the door and   we answer assessments and we have labs done but  that’s one day and and the her mood her abilities  

11:55the sleep she got the night before the traffic  we sat in on the way to that appointment all   will be reflected in just the data for that  day that that’s what will be published on her  

12:07and two days later she may come down with it with  a a new symptom and it’ll be another year before i  

12:12can report that to the study so the ability to go  in anytime you want and update symptoms progress  

12:20or regression is really important that also means  that the date that researchers that are looking at  

12:26the data are seeing every time stamp every time  things have gotten better or worse and that’s  

12:33where you the word history natural history comes  from is that you see the progression of a disease  

12:38over time so you will get reminders from us that  if you haven’t been in in the last year then it’s  

12:45time to come back and i have a feeling you’ll  get reminders from your organization as well so I  

12:53hope this is motivation for you to try and carve  some time to get enrolled as soon as possible  

13:01what do you need to get  enrolled an email a password   you do not need a lot of medical records but  frankly you guys are better placed for having  

13:11access to medical records than most any group i  know because of your relationship with citizen   you do not need to have a detailed family history  and remember which side of your you know maternal  

13:23family had what symptoms  you don’t need a lot of time  

13:28the amount of time that all the surveys  will take will be dependent on how many   symptoms your family member may experience  but this doesn’t have to be done on sitting  

13:36i really want to highlight that that we  recommend google chrome and apple safari  

13:42and at this time we’re not recommending mobile  devices although you can do this on a smartphone  

13:48an ipad or a tablet in our testing we just  didn’t feel like it was it was optimal so  

13:56while we’re working on that we’d ask that you  it’s better to use a laptop or a computer so  

14:03this is just what your journey’s going to look  like like like anything else you’re going to  

14:08set up an account which involves you  know terms and consents and then you will  

14:15answer data sharing which i’ll go through and then   as they say you’re off to the races you’ll  start answering surveys and depending on  

14:23the answer to one question you may have other  additional surveys show up in your dashboard

14:30so this is the community page that Tom has built  for you all you’ll see up in the left hand corner  

14:36is SYNGAP1 and i’ll take you to this in a few  minutes this as you scroll down we’ll give you  

14:44more information about why this is important how  to do it then there’s some FAQ at the bottom this  

14:51page can actually be translated but once you hit  this get started button which is is how you enroll  

14:58in in the SYNGAP1 data collection program then it  will only be in english for now this is a global  

15:07data collection it will not remain in english only  Spanish and one other translation will be added  

15:15at the end of this year and as we confirm that  we are meeting the data regulations in other  

15:20countries we will continue to add translations  at this time anybody in the world can enroll  

15:28as long as they can read english once you hit  that get started button you are going to be at  

15:33like all of our other apps privacy policies  in terms of use you can review this but  

15:40you’re gonna have to roll down all the way to  the bottom and you’ll have two choices I agree  

15:46start my enrollment where i’ve already  have an account obviously for your group   it’s going to be the one on the left i agree and  i’m going to start my enrollment this is a request  

15:57access page we need some primary information  from you before you set up your account  

16:05and so it’s your name not your family members  email phone number date of birth read through  

16:13these carefully that some of these you can you can  click more than one in other words a participant  

16:19can be a patient as well as a caregiver or a  person who has lost a loved one to this disease

16:27so once you fill that out like with  all the other apps you now get an email   it the subject line will say account creation  notice and it will talk you know explain about  

16:38setting up a password and that will come from  that will come from a RARE-X email address

16:47i don’t have to walk you through this i’m sure  you all understand how you should set up and   change passwords but there is plenty of guidance  and we can also provide a quick start guide to you  

16:58and this is where you’re  going to get get logged in   we have another terms of use so matrix is the  technology that RARE-X is sitting on so they are  

17:11holding the data and providing the technology so  again you’ll have to review it and hit next there  

17:20and now you’re in the consent and i know you all  have seen tons of consent every time our kids go   into the hospital we have to consent to have  something done they’re generally 5 to 25 pages  

17:30written by lawyers and we generally flip to the  back page and sign them i highly encourage you to  

17:36feel great about what’s going on with your data  so we wanted to make this user friendly we’ve  

17:42put this consent in question and answer form and  we have short answers and long answers for those  

