Bionic Eye research and IRD gene therapy updates

Watch the webinar here

good afternoon everybody and welcome to the first retina Australia webinar for 2023 the latest in research from retina Australia and Grant recipients my name is Sally Turnbull and I’m the administrative officer for retina Australia and I’ll be the facilitator of this webinar today so first of all I’d like to introduce our CEO Julia Hall to say a few words of introduction thanks Julia thank you Sally and good afternoon and thank you all for attending our research webinar today as Sally mentioned for those who don’t know me my name is Julia Hall and I’m the CEO of retina Australia before we get started I’d like to begin by acknowledging the traditional custodians of the land on which we meet today I’d also like to pay my respects to Elders past and present we’re very excited to have associate professors Penelope Allen and Lauren ayton with us to provide updates on their inherited retinal disease related research thank you both for taking the time to present today I’ll now pass back on to Sally to introduce our guest speakers in more detail

thanks Julia so our first Speaker this afternoon is associate professor Penny Allen from the Center for Eye research here in Melbourne associate professor Allen graduated from the University of Melbourne in medicine and specialized in Ophthalmology she then sub-specialized in vitriore retinal surgery she is a research fellow at the Center for Eye research Australia with a clinical appointment at the Royal Victorian Eye and Ear hospital as head of the vitrioretinal surgical unit she was a principal investigator on the Australian research Council through its special research initiative in bionic vision science and technology Grant to bionic Vision Australia she is the co-recipient of an NH and MRC Excellence award associate professor Alan was key to the developing the surgical technique for the supracaroidal retinal prosthesis resulting in the first clinical trial of this device in three human patients for this she was shortlisted for an Australian Eureka prize for interdisciplinary research she has subsequently led a second trial of a fully implantable device with four patients she has presented over 60 conference posters and talks and has published more than 90 peer-reviewed Journal articles this afternoon penny is going to speak on improving real-world mobility and assessing long-term safety outcomes with a retinal prosthesis or bionic eye thank you very much penny thanks Sally for that um lovely introduction I’m just going to share my screen and uh it really is um a great honor uh to be able to speak to you all today um it’s wonderful to have the support of retina Australia and it’s really a great privilege to be able to talk to you about the work that we have done over the last few years but then also in particular talk about the work that has been supported by the funding from retina Australia most recently so introduced things um as Sally mentioned We’ve ran a prototype uh clinical study of our supracoroidal retinal prosthesis during 2012 and we recruited three patients for this trial all of whom had uh end stage retinal Dystrophy and bear light perception vision

and then in 2018 we recruited four more patients for our second generation trial once again all these patients had uh retinal Dystrophy and bare light perception vision and you can see uh on the model on the right here the externals that we uh used for that uh particular trial

so when we say we developed a bionic eye or retinal prosthesis what do we really mean well what we developed uh um and this was in conjunction with the engineers from The barnex Institute was a silicon array with Platinum electrodes that you can see here that was placed within the supracaroidal space and it had a lead to a percutaneous connector uh the reason that this initial device had a connector was so that we could vary the levels of stimulation um greatly because no device had been placed within the supracaroidal space previously and we wanted greater flexibility of stimulation but it did mean that this device was designed to be used within the lab

it was the results of that work however that led us to our second generation device with an increased number of electrodes and a wider field of view and to receive a stimulating units that were implanted beneath the skin so this is a fully implantable device which was designed to be used at home

so over the time period of these two trials We performed seven surgeries and we used the same ocular procedure for both devices in all seven surgeries the device was able to be positioned safely with no intraoperative complications and it was placed beneath the macula in all cases at the end of the surgery uh the impedances of the electrodes were measured and there was no loss of functionality and you can see an image here of one of our 44 Channel patients with the device inside you there’s a color photograph and also a red free photograph

so during um the follow-up of course we’ve been following the patients from the 24 Channel study for 10 years one of the 24 Channel patients did need to have his device removed due to an unrelated health issue and the 44 Channel patients have been followed for over four years

and that follow-up consists of clinical assessments color funders photographs and OCT used to assess the stability stability of the devices and also assess retinal health and we also assess the position and stability of the device within the eye by measuring the distance from the Leading Edge to the optic disc and comparing rotation and translation to Baseline and in the images here you can see the color fundus photograph of a device inside you with the characteristic features of retinitis Pigmentosa and then below an image of the oct that’s been used to measure the position of the device and one of the things that we we measure is retinal thickness we know that with time patients with retinal dystrophy have Progressive thinning of the retina but we wanted to be able to demonstrate that the devices did not alter the natural history of this disease and we can see the plots on the left of the retinal thickness from the participants with the 44 Channel device and there is just overall a slow thinning of the retina consistent with retinal dystrophy

