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Research News

APRIL 2021

Promising results from USH2A gene therapy clinical trial

Biotechnology company, ProQR has announced promising results from their Phase 1/2 clinical trial for a new gene therapy for USH2A. This trial, which has a site in Montreal led by FBC-funded clinician-scientist Dr. Rob Koenekoop, is testing an RNA therapy, called QR-421, for Usher syndrome and non-syndromic retinitis pigmentosa caused by mutations in the USH2A gene. This therapy is specifically for individuals with mutations in a particular part of the USH2A gene (exon 13), which account for over 30% of USH2A cases.

QR-421 works in a different way than gene-replacement therapies (like Luxturna, the first gene therapy approved for an inherited retinal disease) where a new functional gene is put into cells to replace a mutated and non-functional gene. Instead, QR-421 uses a technique called RNA editing to fix mutations, in way that can be compared to a spell-checker function on a computer. QR-421 is a non-permanent treatment, meaning that patients will have to receive multiple treatments to maintain any benefit.

The Phase 1/2 clinical trial had 14 participants who each received one injection of the treatment. The trial showed that the treatment was safe and all participants showed a benefit, losing less vision in their treated eye than in their untreated eye. Based on these positive results, ProQR is winding down this early trial and hopes to launch larger Phase 2/3 clinical trials to gather more data about the effectiveness of this treatment in the near future.

Moving a new treatment for diabetic macular edema and age-related macular degeneration from the lab to clinical trials

A new potential treatment for diabetic macular edema and age-related macular degeneration has been discovered by Canadian scientist Dr. Przemyslaw (Mike) Sapieha (Université de Montréal).

Many eye diseases, including diabetic retinopathy and wet age-related macular degeneration are caused by uncontrolled blood vessel growth behind the retina which if untreated can lead to bleeding and loss of sight. The primary treatment for these diseases is anti-VEGF injections which stop the growth of blood vessels. One of the problems with this type of treatment is that all blood vessel growth is stopped; both abnormal blood vessels and sometimes healthy blood vessels which are needed to keep the eye healthy and protect vision.

In this new study published in the prestigious journal Cell Metabolism, Dr. Sapieha’s team identified a way to distinguish between healthy and diseased blood vessels. They identified a molecule, BCL-xL, that is higher in abnormal blood vessels compared to healthy vessels. Dr. Sapieha then teamed up with a company, UNITY Biotechnology, who have developed drugs that block BCL-xL function. One of these drugs slowed the growth of abnormal vessels in a mouse model of retinal degeneration while allowing healthy blood vessels to survive.

This class of drugs is now being tested in a Phase I clinical trial to see if it is safe in individuals with diabetic macular edema or wet age-related macular degeneration. This is an exciting example of how innovative vision research can lead to new treatments.

March 2021

New uses for old drugs: how cholesterol, diabetes, and HIV drugs may offer new ways to treat retinal degeneration and AMD

Cholesterol lowering statin drug may promote neuron regeneration

FBC funded researcher Dr. Philippe Monnier has published a study in the journal Neurobiology of Disease that shows that cholesterol inhibition increases neuron regeneration and survival. The team used two approaches; the drug lovastatin and a genetic editing approach to lower cholesterol levels in an animal model of optic nerve damage. The optic nerve is made up of many cells that send signals from the light sensing photoreceptors to the brain. In these experiments, cholesterol lowering treatments increased optic nerve regrowth after injury. Researchers also saw that lowering cholesterol in the eye increased survival of both optic nerve cells and photoreceptor cells. Interestingly, previous studies have not shown such strong effects of cholesterol inhibition on neuron regeneration. More experiments will be important to understand what conditions promoted this effect in this study.

Unfortunately, this doesn’t mean that individuals with retinal degeneration should start taking statins! One important thing to note is that the drug treatment was given by intravitreal injections to the eye, meaning that a very concentrated dose of lovastatin was being given to a small region of the eye. There is no data to suggest that individuals who take cholesterol-lowering drugs have better vision or less retinal degeneration. However, this does suggest that there might be a new use for a currently existing and tested drug, and future work from Dr. Monnier’s team will explore this possibility.

HIV and diabetes drugs may lower the risk of developing AMD

Two research groups have used data from American health insurance claims to see if individuals on specific drugs have a lower risk of developing age-related macular degeneration (AMD).

In the first study, researchers studied claims from over 600,000 individuals, half of whom had a diagnosis of AMD. The study published in JAMA Ophthalmology found that individuals who had previously taken metformin, used as a treatment for type 2 diabetes and polycystic ovary syndrome, had a reduced chance of developing AMD. Interestingly, the effect was dose-dependent, and individuals on lower doses of metformin had the greatest benefit.