17:47who are more curious the lawyers amongst us you  can hit click on the long answers you’re going  

17:55to get to the the last page of the cons last  two pages of the consent and up here we need to

18:03know what your role is and again you can have  multiple roles and then in these two questions  

18:12i would highly recommend yes this says  that you want to continue to research   receive surveys and the second one says that  you want to hear if you qualify for a trial or  

18:22a study this is not a commitment that you have  to participate in it just means you’ll get an   email saying hey if you’re interested please  contact this researcher about this study so  

18:32again i checked yes the last page  is going to ask for your legal name  

18:39even though nobody’s ever called you william  and you’ve gone by billy your whole life   go ahead with the with your legal given name  this is going to be creating a code going forward

18:55so now you’ve set up yourself as a caregiver  and your name is up in the left-hand corner  

19:02and you’re going to fill out your demographics  i’m going to give you a heads up here   our programming team is diligently working to  solve this problem but sometimes our computers  

19:12outsmart us and if your browser has autofill when  you put in your last name it may change your first  

19:19name depending on what your autofill uses so you  just need to double check that that’s accurate and  

19:25the state field does not want your state spelled  out it would like a your state abbreviation  

19:34these are the regular demographic questions you  get and and we tried to make this as international  

19:40friendly as possible you know this this ethnicity  is actually from the world health organization  

19:46so we followed the best possible standards there  is an opportunity to say prefer not to answer  

19:54i want to point out we get these questions about  household income all the time and it always made  

20:00me feel a little nervous like someone was gonna  look at this and maybe hit me up for a donation  

20:09this information is for socioeconomic research  this is this is how they determine whether  

20:15some socioeconomic situation might be a  delay in diagnosis a delay in treatment  

20:21and possibly an increase in mortality you  do not have to answer these questions again  

20:26but i just want to let you know this data is  not being used by your organization or RARE-X  

20:33you’ll see here where it says rare disease  there’s there’s a drop down if you don’t see  

20:39your disease start to type it and it will pop up  on the left it says clinician when you hover over  

20:46this it will say you know do not fill this out  unless you have a clinician accessing your data  

20:51right now none of you have a clinician accessing  your data so you’re going to leave that blank  

20:56but that will be an exciting time where you  will be able to allow some of your medical  

21:02caregivers to have temporary or  long-term access to this data

21:08this is the exciting part how do you you own  this data you’re managing not your organization  

21:15not RARE-X you are so you can share your data  as broadly as you want or you can restrict who  

21:21sees your data and most importantly you can  change your mind and change your decisions  

21:27so the first screen asks you have  one choice either choose one or two  

21:34the system will not let you choose both and it  will not let you go forward without choosing one   the first says any researcher doing any kind  of research can see my de-identified data and  

21:45i just want to emphasize this no researchers  or pharmaceutical companies will ever see  

21:51identified data your own organizations will not  see identified data unless you get permission  

21:57just for your name and email and that’s it the  second answer here is i want to share my data with  

22:04anyone doing health medical or biomedical research  which for the most part is is who’s looking into  

22:10our data thus far most people have checked number  one but this is your decision you can check either

22:19the second option you can check one both or  neither i did not check either of these boxes  

22:25because i personally want to share my my child’s  data very broadly if you don’t want your data  

22:31shared with with biotechs or pharmaceutical  companies you would check this first box  

22:36saying research solely for non-commercial purposes  if you want only researchers whose own institution  

22:44has reviewed their research and it has the stamp  of their IRB their Institutional Review Board you  

22:50can check that box that would preclude researchers  that are doing hypothesis you know generation and  

23:00and just kind of looking at data from different  angles from being able to see the data

23:07the next few questions are really for us to  be able to let your organizations know what   you all are willing to share in the future or  what you have somewhere already so do you have  

23:18a sample somewhere if so do you know where it is  are you interested in providing biological samples

23:27this next question your  community is asked and answered   but we’re asking everybody are you interested in  having your medical records connected to RARE-X  

23:36and you know in other communities we we might go  to them and say hey 90 of your community wants  

23:42their medical records connected since you all are  way ahead of the world and have already started  

23:47a project with Ciitizen we already know that  you’re interested in having your medical records  