and when we look at electrode to retina distance we were concerned that in the first trial that fibrosis developed around the device and so we’ve conducted measurements within the second generation trial also and demonstrated that certainly there is some fibrosis that does develop around the device but this is stable in the 44 Channel patients and the oct once again is used to measure the distance between the electrode and the retina to document the development of any fibrosis

foreign

monitor the functionality of the devices and it was very pleasing that during the 24 Channel trial uh all of the devices remained completely functional with no loss of electrodes during the two-year study and during the 44 Channel trial only four electrodes overall became open circuit that is non-uh functional we believe that the stability of the device in the supercaroidal space contributes to this low loss of functionality in the device

what about the uh follow-up of the patients and assessment of the functionality of the devices well we call this work psychophysics and it initially consists of testing the thresholds of every electrode in the lab and generating a map of those thresholds and also the phosphine that is the visual perception that the patients have from the stimulation we then uh use a number of tests within the lab to assess the functionality of the devices and we can see uh on the left one of our patients assessing um using the moving bar test where we have a moving bar on a computer screen in one of four directions we also use Square localization on a computer screen as well and then we move on to more uh useful testing really from the point of view of patient use of the device what we call O M orientation and Mobility work so identification of a door and you can see one of the patients above testing a high contrast door in our testing room and also our obstacle course we can see one of our other patients on the right participating in a tabletop task and that is uh locating an object be it a cup a placemat a bowl or Cutlery are in a position on the table and also attempting to identify that and we were able to show with our original uh Vision processing algorithm that is um we call a high contrast algorithm that we could show that the device on function was better than device off for tabletop search and door detection and you can see some video of one of our patients demonstrating door detection on the right

and this is uh once again uh our original high contrast Vision processing algorithm with one of our participants uh sorting washing and we’ve videoed the screen of the computer on the right here to demonstrate the phosphines that are generated uh by the patient using the device to assess the items of clothing uh on the table as background

and with this uh high contrast Vision processing algorithm then the accuracy of uh sorting washing is excellent and um other tasks such as obstacle course are also able to be able to be completed

and this is another one of our patients using the original Vision processing algorithm within a shopping mall and we’ve got the video on the left um who’s using this in addition to the cane we’re attempting to demonstrate the phosphines uh in the video on the right and you can see as he comes closer to an object then there is stimulation

and to move forward than moving in an area where there are no phosphines is an area that is free and able and clear

however our overall aim has been to improve the functionality of these devices and so to that aim we developed a new uh depth algorithm that would enable the patients to assess proximity of um obstacles in front of them which as they come closer to the obstacle generates a brighter phosphine and to that our aim we can see the new headset on the model on the right and this headset has two cameras to enable depth perception and a new vision processing unit with the ability to be able to swap between the algorithms

so here we are um assessing the two algorithms against each other and it is this work that our retina Australia funding was so vitally poor so we compared our original high contrast division processing algorithm with the depth algorithm and this is one of our participants um in the obstacle course in this setting in a clinical trial then we randomly run Trials of the obstacle course the obstacles are all randomly placed within the course and the patient doesn’t know which Vision processing algorithm they are using at a particular time and you can see um with this overhanging object here I have participant is able to identify that there is something hanging overhead

Edge move around that

and then it comes upon the mannequin and once again is able to identify that the American is in the obstacle course

um as an additional part of this assessment and comparing these two Vision processing algorithms than we conducted outdoor Street work and you can see here our patient was able to see the young mum with the stroller and pause before walking on and I’d like to emphasize that it is this outdoor Street work which is completely novel and has not been actually performed by any of the other bionic eye groups and these two um clinical trials of obstacle avoidance and streetscape work are vital for us to get regulatory approval and evidence of functionality of these devices for commercialization at a later date so what can I say about the results of our obstacle avoidance task well overall the depth algorithm performed better than the contrast algorithm for object detection for low contrast objects in particular the depth algorithm was better our original high contrast algorithm performed uh well for high contrast objects but the depth algorithm was better for mannequins overhanging boxes and large bins and it was the contrast algorithm that was better for ground-based boxes so that as an overall algorithm uh then the depth outperformed our original algorithm in the outdoor streetscape work we were able to demonstrate that the highest proportion of objects was detected by the device 70.3 as opposed to Kane 22.3 percent or body 3.8 and of course without the device then our patient our participants would be using cane or body correct identification was equivalent between the two algorithms and they were able to correctly identify the objects in a third of the time one of the problems that we have with our high contrast algorithm is that Shadows are often incorrectly identified as objects and the depth algorithm is very useful to address this mistake so overall our participants felt that the device added a degree of confidence to their uh navigation during the outdoor streetscape and obstacle course work