In the second study published in the journal Proceedings of the National Academy of Sciences, researchers found that build-up of a certain type of DNA (called Alu DNA) could kill retinal pigment epithelial cells in the retina, potentially contributing to macular degeneration. Based on this finding, they searched through claims from millions of patients to see if any drugs that block Alu DNA build up were associated with reduced vision loss. Indeed, they found that individuals who had taken a type of HIV drug known as nucleoside reverse transcriptase inhibitors (NRTIs) had less risk of developing dry AMD.

This data on its own isn’t enough to suggest that doctors should start prescribing these drugs, but they do provide interesting evidence that these drugs, or in the case of NRTIs, safer alternatives, could be considered for testing in new clinical trials to see if they help prevent AMD.


This month we have clinical trial updates for gene therapy treatments for achromatopsia and a new anti-VEGF treatment for age-related macular degeneration (AMD).


Achromatopsia is an inherited retinal disease, where individuals have partial or total loss of colour vision as well as other vision problems, including increased sensitivity to light (including daytime blindness when there’s bright light), nystagmus, and lower visual acuity. Achromatopsia is caused by mutations in one of at least five different genes. There are a number of clinical trials testing gene therapy approaches for individuals with mutations in the most commonly affected genes, CNGA3 and CNGB3, and we have an update on two of these trials.

AGTC has provided an update on Phase 1/2 trials they are sponsoring, which are testing the safety and best dosage of the CNGA3 and CNGB3 gene therapies. The data was collected 3-12 months after treatment. 7 out of 26 (27%) of patients who received the CNGB3 gene therapy, and 3 out of 18 patients (17%) who received the CNGA3 gene therapy had some improvements in visual sensitivity. In both trials, all the patients who showed vision improvements had received higher doses of the gene therapy. There were no serious side effects reported in either of the trials. The trials will continue to enroll more patients and follow them for up to 12 months after treatment. They are also enrolling younger patients (as young as 4 years old) with the hope that the gene therapy might be successful at early stages of disease progression. AGTC will continue to report the results on this early stage trial over 2021 and 2022.


Roche has released the results of a Phase 3 trial of a next-generation anti-VEGF treatment, faricimab, for wet age-related macular degeneration (wet AMD). Anti-VEGF treatments work by blocking the VEGF molecule which promotes uncontrolled blood vessel growth in diseases like diabetic macular edema (DME) and wet age-related macular degeneration (wet AMD).

Faricimab is different because in addition to blocking VEGF, it also blocks a molecule called angiopoetin-2 (Ang-2) which also promotes blood vessel growth. There is hope is that this new treatment might be more potent than traditional anti-VEGFs because it’s attacking the problem (blood vessel growth) in two different ways. In brief, this trial showed that faricimab was as effective as another anti-VEGF (aflibercept (Eylea®)) treatment in maintaining or improving vision for patients newly diagnosed with wet AMD. 45% of patients taking faricimab were able to wait 16 weeks in between injections. This suggests that some patients diagnosed with wet AMD may have an new treatment option that could reduce how frequently they need to get anti-VEGF injections. Importantly, there were no unexpected negative side effects. Based on the strength of this data, Roche will be submitting faricimab for approval starting with the FDA in the U.S.


In a surprising finding, scientists have shown that injecting a gene therapy for Leber’s Hereditary Optic Neuropathy (LHON) into one eye can improve the vision in a patient’s other eye.LHON is a genetic eye disease which leads to degeneration of the optic nerve, which transmits light signals to the brain. This can lead to sudden irreversible central vision loss.

In this Phase 3 LHON clinical trial, sponsored by GenSight Biologics and published in the journal Science Translational Medicine, scientists injected a gene therapy into one eye of an individual who was recently diagnosed (less than 12 months ago) with LHON. The eye that didn’t receive the gene therapy injection acted as a “control” to ensure that any vision changes or safety issues that occurred were caused by the treatment itself and not by something else. Interestingly (and unexpectedly) 78% of the 37 treated patients experienced improved vision not only in the treated eye but in both eyes.

Further research showed that the gene therapy was likely being transferred to the other eye, but importantly was not going to other parts of the body. These are exciting results and the researchers are completing a few more studies. The hope is that if these studies show that the gene therapy is consistently safe and effective, it could be a new treatment for LHON helping to preserve and even restore vision.


Starting the new year with some updates on ongoing clinical trials! The biotechnology company ProQR announced that they had completed enrollment for a Phase 2/3 clinical trial of a gene editing approach for Leber congenital amaurosis 10 (LCA10). LCA10 is the most common and one of the most severe forms of the inherited retinal disease caused by mutations in CEP290. Currently, there aren’t any treatments for individuals with LCA10. The trial, using an RNA therapy called sepofarsen, is a potential treatment for individuals who have a specific mutation (pCys998X) in the CEP290 gene. It is encouraging that despite slow downs caused by COVID-19, the trial has completed patient recruitment and we are looking forward to hearing results from this study, expected in 2022.