23:53connected and this last question and i’ll  give you a cheat sheet for this answer is  

24:00what other studies have you been in and the reason  we’re asking that is because we want your data to  

24:05go as many places as possible and we want your  data to be connected to as many previous places  

24:12like the connection with Ciitizen and so  for instance if a a lot of you had you  

24:21know or participated in study we may come to your  organization and say let’s go back to that source  

24:27that original study and see if we can connect  the data so not surprisingly you guys are you  

24:35know ahead of many groups with the number of  studies you’re doing and i highly suggest that   if you’ve not gone to the research part of your  website that you go some of you may be involved  

24:44in some or all of these and i believe silence  is on there should have been on there as well

24:54this is the question where it says do you  want to share your contact information   we’re changing that so it’s very clear this is  not your home address this is not your medical  

25:03answers this is just do you want to share your  name and email with other organizations in this  

25:11this disease area i’m guessing you’ve already  done that or because you know about this webinar  

25:17this other question is is a little long but  don’t skip it because it’s really important  

25:23essentially you’re saying i’m okay with having  my de-identified data as part of a summary  

25:29dashboard like that it would be part of  a statistic of symptoms in SYNGAP1 or it  

25:37may be part of a statistic in all of the diseases  that are part of x that have a certain symptom so

25:46again we’re talking about de-identified data so now you’ve decided how your data is going to  be shared now you need to add your family member  

25:59so you’re going to need to go up here and say add  patient and if you get through this and then you  

26:07leave and you come back a couple days later and  you can’t remember was i in am i answering the  

26:12questions for me or is i answering my questions  for my child you can always look underneath it   will say caregiver or patient if you have multiple  people in your family that have this condition  

26:22you can have multiple patients you just have to  add each time every participant that you enroll  

26:30needs a consent so if there’s a caregiver and  a child there’s going to be two consents and   the reason is right now the surveys are about the  person with the the condition but we are going to  

26:42have caregiver surveys quality of life and other  things so we can’t just consent for collecting  

26:49data on your family member we’re consenting on  collecting your contact data and your future data

27:00so again you hit new patient and then you’re  going to go through the fields that you went   through for yourself again watch for that auto  fill when i put in my last name it changed my  

27:12daughter’s name back to mine so i had to change  it back to my daughter’s name we hope that will   be fixed very soon if not already so this is  the dashboard and this is going to show you  

27:23what new surveys you have and right now all your  surveys are new and which ones you’ve completed  

27:28so if you come back in a couple months and you  can’t remember what you answered this will tell   you once you answer the health and development  survey based on the number of yeses you know yes  

27:41i have this symptom additional surveys will be  added to this dashboard if there’s a symptom that  

27:48we’re not currently asking about but six months  from now we have a great survey for that symptom  

27:53you will be notified to say log back in we  have a new survey that’s applicable to you

28:00so this is an example of the first survey  which is very very general questions  

28:07do you have brain issues do you have eye envision  issues do you have sleeping issues don’t be   disappointed that this doesn’t get into like super  detail that will come later every question is yes  

28:18no or unsure you have to answer all the questions  because incomplete data skipped questions  

28:25provide to researchers what’s called dirty data  so we require that all questions are answered

28:35this is just an example of the  first question which is has a   participant had issues with brain or  nervous system and then it gives examples  

28:44we all will say yes to that again very general  and it goes through all the systems of the body  

28:51so again this is the dashboard of  what’s completed you can view or edit

29:03and here’s down here based on your answers to  that first survey you now have level two surveys  

29:09so this participant said yes there were  behavior issues yes there were vision   issues and yes there were growth issues  so they will now have additional surveys  

29:17we have filled out how many minutes roughly  these surveys might take because you may only   have 15 minutes today so you can pick the ones  that you can complete if you don’t complete it  

29:28it’s okay it will say in progress  when you come back into the system

29:35this is an example of a level two so if you  said yes to eye issues then you would have  

29:41this survey in your dashboard and when you  go into it again you have a yes no or unsure  

29:48if you say no then you just go to the next  question if you say yes then it’s going to  

29:54ask you two more questions symptoms age the  symptoms appear and then the diagnosis was made  