so what can we conclude after this recent work well our surgical procedure is safe and reproducible and we’re able to position the device beneath the macular reliably the device is a stable after an initial settling period and they remain functional and we believe that’s due to the stability of the devices within the supracaroidal space but we’re excited that our new vision processing algorithm can add functionality and Aid navigation and activities of daily living for the participants and our participants like to be able to use the different algorithms and swap between them during use

so once again I’d like to thank retina Australia for funding this recent work I’d like to acknowledge obviously our other funding that we have had over the the years to participate to contribute to this work our most um important acknowledgment goes to our patients however who without their um dedication and hard work uh we would not be able to progress this work none of this happens without a large uh team and um my team at the Center for Eye research Australia are a great support and we’ve had fantastic collaboration with the bionics Institute uh the University of Melbourne and the Royal Victorian irony Hospital we’ve also need to thank um Professor Nick Barnes from the Australian National University who is the developer of these Vision processing algorithms thank you for your interest

thank you so much for that penny that was fantastic so exciting to see these amazing developments so we’ll move on to our next speaker and we’ll do questions at the end our second speaker this afternoon is associate professor Lauren Eaton also from the Center for Eye research and the University of Melbourne associate professor Lauren Eaton is the head of the vision optimization unit and a principal research fellow at the Center for Eye research with Dr Tom Edwards Lauren co-leads The Venture register which is aiming to collect clinical and genetic information on people living with imperative retinal disease she’s an investigator on several industry sponsored clinical trials and also runs a number of investigator-initiated research studies this afternoon she will provide us with some updates on gene therapy for inherited retinal diseases thanks so much [Music] thanks so much Lauren great thank you Sally and um thank you to Penny as well for a fantastic starting talk as she always gives so again as Penny said it’s a real pleasure to be able to share some of the research that we’re doing at Sierra and at the University of Melbourne and I guess um what I really wanted to do is almost take a little bit of a step back from what penny was talking about and talk about how we are inviting people to be involved in our research so this is talking about the Venture registry which is our inherited retinal disease registry for people um to get involved more in this sort of research so that will be sort of the overview of my talk I’m going to talk about how we how we find people how you can get involved and also give you an update on some of the clinical studies we’re running as well as talking a little bit about some retina Australia funded work looking at people’s perspectives on these emerging treatments so I just have some disclosures so I am an investigator for a number of Trials and consultant for some companies as well so the Venture study team is really led by myself and Dr Tom Edwards who many of you on the call will will know so Tom is a vitrio retinal surgeon that works in pennies unit at the hospital and our team is really um I guess I’m spearheaded by by Dr Stacey Britton Jones and Mr Parker Trung uh sashini unfortunately just left us to go back to Perth recently but the idea with our registry is that we are trying to learn more about the inherited retinal diseases in general so we are bringing people in for these assessments which is looking at the clinical presentations of inherited retinal diseases so that’s measuring people’s Vision taking pictures of the eye and scans as well as asking questionnaires about how people feel that their inherited retinal diseases affect their life the other aspect of this registry very importantly is genetic testing and I’m sure it’s emotional to anyone on this webinar that genetic testing is one of the most important tools that we now have in ird management because we can identify people for these upcoming treatments from their genes once we have people on the registry it gives us a really powerful tool to then recruit for our clinical trials and as Sally mentioned we’re running at the moment seven clinical trials in this space with more you know on outdoor step as we speak and I’ll talk about these a bit more in detail later but really importantly what Venture also allows us to do is tie back into the pre-clinical work so this is the basic science in the lab where Tom and the team are coming up with new treatments and we work really closely with collaborators across different units within Sarah and the university and it might be things as simple as giving some input from a clinical point of view as to what could be important in a treatment all the way through to sometimes pegging samples from people who are involved in our research in the Venture registry and then using those samples in the lab to develop new treatments so it’s quite a nice sort of Circle of Life

now we’ve recently published on the first 150 people that are on the registry and we’re now up to almost 300 people which is fantastic and a huge thank you to everyone on the call who has registered already and what we’re finding so far is pretty similar to what we see overseas so the most common inherited retinal disease that we see is threatened my Pigmentosa we have a number of people with Usher syndrome and many of you will be aware that Usher syndrome is the leading cause of deafblindness part of the reason that we do have quite a high proportion of people with Usher on our database is that we do run clinical trials in this space and so we’ll talk some more about that later but overall we get pretty similar breakdowns of different subtypes of irds that you see in the US and in Europe and really importantly for us this data is actually very powerful for us to then talk to Industry partners and companies that are developing treatments and say okay these are the really common inherited retinal diseases that we see and this is where you need to Target your r d so again another reason to get involved if you’re interested another thing that I often get asked is you know is my vision too bad to get involved in this registry and the answer is no so as Penny just mentioned Sarah and Penny herself are leading trials into things like the biotic eye and there’s also new treatments coming out that may help people with within stage vision loss and the other aspect of our research project is the program is really looking at low vision AIDS more generally so mobility and electronic travel AIDS and things like that so we really want to hear from everyone and we do have everyone on our registry from early vision loss all the way through to what we call ultra low vision