The second update is from Roche on the Phase 3 trial of a next-generation anti-VEGF treatment, faricimab, for diabetic macular edema (DME). Anti-VEGF treatments work by blocking the VEGF molecule which promotes uncontrolled blood vessel growth in diseases like DME and wet age-related macular degeneration (wet AMD). Faricimab works a little bit differently, because in addition to blocking VEGF it also blocks a molecule called angiopoetin-2 (Ang-2). Ang-2 can also promote blood vessel growth and the hope is that this new treatment might be more effective than traditional anti-VEGFs because it’s trying to attack the problem (blood vessel growth) in two different ways.

Early results from the trial show that faricimab appears to be safe. In addition, more than half the patients treated were able to extend time between injections to 16 weeks which hopefully means less appointments and less injections. In addition to this trial, faricimab is also being tested in clinical trials for the treatment of wet AMD.




Injections of anti-VEGF are the main treatment for wet age related macular degeneration (wet AMD). They help prevent blood vessel growth, fluid leaking into the eye, and play an important role in reducing or preventing vision loss. Anti-VEGF treatments are a type of medicine called biologics. This means the medicine is made at least in part in a biological source, such as in a cell. This is different to other drugs which are manufactured chemically.
Recently, as patents on anti-VEGF medicines are expiring, biosimilars which can be described as generic versions of a biologic, are starting to be developed.

Similar to generic drugs, biosimilars are usually less expensive than the brand name biologic and they are only available once a patent on a brand name treatment has expired. However, while the active ingredient in a generic drug is identical to the brand name drug, a biosimilar is very similar, but not exactly the same, as the brand name biologic. Because a biosimilar isn’t identical, additional research and clinical trials are important to make sure that the biosimilar is as safe and effective as the original biologic treatment.

A new study in the journal JAMA Ophthalmology has shown that SB11, a biosimilar of the anti-VEGF treatment ranibizumab (Lucentis®), has similar effectiveness and safety as ranibizumab.

This study was a phase III trial that took place in 9 countries and involved 705 patients with wet AMD who had never received anti-VEGF treatments before. The patients were randomly divided into two groups with one group receiving ranibizumab and the other group getting the ranibizumab biosimilar SB11. After 6 months patients in both groups had similar improvements in their vision and importantly, the biosimilar did not have any more or worse side effects than ranibizumab. While it will be important to see if the biosimilar continues to be as safe and effective as the original treatment after longer term follow up, this is a promising result.

You may hear more about biosimilars, not only for wet AMD but for other diseases in the next few years. Biosimilars hold the promise of being more cost-effective, which we can all agree is important. However, we also know that safety and effectiveness can’t be compromised and studies like this are crucial to ensure that. As both new brand name medicines and biosimilars for wet AMD become available, we encourage you to discuss this with your eye care provider so that you know more about the treatment you are taking, as well as other available options.


Scientists from the University of Cambridge have used gene therapy to regenerate damaged optic nerves in the eyes of mice, offering hope that this information could help in the development of new treatments for glaucoma.

The optic nerve carries light signals from the eye to the brain where images are formed. In diseases like glaucoma where the optic nerve is damaged, light signals can’t be passed on, leading to vision loss. The optic nerve isn’t normally able to heal once it is damaged, however research in the last few years has shown that it may be possible to stimulate nerves to regenerate.

In this study published in the journal Nature Communications, scientists used a gene therapy approach to get nerve cells to make higher amounts of a protein called Protrudin. What they saw was that after optic nerve damage, nerve cells that were making more Protrudin were able to regrow the nerve, while cells without gene therapy didn’t regenerate.

While this research is still a long way from being a treatment, it is one more step in the long search for a way to regenerate nerve cells for diseases like glaucoma or for spinal cord injuries.


A study published in the journal Gene Therapy shows that a new light-sensing protein called MCO1 can restore some vision in blind mice using gene therapy.

MCO1 is a type of protein called an opsin that can detect light and pass on light signals. Opsins are normally found in light sensing photoreceptor cells which are lost in diseases such as retinitis pigmentosa and age related macular degeneration. Scientists are testing if opsins can be put into other surviving retinal cells to turn them into light sensors that replace damaged photoreceptors. This approach is called optogenetics and it could open the door to treatments that restore sight for individuals who have advanced retinal degeneration and don’t have many photoreceptors left.

In this study, a new more sensitive opsin, MCO1, was put in bipolar cells (a type of retinal cell) in the retinas of mice that couldn’t sense light, using gene therapy. The scientists found that mice who received the gene therapy regained some visual function and could navigate a maze faster and sense motion. This study was completed by the company, Nanoscope Technologies LLC. They are planning to start early phase clinical trials in humans later this year to test the safety of this potential treatment.