30:02at the end of every survey  there is a free text area   this gives you the ability to write in what  we did not ask please don’t add your child’s  

30:11name we do not need any identifiers and if you  do we will have to go and manually remove it  

30:17because that again would be dirty data we don’t  want any anybody to accidentally be identified

30:25there is a quality of life survey and it is one  of the best which is why we chose it but as you  

30:31all may know for some of us there aren’t really  appropriate surveys that are applicable to our  

30:40family member for instance in the past seven days  I may you know the question may be was my child  

30:48worried and my child doesn’t speak so i don’t know  if she was worried so there is an answer that you  

30:54can choose that says unable to answer because  of my child’s condition or communication skills   RARE-X is working by collecting this data we  will then be able to say you know x percent of  

31:05people were unable to answer this survey that  means a better survey needs to be created and   that that will hopefully lead to the improvement  of assessments for our communities going forward

31:19okay so you guys have a lot of  research going on how is this different  

31:25and it’s different in several ways but it’s not to  replace or compete with any of your other projects  

31:33it is meant to be complementary this isn’t being  done at one specific institution and under one  

31:40funding grant this is a long-term broad-based data  collection that will be available to researchers  

31:47around the world it will allow these researchers  to look across diseases because everybody  

31:53answering questions on seizures are answering  the same question regardless of their diagnosis  

32:00this also allows us to return  aggregate data to you so you get to see   you know how your answer compared to you  know everybody else with this condition  

32:09and a lot of researchers are not allowed to  release data until a certain period of time or  

32:15until they have published and you know for me that  was always frustrating i spent an hour filling  

32:20out a survey and i don’t hear about anything  unless they’ve published it five years from now  

32:26these surveys are focused on drug development this  these we are not asking questions out of curiosity  

32:31or like you know some researchers are are really  curious about something that they see a trend in  

32:38but it may not be related to drug development we  are focusing specifically on what is needed by  

32:44industry researchers and eventually FDA and other  regulators to get drugs developed and approved  

32:52again this is not in place of what you’ve done  and this doesn’t check all your boxes in the  

32:58future this is is complementary again you’ve  got lots of great things going on already

33:08i’m going to stop sharing here and i don’t  know if the questions are in the chat or  

33:15if people want to raise their hand  i am going to share one more thing

33:25so Tom has created your community page which  we also call the front door and a link will be  

33:31provided sorry that’s oh my goodness i am just  i i put it i put it up no i know what’s going on  

33:39Charlene charlene paid Megan to do this just  just to just to rip me i this is this is  

33:46this is just Charlene having fun with me i have  to say i’m coming off two weeks of covid but i  

33:52this could have happened pre-confidence  actually yeah i got it yeah tom’s gonna  

33:57take it this is thank goodness for tom so  he’s gonna show you the community page and  

34:09again that can be translated so this is the your  community page just with some quick overview of  

34:16why somebody would even want to be coming to  this and doing it we cover a little bit of why   participate obviously these are the buttons to get  into it you’ll be doing all doing get started at a  

34:25later time you’ll have the link once you log into  the vcp but if you forget what that link was you  

34:34can always hit the login to come back in too and a  little explanation of how it all works easy as one  

34:42two three four and then this is where we have a  Q&A that just kind of toggles down so if if if you  

34:49have deeper questions hopefully we’ve covered it  in here too so yeah so that’s the community page

35:02so before i jump in cory or lauren any questions  you guys have or things you want to call out  

35:09i don’t i think you did a great job of  addressing all the concerns especially   i know there’s a lot of parents that  do have concerns with privacy issues  

35:18and they want to make sure they feel like they  are in total control of their child’s data and  

35:24i feel like you guys do a really good job  of addressing all the concerns and making   it very easy to to check the boxes on what they  do want to share what they don’t want to share  

35:33and have the ability to go in later and change  your mind is wonderful so great job on that and  

35:41we were very transparent we spent almost a year  on the consent with a privacy lawyer and you know  

35:50my concern with consent always are if they’re too  long then people just scroll to the bottom and   approve and then they’re no longer informed and  that’s fine with itunes but it’s not appropriate  

36:02for your medical information so we really went  to great strives to put in plain language where  

36:08is it going to be who’s paying for it what’s it  going to be used for and where can it be used  