and this is really important because there are treatments being developed for the different stages of inherited retinal disease so as we’d all be aware these are degenerative conditions and so we can sometimes detect disease at a very early stage while the vision’s still normal and we have very limited clinical signs and obviously that can go through to to being quite a pronounced loss of vision and the really exciting thing in for all of us really is that there are therapies being developed for every stage of these conditions so Gene editing and Gene therapies are more targeted towards early disease and early vision loss through to things like stem cells optogenetics and vision prostheses which are more for the end stages of vision loss and so this obviously brings a lot of Hope to both the researchers and people living with these conditions and of course it all comes back to Lux Turner this is the poster child of our field at the moment and again I’m sure pretty much all of you will be aware of Lux Turner so this is a gene therapy a gene replacement treatment or a form of Labor congenital amarosis that’s caused by a gene called rp65 and so it’s a once-off treatment it’s an injection underneath the retina that gives the correct version of the Gene and so this has really been a game changer in our field so now we have a regulatory approved gene therapy which is being given to people in Australia now as we speak and this has opened up the door for for the next generation of treatments so what’s coming so this is from a recent review that our team did and what I’ve got up on the slide is a a graph showing how many times a particular Gene has been in the literature so whether that be scientific papers or conference presentations or listing on clinical trials websites and you wouldn’t be surprised that RP 65 the gene that has the treatment in luck Sterner is the most commonly researched Gene to date however there’s some really close candidates following closely behind and they are labor hereditary optic neuropathy choroid aremia x-linked retinitis Pigmentosa that’s caused by a gene called rpgr and Stargate disease and so these conditions have all got clinical trials underway at the moment and the other are genes that are listed and I can give people a um a verbal rundown of them if they would like later there’s a few but there are treatments underway being developed for for a whole range of different genes so what we’re really interested in is is finding people that can benefit from these treatments and so a really interesting thing is finding out what genes people have and so we recently did a survey of the literature where we looked at where the genetic diagnoses have been published and unfortunately there’s not a huge amount of data from Australia and so that’s something that we are working towards changing with places like the Australian inherited retinal disease register which is funded by retina Australia we’re trying to collect more and more National Data so that we can get a better understanding of what types of inherited retinal diseases we have in Australia but as expected places like the US and China do this this very well already and the change really has been over the last decade in terms of the accessibility of genetic testing so a decade ago it was very expensive it was very hard to get genetic testing and when you did do testing quite often you didn’t get a result and so back for example in 2011 only about a quarter of the people that had a genetic test actually got an answer thankfully that’s much better now so we’re up now around the 60 to 70 percent success rate when we do a genetic test and we also have a lot more Advanced Techniques now to try and learn more so we can do things like look at the entire genome not just one specific Gene at a time and this is really accelerating the field and helping us learn more about what types of genes cause what types of differences in vision and in the retina as well as obviously leading to new treatments as well so a really interesting and important part of all of this work is actually finding out from people that have these conditions what they actually want so if there are treatments available would they be interested what are the barriers those sorts of questions and so we were very fortunate to receive some funding from retina Australia recently for a grant that was headed by associate professor Heather Mack from Sarah and what we looked at is the attitudes to gene therapy for the eye so with a multi-disciplinary group we had had a whole range of people involved in developing the survey we came up with an online survey that we then distributed through places like retina Australia and we had almost 700 people replying and this is absolutely mind-blowing for this type of research so we think it’s about five percent of people that have an ird in Australia replied so one in 20 which is really amazing for this sort of sort of work so a huge thank you to those of you on the webinar who helped us out so interestingly what we found is that the mean age of the people that had an inherited retinal disease was 54 and we had people were applying between the ages of 18 and 93 and we also had 42 people who were caregivers reply to the survey which was great the really interesting finding for us in in terms of our quest for treatments was that most people would take up gene therapy if it was available for them so it was 92 percent of people that responded said that they would have gene therapy if they were able to but one of the challenges is that only 28 of the people that replied also said that they thought they had a good idea of what that entailed and so it’s a little bit challenging obviously to know whether or not you would have a treatment if you don’t really have good knowledge of that treatment itself so this is highlighting a need for us as clinicians and as researchers to improve our education in this space and so we’re going to continue to work with Retina Australia to make sure that we get the information that we are learning out to your members as quickly as possible there were some other really interesting findings from the survey that we did so we looked at whether people had had previous treatments before and we found that most people hadn’t done anything there were some people that had tried vitamin A or Herbal Remedies and acupuncture was the the third most common other treatment that had been