CRISPR (also known as CRISPR-Cas9) is a gene editing technique that allows scientists to cut DNA very precisely. It’s like a pair of molecular scissors that can be used to cut mutations out, or add new pieces of DNA into a gene. The importance of this tool was highlighted last month when Dr. Emmanuelle Charpentier (Max Planck, Berlin) and Dr. Jennifer Doudna (University of California, Berkeley) were awarded the 2020 Nobel prize in Chemistry for this discovery.

CRISPR is actually a natural part of a bacteria’s immune system. It was discovered by Dr. Charpentier in 2011 and soon after, working with Dr. Doudna, showed that it could be used to cut any piece of DNA very precisely and at specific sites. It’s been less than 10 years since its discovery but CRISPR has already had a huge impact on biomedical science and is the basis of new treatments being developed and tested in clinical trials for many diseases including cancer and blinding eye diseases. For example, a CRISPR-based treatment is being tested in a clinical trial for Leber congenital amaurosis and there are other potential treatments in development for inherited retinal diseases and other eye diseases such as glaucoma as the study below explains.


Glaucoma is a chronic disease that occurs when increased pressure in the eye damages the optic nerve. The optic nerve sends light signals to the brain and when it is damaged it can lead to vision loss or even blindness. The first treatment option for open angle glaucoma, the most common kind of glaucoma, is usually pressure lowering eye drops. If this doesn’t work, surgery may be necessary. Researchers from the University of Bristol that are looking for a more long-term solution have turned to gene therapy.

Published in the journal Molecular Therapy the study used a CRISPR gene editing approach to block the function of a gene called Aquaporin 1, which transports fluid in the eye. By turning Aquaporin-1 off in the eyes of mice, researchers saw that eye pressure dropped and that the optic nerve had less damage compared to untreated mice. Follow up experiments are needed to understand if this treatment is safe and has long term effectiveness before it can be considered for a clinical trial. This study does show it may be possible to develop long term treatment options for glaucoma.


The death of neurons, such as retina cells, is responsible for many eye diseases, including inherited retinal diseases like retinitis pigmentosa, age related macular degeneration, and glaucoma. In humans, once a neuron or retina cell has died it can’t be replaced. However, this isn’t the case in all animals and a team of researchers in the United States, including FBC Scientific Advisory Board member Seth Blackshaw, has set out to understand how some animals regenerate their neurons.

The study, published in the prestigious journal Science, compared which genes were turned on after retina damage in animals that can regenerate their neurons (zebrafish) and in animals that can’t (mice). What they found was that after damage, reprogramming genes switch on in a type of neuron cell called a Müller glia cell. This turns Müller glia cells into a progenitor or stem cell that can make new neuron cells that help fix the damaged retina. In comparison, in mice, these reprogramming genes are blocked from switching on, meaning that Müller glia cells don’t become progenitor cells. When scientists partially removed this blockade, mice were able to make some new neuron cells.

This study shows that it may be possible to regenerate some neurons in the eye. Scientists will now try to identify how they can completely and accurately turn off the reprogramming blockade to promote regeneration. Excitingly, this research may also be useful to researchers studying other diseases caused by neuron cell death, including neurodegenerative diseases like Parkinson’s disease.



A new study by FBC-funded researcher Dr. Michel Cayouette (Institut de recherches cliniques de Montréal), has identified two molecules (Pou2f1 and Pou2f2) that drive stem cells to make cone photoreceptor cells. Cone photoreceptor cells are the light sensing cells responsible for detail and central vision and they are lost in eye diseases like age-related macular degeneration, and advanced inherited retinal diseases like retinitis pigmentosa.

Stem cells have the ability to make many new types of cells and are being considered as treatments for blinding eye diseases, replacing cells that have been lost or damaged. A large challenge is that while stem cells like retinal progenitor cells (RPCs) can make different retinal cells (i.e. photoreceptors, retinal ganglion cells, muller glial cells), it isn’t clear how RPCs decide which cells to make or if this process can be controlled to create the specific cells that are needed for treatment.

Published in the journal Development, Dr. Cayouette’s research sheds light on this process, showing that Pou2f1 and Pou2f2 are turned on when RPCs are making cone cells, and are turned off when RPCs aren’t making them. The study also shows that turning on Pou2f1 and 2 artificially drives RPCs to make more cone cells, and that RPCs don’t make as many cone cells if Pou2f1 and 2 are turned off too soon. Dr. Cayouette and his team are now studying if this information can be used in regenerative medicine. For instance, if Pou2f1 and 2 are turned on in a non-stem cell, like a retinal ganglion cell, will it start behaving like a cone photoreceptor? This exciting discovery is giving scientists the information and inspiration they need as they develop stem cell therapies.

Learn more about the research and the scientists behind it in this interview with Dr. Cayouette and his PhD student Awais Javed.