36:13and one of the things that was novel about what  we’re doing is we don’t want to trap your data we  

36:19want this data to go in as many places as it can  that is appropriate that it’s needed in the future  

36:26we don’t know who’s going to be studying  this five years from now but you took the   time to give this data it should go in as many  places as possible again always de-identified so  

36:39you know i urge you if you have concerns  about privacy that there are specific   questions that are address that in the consent  we have a couple questions popping up in chat  

36:50one is this seems like such a logical and  overdue approach is there anyone else trying  

36:55to fill this void standardizing early data  collection as opposed to what citizens do it

37:05i mean i don’t i think we are  pretty unique again we are nonprofit  

37:12so we’re also organization agnostic the current  the traditional model is researchers collect data  

37:23and they sometimes they call it a registry and  they decide what questions they’re going to ask   and some use standardized and some don’t  when organizations like ours collect data  

37:34we always thought we’re rare so our questions need  to be specific to our condition and i was one of  

37:42you know several parents in 2010 that  went to all of our researchers and said  

37:47what questions should we ask our families  some got pulled from standard surveys  

37:53good or bad some were made up and they were  very phallic mcdermott syndrome specific  

37:59the problem with this was that they  didn’t necessarily yield good data  

38:06having a question and an answer is a  science and an art and people that are  

38:11called survey methodologists should be involved  in reviewing how those surveys are created and  

38:17you can have brilliant researchers that know  everything there is to know about your condition  

38:22but they’re not survey methodologists so  standardized questions have been vetted  

38:29have have been validated and they map two codes  that researchers are are familiar with yeah i just  

38:38want to jump in i want to make a high level point  which is Megan alluded to the fact that we’ve  

38:44been doing diligence on RARE-X for a while i have  been bugging RARE-X and asking them hard questions  

38:51for years i am not exaggerating for  years and you’re right stella this  

38:57does make sense and it is overdue but you have  to remember those of us in this little bubble   we’re in a tiny little we’re we’re together with  rare as many but historically we’re not united  

39:07right we’re all these little silos and we’re  easily ignored and failed by the existing systems   so this is long overdue this is late but it  does it does make sense and we do desperately  

39:18need it and i want to point out what make  you know just just tease on a few things   megan’s been working with a privacy lawyer for  a year on this right point out that i’ll say the  

39:26same thing about citizen one of the smartest  things about citizen is the very smart use of   consents to allow for flexibility so as not to  subjugate families to more data collection later  

39:36right there’s a technology platform your next  question is who is matrix matrix is a technology  

39:41vendor and look up justin jason cole quit he’s  been in the industry for a while i will point out  

39:47that that he is employed one there’s a sing  gap dad who works at matrix on this stuff we’ve  

39:53got our people everywhere but you know like you  know so if you want to do diligence call dennis  

39:59he can tell you about jason matrix is legit  and i’m the point i’m trying to make here   is the SynGAP Research Fund is not says  no to a lot of things there’s a lot of  

40:12ways people will come to us and get access to  our families and abuse your time for very little  

40:17return and we say come back when you have  a better idea but then there’s things like   citizen and RARE-X which makes sense and give us  access to stuff we wouldn’t have the time or the  

40:30money to build i’m not going to pay a privacy  lawyer for a year to build a platform i’m not   going to beg jason to give me a deal on some  boiled down rinky dink platform i’m not gonna  

40:40ask Corey and Lauren in their spare time to make  up more questionnaires why would i waste the time  

40:46when megan and tom and the entire paid salary  team at rare x has done it better so kudos to  

40:53RARE-X for building this and a reminder to the  community that if we bring you something we’ve  

40:58vetted it and i think that our our time and our  patience are so precious we should only deal  

41:04with people who are professional have thought  about it and are committed to doing it right  

41:11and i put citizen in that box  and i put RARE-X in that box   and i encourage and i encourage our community  to do citizen and collect your medical records  

41:22and to do this and to answer these  questionnaires and i remember   you know we’re doing look at all those other  genes at the top of this this isn’t something mike  

41:30said decided was a good idea it’s something the  whole board is we’ve debated this ad nauseam and  

41:36stxbp1 is doing it slc 6a1 is doing it fox p1 this  is there’s so many other rare groups who are here  