trialled in terms of barriers and reasons that people wouldn’t go ahead and get gene therapy most people said that they didn’t really see any big issues but the ones that were highlighted were things like cost potential side effects and also the fact that these are still early stage treatments and so we cannot be sure that it’s going to work for an individual and that’s a really interesting and key thing for people to keep in mind while we’re really excited about these treatments that are emerging it is still early days and so you need to be aware of of the risk benefit analysis before you make a decision to be involved so this was absolutely like I said an outstanding response to this survey and it really was because of the community involvement so mainly to retina Australia to be honest both for the funding and also the Fantastic dissemination of this survey to your members so thank you and I also want to acknowledge Vision Australia blind citizens Australia Usher Kids Australia cure blindness Australia and the retinal disease registry in Perth so turning over now to to where we stand in terms of clinical trials so I have some information up on the screen if you can’t see this again I’m very happy to provide this in another format later but basically what it’s highlighting is that we have active clinical trials in labor congenital amaurosis starga so Usher syndrome and also in macular degeneration so we are a treatment site for like Sterner for patients that have the rp65 mutations and so that is actually a post-market treatment so it’s a commercially available treatment that you can’t have through the Ionia Hospital we’re running earlier clinical trials for oral medications for both star guards disease and that’s for adolescents so for 12 to 20 year olds and also for Usher syndrome as well and we do have a gene therapy trial underway for macular degeneration the take-home message that I’d really like to stress to everyone listening today is all of these clinical trials and all of our research comes back to the Venture registry so this is really the center point of our research program so we are looking for anyone who has an inherited retinal disease that thinks they might be interested in research whether that be Interventional like getting a drug trial or whether it be looking at things like low vision AIDS or just surveys about how your vision has been affected Venture is is our linchpin for all of that so please if you’re interested do contact my team and I’ll give you those details in a minute in terms of our specific investigator initiated research so this is research that we’re doing not with uh support from industry we’ve got a number of projects underway at the moment and again I would pretty much say that there’s something for everyone in in terms of whether you can get involved in research we’re particularly interested in people that would like to share their experiences of early vision loss and this has come from some discussions that CeCe Britain Jones our postdoc fellow had with some people that were involved in our research they’re saying that there’s some great resources available for when you need low vision AIDS and when you need to access uh you know ndis or those sorts of things but potentially in the earlier stages of vision loss we don’t have as many good supports available so this is a study that comes away with interviews so it’s done via Zoom or the phone where people can and really talk about their experiences of early vision loss and what we could do better as a community to help in that stage we are very interested in work as well in female carriers of x-linked irds and of corrodareemia and this is a really interesting space because historically females that had you know affected males in their family were told that they were at very low risk of losing vision because they only held one incorrect copy of the gene rather than the two that males do what we’re finding though is that some female carriers can be very affected and unfortunately some women can actually lose vision and so we’re trying to learn more about that so why is it that some women lose vision and some go through life with their Vision you know unaffected and so have a PhD Student Center who is working on this and so again if if this sounds like you or someone you know please do Reach Out and the final study that we’re actively recruiting for and and really looking for volunteers for is people who are legally blind from irds who be interested in trialling some new sensory substitution Mobility AIDS so these are things like audio cues and vibrating devices that can help you identify when there’s obstacles in the way and we’re going to run some assessments within a physiotherapy lab that’s got the biomarker sensors on the body kind of similar to um what they do for animated movies and things and so we will be using that very advanced technology to look at how we can help people with their Mobility the last thing I just wanted to finish up by saying before we go to questions is that we at Sierra and the University have just become a site for the foundation fighting blindness which is a really exciting advance for us so ffb are one of the largest philanthropic groups in the ird space around the world and there’s a large Global Consortium which has pretty much all of the leading institutes uh in in the US and Europe involved and we’ve now become the first Australian site for that as well and what that means for you guys is that we will now have access to earlier trials for new drug treatments but also Natural History studies so we will be able to be involved in collecting data from Australia to share with our colleagues overseas so that we can get bigger numbers in our studies get treatments through more quickly and and hopefully get some more options on the table so I’m going to finish up there um just really by saying again a huge thank you to retina Australia so our work is very much reliant on on the wonderful work that you do not only in financial support but probably more importantly for us in in connecting us with your community so I’ve got a photo of our lab team it’s we’re growing rapidly so every every time I do a meeting I feel like we add in another five people uh but that’s very exciting it’s because we’re we’re getting a whole lot more research happening so if you’re interested in anything that we’ve talked about today there is an email address it’s ird at