A news release from Apellis Pharmaceuticals announced the results of a clinical trial testing the drug pegcetacoplan as a treatment for geographic atrophy (GA), an advanced form of age-related macular degeneration (AMD). GA can lead to blindness and there are currently no approved treatments for it. This Phase 2 study conducted in the United States, Australia, and New Zealand was randomized, and participants received either intravitreal injections of pegcetacoplan or a placebo. The study showed a 39% reduction in GA disease progression and Apellis has recently announced completion of enrollment of a larger Phase 3 clinical trial of pegcetacoplan with early results expected in 2021.

Glaucoma, one of the leading causes of blindness in Canada, is caused by damage to the optic nerve, which sends light signals to the brain. While there is no cure for glaucoma, most patients can avoid blindness by using eye drops to lower the high eye pressure that is responsible for the damage. On top of the challenge of taking frequent eye drops, the medicine has a number of side effects including pain, headaches and blood pressure changes. A new clinical trial, launching soon will test if a treatment called selective laser trabeculoplasty (SLT) could be a better alternative. SLT is a low-energy laser procedure that would be performed once a year and could replace daily eye drops. The clinical trial, called “Clarifying the Optimal Application of SLT” or COAST will be conducted by West Virginia University and University of Pittsburgh, with plans to enroll over 600 patients.


Researchers at Texas A&M University have produced a new treatment from the spice turmeric. This treatment may reduce inflammation from uveitis – a common condition often occurring after infection, cancer or autoimmune diseases that can lead to pain and vision loss.

The uveitis centered study, led by Dr. Erin Scott and published in the journal Science Advances tested a new form of turmeric designed to increase absorption and found that it was safe and reduced uveitis. Drug delivery is a challenge with any oral medicine, because it has to pass through the intestines, get absorbed into the circulatory system before being delivered to the tissue in need. Drug delivery to the eye is even more challenging because of the blood-ocular barrier – a physical barrier that tightly controls what substances can enter the eye.

Dr. Scott and her colleagues designed a new formulation of curcumin (one of the components of turmeric) that included nanoparticles. These nanoparticles were able to interact with molecules on the blood-ocular barrier and allow the curcumin to pass through into the eye. Curcumin is very attractive as a potential drug because it has no known negative side effects unlike current treatments for uveitis. The next step for this treatment is to test it out in a clinical trial (in dogs!) and based on these results, Dr. Scott is hopeful that it could also be considered as a treatment for humans.


FBC-funded clinician-scientist Dr. Elise Héon has discovered a new genetic cause for non-syndromic inherited retinal diseases (IRDs). With advances in genetic sequencing, we now know of over 250 genes that cause IRDs. However, over 30% of patients still get a negative result after genetic testing which means that their mutation is not one of these known genes. Clearly there is still much more to learn and many more genes to identify. This is Dr. Héon’s specialty, deciphering the genetic causes of IRDs.

In this study, Dr. Héon and her international collaborators used in-depth genome sequencing and identified mutations in the DYNC2H1 gene in patients with non-syndromic IRD. The DYNC2H1 gene provides instructions to make a molecule called dynein-2, which acts like a motor, physically transporting cargo around the cell. This study by Dr. Héon’s team, published in the journal Genetics in Medicine, also showed that mutations in DYNC2H1 cause a large decrease in dynein-2’s motor function confirming that the mutations had a real impact on cell function. This study brings research one step closer to the goal of identifying and understanding all the genetic causes of IRDs, information that is crucial for accurate diagnosis and development of new treatments.



In a recent study published in Scientific Reports, Dr. Jacob Rullo (Queen’s University) recipient of FBC’s Clinicial Scientist Emerging Leader award, has shown that patients with age-related macular degeneration (AMD) have different microbiomes compared to individuals without AMD, providing a link between inflammation and AMD progression.

AMD is the leading cause of vision loss in Canadians over the age of 50. There are many factors that can lead to the development and progression of AMD, including age, genetics, and environmental factors. In addition, there is evidence that inflammation may also play a role. Other inflammatory diseases such as Crohn’s disease, arthritis, and coronary artery disease have been linked to changes in gut and oral bacteria (also called the microbiome). These changes can increase local inflammation which may trigger inflammation in other parts of the body. Based on these observations, Dr. Rullo decided to study if changes in the microbiome might also be driving AMD development.

Comparing oral and nasal samples from individuals who had just been diagnosed with AMD to those who didn’t have AMD, Dr. Rullo and his colleagues found that there were different types of bacteria in the two groups. Some of the bacteria that were higher in individuals with AMD have been previously found in individuals with coronary artery disease. This research is intriguing but needs to be repeated with more patients and importantly, more research needs to be done to figure out if a treatment could shift the bacteria back to “normal” and slow down AMD development or progression.