41:44and by the way there’s even more rare groups who  are on a waiting list so in spite of my obnoxious  

41:49pestering they let us in and we should be grateful  so i i just want to emphasize like this is  

41:56this is a great opportunity it does make sense  and I realize it’s one more thing to do and one  

42:02more questionnaire and more emails and i can  barely delete emails in my inbox fast enough  

42:07but hopefully it’s a tool that we will benefit  from sorry meg yes i i think that i appreciate all  

42:14of that and i also want to point out that going  back to my first one of my first slides we’re a   non-profit which gives us incredible flexibility  we can partner with citizen we can partner with  

42:25the broad institute that incredible research  portal that i keep bragging about it is a  

42:31federated data access and analysis portal this is  technology that was built to the broad which is a  

42:38non-profit through Harvard and MIT and it is  being used by huge international studies already  

42:45this isn’t something that we just built well you  know from scratch this is being used and it is  

42:52also you know safe secure and meets you know it’s  built to meet international data regulation which  

43:01is really hard to do nowadays so we don’t have a  partner we’re not just having one technology which  

43:10would you know might be matrix or one partner  like ciitizen we have the ability to partner  

43:16with all sorts of stakeholders that share our  mission of getting data high quality data out and  

43:27you know that that includes you know industry  partners if they share our mission as well  

43:35was there a couple comments  in chat just a reinforcement  

43:40of you know really wanting us to get to  spanish and we’re you know the goal is here and

43:49yeah is there any other questions so translation  has a couple of angles here one it’s not just a  

43:55matter of translating it to another language  and then back to english to make sure it’s   it’s right yes there’s that first we have to  make sure that the english version has worked  

44:05out all of its bugs and it is what it needs  to be which is why we always ask you please   provide feedback positive negative whatever  provide it to our email provide it to your  

44:14organization who will provide it to us but  but don’t sit on your hands if you don’t like   something let us know but the other thing is  for every translation we have to make sure we  

44:24meet the data regulations of the countries where  that language is spoken the other complication is  

44:32it can be accurately translated  but is it culturally appropriate   and you know we have to go through and work  with consultants and say does this question in  

44:42this language resonate with that community and  that’s not something that’s done automatically  

44:49so again we will have to take the time  and resources to get this done right

45:00okay and still there there is a lot of detail  about privacy and security in in both the matrix  

45:08document that popped up in the beginning  and and RARE-X and after the fact after  

45:14you’ve already enrolled you can always find  those at the bottom of the screen i believe

45:24okay great thank you guys it was our pleasure and i know  data’s not sexy and fun to hear about and like  

45:35i said first 10 years of my daughter’s life i  wasn’t really thinking about research i didn’t   think it was going to happen in her lifetime  i know now that with the help of organizations  

45:45like yours researchers moving incredibly  fast compared to where it was 15 years ago  

45:51and that when organizations like ours take  the lead on collecting high quality data  

45:57it puts us ahead of those conditions that  aren’t doing that and you know there’s ten  

46:03thousand rare diseases out there so we  have a lot of not to say competition but  

46:09but there’s a lot of other diseases in the make  again we are rare but we are not unique so those  

46:19standardized surveys that you’re answering may  lead to research not only for your condition  

46:27but for similar conditions that have the same  symptoms and you know that would be fantastic

46:37tom did i forget anything i don’t think  so any questions from participants

46:48well congratulations you guys this is super  exciting and I know you you your time is limited  

46:54but as soon as you can get in there get the get  the account stuff set up and get for the consent  

46:59and and try at least answer that first survey  with the general questions and if that’s all  

47:06you’ve got time for that’s great you’ll get some  reminders from us we’re not wanting to spam you  

47:14so if you don’t finish the consent you might  get an email saying don’t forget to come back   if you leave a survey unfinished you might get  it you’ll get an email they’re not going to  

47:23be rolling in every 24 hours and you know you  know that we don’t want you to unsubscribe so

47:34awesome thank you both this is i’m excited to  do this with you guys we’re gonna we’re gonna   get a lot of data in there we look forward to  returning the data to you all so you can see it  

47:43too it’ll be great all right thanks thanks  so much thanks megan thank you thank you