groups.unimel.edu dot a u and again we can send this email address out later and probably the other thing I’d emphasize is just to be aware that you know we all do work very closely at Sarah as well so you know if you did want to get in touch with someone like Penny um you know we we can all uh you know be contacted fairly so we we work well together so I’d like to finish off there and thank you for all listening today and pass back to Sally and hopefully we have some time for questions

great thank you so much Lauren um and Penny that was tremendous and it’s so exciting to hear about the uh all of these new um studies that are taking place and think about the possibility of people being involved and it’s it’s great isn’t it um so we do have time for some questions and so if you’d like to ask a question just type it into the Q a section or you can raise your hand um use the raise your hand option at the bottom of your screen and we will respond to those in the order that they appear when we say your name we’ll turn on your we will enable your microphone and you will need to unmute yourself so that you can ask your question and then after your question has been asked answer will turn off your microphone again in order to raise your hand you can just click on the bottom of the screen or you can use alt y on your keyboard if you’ve joined us on the phone you need to press star nine and to unmute your microphone you can select the unmute button on your screen or just press the space bar if you’ve joined on your phone you need to press star six

um alternatively you can type your question in the Q a section and I can see that there are a few there so somebody has said thank you both I had several questions relating to Star guard but you have answered them all Bravo to you both um so that’s good um Cameron Carter had a question why can’t the algorithms be combined and or is that something for the future what is the future like in relation to AI coming for on board as well I’m guessing that’s a question for Penny uh yes um unfortunately my um I think you’ve switched my video off Sally but I can certainly answer that um the algorithms um are used as Alternatives um in the vision Processing Unit but we have in fact developed uh further algorithms which we are currently testing as well um and as far as AI then um that is also um the next thing um that we have planned for these devices and I think the really exciting thing um about this is that we can you know alter the externals that is the um the glasses alter the cameras we can alter the vision Processing Unit but we don’t need to do anything about the implanted retinal prosthesis um by we can improve the functionality um without actually doing further surgery

that’s great absolutely I might just jump in as well Sally I just said because the artificial intelligence is is obviously a really important and interesting area for all of us the other aspects where I think it’s going to be really important for inherited retinal diseases is in terms of image analysis so one of the challenges in irds is that each single subtype of condition is very rare and so we’re actually now talking to places like moorfields Eye Hospital in the UK and some places in the US about whether we could combine images and this gets tricky because obviously everyone has to consent to this and we need to do it in a very secure way but there’s a potential that you could use artificial intelligence to look through a large number of images and identify new signs of the disease so we might be able to detect something that then becomes a diagnostic tool in the future so again very early days for that because we need to really work through how that works sharing that sort of data across sites but could be very huge it’s a bit like that thing where you know we don’t know what we don’t know it’s going to take a while to work out what opportunities there are absolutely absolutely and unfortunately when it comes to artificial intelligence the computers are actually a lot better at us than looking at images at that scale so in an individual image you know obviously we’re very good at seeing what’s what’s there but looking for patterns across thousands of people that’s where AI will come in fantastic so we’ve got another question from somebody can you please confirm if genetic testing is part of a process when joining a venture registry will a DNA sample be taken and sent the tested so that’s definitely one of our key things that we’re trying to to give access to everyone that we can uh it’s changed slightly so um there basically has been ups and downs in terms of how much genetic testing costs so some of the companies retain blueprints have had what they call sponsored genetic testing programs where we don’t have to pay for the the costs of the the sequencing ourselves so we went through a phase where absolutely everyone that joined the registry had genetic testing so we were sending out kits to people at their point the system has changed slightly now and so now what we’re doing is registering everyone that’s interested and then when people come in for their clinical visit we then do the genetic testing at the same time and this works a lot more effectively because when we send off your results to be looked at they actually also need to know the clinical data to be able to get a good diagnosis so we really need to be able to give them information about what the back of the eye looks like about what the vision is and things that we need to see you for so long very long answer there but basically there are two options with Venture if you can’t come in to see it we can put you on the registry still we can collect all the information that we can on the phone and that means you’re still then able to to be involved in Trials as they come up but our preference is if you can come in to see us in Melbourne then we can also do the Imaging and the genetic testing as well for you that’s great um does anybody else have any