Research developments like the ones shared above would not be possible without your support. Donate today to help advance vision research. To learn more about other FBC funded researchers, visit our FBC Funded Research page.


Published in the prestigious journal Science, a study led by Dr. Przemyslaw (Mike) Sapieha (Hôpital Maisonneuve-Rosemont (CR-HMR)) has shed light on how disordered blood vessels can be cleared to make room for healthy vessels in diabetic retinopathy. This discovery could lead to the development of a treatment for this serious complication of diabetes.

Diabetic retinopathy is the leading cause of blindness among working-age adults and is caused by damage to the blood vessels at the back of the retina, the light sensing part of the eye, and growth of abnormal blood vessels that can leak fluid into the eye.

This study shows that in diabetic retinopathy, the body tries to put the brakes on the abnormal growth of blood vessels by encouraging the blood vessel cells to enter a non-growing state called senescence. Interestingly, using a mouse model, Dr. Sapieha’s team also found that the body may be able to use the immune system to clear these senescent blood vessels, creating room for new healthy blood vessels to grow. The researchers also discovered that similar immune reactions were also happening in the eyes of patients with diabetic retinopathy.

This suggests that the body might have the tools to slow down diabetic retinopathy. But we know that most individuals with advanced diabetic retinopathy require treatments to slow vision loss and that the abnormal blood vessels won’t clear up on their own. This leaves us with the intriguing possibility that if researchers can figure out a way to activate the body’s own defense mechanisms, this might be a new way to slow or stop the progression of diabetes related vision loss.




This month we received updates on three clinical trials!

The first two trials were gene therapies for X-Linked Retinitis Pigmentosa (XLRP), characterized by progressive vision loss in boys, beginning with night blindness and often resulting in total vision loss. XLRP is caused by mutations in the RPGR gene which leads to death of light sensing photoreceptor cells in the retina. Both of the clinical trials discussed below are testing if putting a functional copy of the RPGR gene into retinal cells using gene therapy can prevent retinal cell degeneration and preserve vision.

MeiraGTX and Janssen provided an update of their ongoing Phase1/2 clinical trial. In this study, 5 out of 7 patients had stable or improved vision up to 6 months after treatment. The main purposes of Phase 1/2 trials are to make sure the treatment is safe and to figure out the best dose. That’s why it was good to hear that the gene therapy didn’t have major negative side effects. Based on these promising (but early) results, this study will continue with the hope of starting a larger Phase 3 clinical trial soon.

AGTC recently released data from an ongoing Phase 1/2 clinical trial to test safety and dose. Based on this study and looking at high dose that will be used in the next phase of the study, 4 of 6 patients responded to the treatment 6 months after receiving gene therapy. The company is expanding the Phase 1/2 clinical trial with plans to launch a Phase 2/3 trial in 2021. Updated September, 2020.

Finally, we heard promising results from Roche about a clinical trial that is testing a small eye implant called a port delivery system (PDS). The PDS slowly releases an anti-VEGF (ranibizumab (Lucentis)) and may reduce the need for frequent injections for patients with wet AMD. In this Phase 3 trial, patients with wet AMD received either PDS filled with ranibizumab or regular ranibizumab injections. Patients who received PDS were able to go 6 months between medicine refills and had as good visual outcomes as patients who received monthly injections. PDS is also being tested for use in diabetic macular edema.

We know many of you are eagerly awaiting new treatments that are less invasive and less frequent and we look forward to telling you more about longer term results from these studies.


A new study published in the journal Nature Nanotechnology identifies a new potential way to restore vision in individuals with retinal degeneration, with a single injection of nanoparticles creating a working artificial retina and restoring vision in blind rodents.
Many forms of vision loss are caused by degeneration of light sensing cells in the retina, including inherited retinal diseases such as retinitis pigmentosa, age-related macular degeneration, and diabetic macular edema. While retinal protheses have been developed and tested, they often aren’t very sensitive, not producing clear images and requiring invasive surgery, wiring, and external devices like cameras.

Nanoparticles are extremely small particles that can be made of many different types of materials and are used in fields from manufacturing to fabric production and increasingly health and medicine. In this study a team of scientists from Italy, used nanoparticles to create a new kind of artificial retina. The team used nanoparticles attached to a type of semi-conductor material that can sense and pass on light signals. Nanoparticles were injected into the retinas of rats who had retinitis pigmentosa. The nanoparticles were able to “replace” damaged retinal cells by sensing and passing on light signals to other cells in the retina. Rats who received nanoparticle treatment demonstrated improved vision up to 8 months after the injections.

While there are still many steps before this can be tested in humans, this is an exciting example of innovative treatments that are in development and will hopefully be moving from the lab into the clinic in the coming years.


Research from the University of Maryland has identified for the first time that stem cells live near the optic nerve – information which may shed light on how glaucoma develops. The optic nerve transfers light signals from the retina to the brain and when damage to the optic nerve occurs, this causes vision loss in diseases such as glaucoma. Until now scientists didn’t think that the optic nerve could heal if it was damaged. This study, published in the journal Proceedings of the National Academy of Sciences (PNAS), shows that in both humans and animal models, a type of stem cells lives close to the optic nerve and may protect the optic nerve from damage. These stem cells are present at birth and seem to decrease as people age. This could shed light on why optic nerve damage caused by glaucoma increases with age.

This information also opens the door to new treatments for glaucoma. For example, the research team is now trying to identify if the stem cells are secreting specific “protective” molecules which could potentially be used as a treatment for glaucoma or other eye diseases where the optic nerve is damaged.



How the retina became a key model for brain research.

The BRAIN Initiative was launched by the National Institutes of Health (NIH), in the U.S to accelerate development of innovative technologies in order to treat neurological disorders such as Parkinson’s and Alzheimer’s disease, depression and autism. Over $1.3 billion (USD) has been awarded to researchers since 2014. Amazingly, about 40% of projects funded are vision related or involve vision health researchers. This is because when researchers want to learn about the brain they often start with the retina!

Just like the brain, the retina is made of neural tissue and is composed of different types of neurons (also called nerve cells). In addition, the retina and brain are attached via the optic nerve which transmits light signals to the brain to form images. The retina however is much more accessible and easier to study than the brain. While the neurons in the retina and brain aren’t exactly the same, studying how neurons in the retina process and transmit sensory information provides important information about how cells in the brain might function.

You can learn more about different types of experiments funded by the BRAIN initiative in an article published by the National Eye Institute (NEI), including work to identify different cell types in the brain and retina, online crowdsourcing games to map neural connections and development of visual prosthesis.

Last year, Fighting Blindness Canada (FBC) expanded our mandate to including all blinding eye diseases, knowing that advances in one disease drive innovation for vision research in general. It’s clear that this extends to other areas of research as well, including cancer, immunology and neurological or brain research. In fact many FBC funded researchers, including Dr. Phillippe Monnier and Dr. Elizabeth Simpson are also involved in research into brain function and disease in addition to their work on vision loss. It’s certainly inspiring to see how our vision researchers are not only helping to develop sight saving treatments but are helping scientists in other fields move forward!


New study suggests statins use may reduce risk of diabetic retinopathy.

A meta-analysis study, published in the European Journal of Ophthalmology last month showed that individuals who took statins were less likely to develop diabetic retinopathy. Statins are drugs that are commonly used to lower cholesterol levels. Previous studies have indicated that patients who are taking statins have reduced rates of diabetic retinopathy and are less likely to need treatment including laser treatment, anti-VEGF injections and vitrectomies than patients who aren’t taking statins. This new study analysed data from six different publications to see if the results were consistent among the different studies, patient populations, and countries. And indeed, with a combined patient population of 558,177, these results were confirmed. This is very interesting but doesn’t mean that people should just start taking statins! Like any drug, statins can cause side effects so it will be important to learn more about how statins are impacting diabetic retinopathy. For example, researchers will need to understand if statins or lowered cholesterol are directly reducing diabetic retinopathy or if patients who are on statins are more likely to be making healthy lifestyle choices or have certain favorable healthcare characteristics which may lead to better outcomes.


A new anti-VEGF drug expands the AMD treatment arsenal.

The discovery of anti-VEGF drugs to treat neovascular age-related macular degeneration (also called wet AMD) was a game-changer and anti-VEGF injections are now the first line therapy for the majority of patients diagnosed with wet AMD. Despite this success, some people do not respond to current treatments and the frequency of injections can put a large burden on patients and their families. Scientists and pharmaceutical companies are trying to solve these problems and there are new treatments in development in the lab and in clinical trials.

One of these, brolucizumab (Beovu®, Novartis) is an anti-VEGF injection that was recently recommended for funding by CADTH (the Canadian agency that makes recommendations about the efficacy and cost effectiveness of new drugs). In clinical trials, brolucizumab given every 12 weeks, was shown to be as effective as another anti-VEGF drug (aflibercept – Eylea®, Bayer) given every 8 weeks. Currently, CADTH is recommending that brolucizumab should only be used for patients who have not yet started anti-VEGF treatments. The next step will be for the provinces to decide if they will fund brolucizumab through the public health system.

Based on input from the community, FBC submitted a patient response to help regulators understand the experience of individuals living with wet AMD and some of the challenges they face with current treatment. Access the full CADTH recommendation. Access the FBC patient group submission.