more I’ve got quite a few actually um I was going to ask Penny just in relation to the issue that you said that your um your product is the first one that works outside and sort of in in the general just in a general sort of environment is that to do with the the bright light that’s outside or is it just because it’s a more complex environment um no it’s not quite that our device is the only one that works outside but we’ve specifically done streetscape testing of these different algorithms and that’s not something that um other bionic eye groups have done but interestingly of course at the moment um there are not uh options for a commercial bionic eye for a patient with retinal dystrophy um there is a Second Sight from the United States who did have a device are not producing their device anymore and not further implanting it uh pixium in France who had a device for patients with RP also and retina AG in Germany have all stopped producing their devices for patients with retinal Dystrophy and all of those devices were either epiretenal so implanted on the surface of the retina or sub-retinal and the reality is that the surgery was much more complicated it had a lot more risks associated with it and hence they’ve not continued to produce those devices We Believe actually that our the Simplicity of our surgical approach and the stability of the device makes it a really good you know long-term option for patients with RP and how long do you anticipate that it will last like it you know in the um when would it would it need to be replaced at all or is it so stable that you don’t really foresee that well the two patients that have had it in for 10 years the devices are very stable in the supracoreal space we did um we have done some preliminary lab work about removing the devices and replacing them and that’s certainly surgically feasible but obviously it’s not ideal the better option is to be up able to upgrade the software the vision processing algorithms and alter you know the hardware the vision processing units and that is a that is a much better option for patients and participants um we have a question here from someone who wants to know from you Penny are you able to comment on the work Elon Musk is doing regarding a brain implant provision um I can comment on uh well there have been a couple of groups um around the world that have done uh cortical implants small in number of of uh participants in Trials um and um I think that uh interestingly um you know this is an option for uh essentially people who’ve lost vision due to optic nerve disease or severe trauma so there’s always been an interest from the American Military for example um in these devices because of severe eye trauma during war um with a device that goes within the eye the optic nerve needs to be functional to transmit the visual impulses back to the cortex so it is an option for people that have severe diabetic retinopathy or a glaucoma and uh you know some of the early work on these cortical devices is promising great um Kylie has asked um are you taking DNA samples from the West Australian Data Bank to use as well or is it separate it’s a great question Kylie so we work really well and really closely with the guys in in um Perth and so the way that it works is if we have a clinical trial that’s coming up or a particular study that we’re looking for we can actually contact their registry and say these are the criteria this is what we’re looking for can you please send out an email so we don’t have access to any of the the data on the Perth registry so I can’t go through there and look at the machines themselves but I can um you know ask them to advertise the work that we’re doing the other thing that we do in science level in our Venture registry and we’re trying to learn more about their Gene and they say I’ve actually given a sample to Perth already once we have consent from you we can go back together

[Music] it’s very very strict privacy bro so I don’t get any of the data from Perth and less you can sense to that but we can that’s great um so somebody’s asked the same question is the genetic testing you perform different to the wa rich

as well so um there’s kind of we work very well you know um in parallel and at the entwined uh but it’s definitely different ways that we do things so we tend to do what’s called a panel first of all so there’s uh almost there’s over 300 different genes that we know can cause inherited retinal diseases so we’ll take a saliva sample or a blood sample and just test for those genes so that’s sort of the almost like the screening starting kind of of test what we then do from a research point of view if we can’t find the answer we can then offer our participants the opportunity to go to the clinics uh so for example the oculogenetics clinic at the Ionia hospital and they can do further testing so that’s when you get into the whole testing the whole Gene genome and trying to find out you know the more hard to solve ones so Perth probably Falls a little bit into that second category as well so they’re very good at really trying to nut out the challenging cases and working with some of the best labs around the world to try and solve challenging cases as well so yes we over we definitely overlapped to some degree but we definitely um have strengths that we combine as well that’s great um I had a question you mentioned when you were talking about the different trials that are on at the moment that the star guards disease trial is an oral therapy what is that how does that work so this is a little bit of a challenging one I’m actually not allowed to talk about that one too much I’m afraid but basically there are different oral medications underway at the moment and the idea is that they either are an antioxidant so one of the most common areas of research now is antioxidant therapies for the eye thus trying to protect the retina as a whole the other class of sort of drug treatments that are really a lot getting a lot of interest is trying to interact in the disease pathway so gene therapy is trying to correct the gene right at the start so you don’t get the the follow-through problems what you can also do is some of these oral medications for example which are trying to block the pathway so trying to protect the photoreceptors by getting in the way of the disease in in essence really um but yeah unfortunately I can’t go into too much detail because it’s still very early okay well that’s really an interesting thing I guess I’d only ever thought about you know the genetic sort of side of things but it’s great to hear and I I must say I think this is why I love this field so much because you know there’s bionic eyes there’s Gene therapies there’s oral medications we’re looking now at um intravitrial injections so these are injections that go in in similar to where you have Mobility generation so they’re not requiring surgery theater and things like that they can be done in an ophthalmologist’s room so those sort of treatments that are starting to come forward as well so there’s going to be more and more options coming down the track fantastic and Lauren I just want to say I think that one of the things that’s really interesting is that you know there are more of these Gene agnostic treatments being discussed because there are a number of these mutations that are really quite rare and um and also there’s you know 35 of people with inherited retinal disease that don’t have an unidentified genetic cause so um being able to develop um therapies that will help that are not dependent on the genotype are obviously really really important absolutely absolutely and it also ties back to what I was saying before about I guess the the ecosystem that we that we work in as researchers so the fact that there’s a lot of people still working on the basic mechanisms of disease so you know if you have an inherited retinal disease what’s actually happening and why are the cells dying and what sorts of chemicals are being released in your eye that’s causing that damage that actually opens the door to new treatments as well so none of it can flourish without the other aspects absolutely yeah um we’ve just got one more question quickly for the year do you know of any research results into how effective treatments are like microcurrent stimulation acupuncture herbs and hyperbaric oxygen therapy absolutely so I am very happy if that person wants to email me I can send some papers through um there’s definitely in particular acupuncture had a lot of interest uh probably about three four years ago um and including electrical acupuncture so rather than using needles it was actually direct electrical stimulation uh there’s also a lot of interest in electrical stimulations to the eye itself and whether or not that can help to protect the retinal cells so there is interest in in all of those sort of spaces and they’re really kind of working in parallel as well with some of the more drug based treatments fantastic all right well thank you very much I’m sure our time is now up so I want to say thank you very much to Penny and Lauren for making yourselves available and providing such interesting um presentations and I hope everybody’s found the session informative if you still have some questions please don’t hesitate to contact us and we will make contact with Lauren and Penny and um put you in touch with whoever can help now when you leave the webinar you’ll be redirected to a very short survey which we would really love it if you could fill in it just helps us to get feedback about today’s session and to think about what sessions you might like to have in the future um we’ve recorded this session and we’ll be sending out that recording in the next day or so and I just say thank you so much to um to you Sally and Julia on behalf of retina Australia um it’s a great opportunity for us um to be able to let you know um what the funding helps us do and you know research doesn’t get anywhere unfortunately without funding and we’re very grateful for the support from retina Australia and we’re really great for we’re really grateful for the interest that um everyone has demonstrated today in our work well it’s it’s tremendously important to all of our members and these are the the most popular sessions are to hear about where the work is being done and where their money is going when they make a donation and it’s tremendous that you’re available to to tell us about this important work so thank you very much thanks for watching goodbye everyone thank you

Retina Australia is delighted to welcome two of our recent research grant recipients, Associate Professor Penny Allen and Associate Professor Lauren Ayton, to present some of the results of their latest research.

Improving real-world mobility and assessing long-term safety outcomes with a retinal prosthesis (“Bionic Eye”)

Presenter: Associate Professor Penny Allen, Centre for Eye Research.

Participants with end-stage retinitis pigmentosa (inherited retinal disease) were implanted with a second-generation Australian bionic eye (retinal prosthesis) in 2018 as part of a clinical trial. The clinical trial finished in December 2020 and showed the device has an unsurpassed safety profile, with no serious adverse events and good stability over 3 years. Furthermore, laboratory-based measures showed that using an intensity-based method of visual processing (turning a stream of images from a camera into a series of flashing lights for the recipient to interpret) improves orientation and mobility, functional vision, and activities of daily living for recipients.

The team has now designed a promising cutting-edge visual processing strategy based on advanced depth processing algorithms with potential for further breakthrough visual improvements, especially in a real-world setting with varying levels of colour contrast.

This presentation will describe the use of these algorithms for the retinal prosthesis, and how they can improve the functionality of the devices.

Updates on Gene Therapy for Inherited Retinal Diseases

Presenter: Associate Professor Lauren Ayton, Centre for Eye Research, The University of Melbourne

Associate Professor Lauren Ayton (University of Melbourne/Centre for Eye Research Australia) will share updates from her team’s work into novel therapeutics for IRDs, including the Nacuity antioxidant study for Usher syndrome, and gene therapy trials and treatments. She will also discuss recent work, funded by Retina Australia, which investigated how people with an IRD (and carers) feel about these emerging gene therapies. Interestingly, the survey of almost 700 people found that whilst 91% of people would elect to have gene therapy if it were available to them, there are still significant gaps in knowledge that we, as researchers and clinicians, need to address.