A new study published in the journal BMJ Open Ophthalmology, shows that a 7-day treatment with a synthetic retinoid replacement (9-cis-retinyl acetate) can lead to improvements in vision which lasts up to 6 months. FBC funded researcher Dr. Robert Koenekoop (McGill University) participated in this phase 1b clinical trial which took place in Montreal and Dublin, Ireland. Patients in this trial had a rare dominant-acting mutation D477G in the RPE65 gene which leads to vision loss, usually starting in adulthood. Because of how the mutation affects the gene, this mutation cannot be treated with a gene therapy approach which can be an option for many other individuals with RPE65 mutations.

RPE65 plays an important role in producing the compounds that photoreceptors need to sense and transmit light signals. When RPE65 is mutated, these important compounds are depleted in photoreceptor cells, meaning that light signals aren’t generated, leading to vision loss. This study shows that oral retinoid therapy may help replace some of these critical compounds and could be a potential therapeutic option for individuals with this dominant acting mutation.

While this is an exciting study, it is an early phase clinical trial designed primarily to test the safety of the new therapy. Further and larger clinical trials will be important to confirm if the therapy can consistently improve vision in a safe and effective way. We look forward to hearing more in the years to come!

Access BMJ Open Ophthalmology Journal article to learn more.


Funded by FBC and published in the journal Opthalmic Genetics, Dr. Ian MacDonald (University of Alberta) has discovered a novel mutational event in the CHM gene leading to choroideremia. Choroideremia is an X-linked progressive inherited retinal disease that affects males. It is caused by a number of different mutations in a single gene, the CHM gene. There are currently no approved treatments for choroideremia, although a gene therapy is currently being tested in clinical trials.

As new treatments are being developed it is more important than ever for patients to have an accurate genetic diagnosis to find out if they are eligible for these gene-specific treatments. However, if the genetic mutation hasn’t been identified before, it may not be possible to get a genetic diagnosis, and in fact in some clinics up to 50% of patients are unable to get a genetic diagnosis. In this study, Dr. MacDonald and his team, using advanced genetic techniques, identified a previously unknown mutation event that causes choroideremia: the insertion of a “random” piece of DNA called a retrotransposon into the CHM gene, which stops the gene from working. This study is important to grow the panel of known gene mutations and increase the chance that an individual can get an accurate genetic diagnosis. Access article abstract.


This short article, from Dr. John Dowling (Harvard University) in the high impact journal Science, provides an interesting overview of different therapeutic approaches that are showing promise for inherited retinal diseases. Learn more about the promise and challenges of potential treatments such as stem cell therapy, gene therapy and retinal implant.


Two studies using artificial intelligence and patient reported outcomes are identifying ways to predict disease progression earlier. Learn more….

Age-related macular degeneration (AMD) is the leading cause of vision loss for Canadians over the age of 55. It occurs when the central portion of the retina, the light sensing tissue at the back of the eye, gets damaged. There are two types of AMD, dry AMD, which is more common and usually less severe and wet AMD which progresses from dry AMD and is the major cause of vision loss. It’s important to catch wet AMD as early as possible and to monitor progression closely so that it can be treated and slown down to prevent vision loss.

Two studies recently published are looking at the same question in very different ways: Can you predict when AMD will progress? The first study, published in the prestigious journal Nature Medicine, takes an artificial intelligence (AI) and deep learning approach. The UK-based team, a collaboration between scientists at the company DeepMind, University College London and Moorfields Eye Hospital, showed that a computer-based AI program was better than 5 out of 6 experts at predicting disease progression from OCT images. The second Australian study took a very different approach, investigating if there was a link between patient reported outcomes and AMD progression. The study found that patients who self-reported higher vision impairment were also at higher risk of developing wet AMD. Taken together these two studies are identifying new ways to detect AMD progression earlier and more accurately, with the aim of improving outcomes and reducing vision loss.



FBC Clinician Scientist Emerging Leader, Dr. Jacob Rullo from Queen’s University, has published a paper showing levels of vitamin D are higher in the eyes of patients with retinal disease, such as age-related macular degeneration and diabetic macular edema. Previous work looking at blood levels of vitamin D was inconclusive. This study shows that vitamin D is present in the eye and that it may play a role in disease progression.


Researchers, from the University of North Texas Health Science Center have published a technique for reprogramming skin cells into light-sensing rod photoreceptors. This new technique allows researchers to skip a step in the process, and may provide a faster way to produce photoreceptors for cell replacement and stem cell therapy. When these reprogramed cells were transplanted into the eyes of blind mice, researchers detected some light under specific experimental conditions. However, this is only the first step and future experiments are required to see if the reprogrammed cells can actually restore long-term sight.


Findings point to targeting epigenome as a potential therapeutic strategy
Have you heard of the epigenome? The epigenome is all the chemical modifications or “marks” on our DNA which control which genes turn on and off. The epigenome can change in certain diseases like cancer, and now researchers at the National Eye Institute (USA) have published a study showing that it can change in the photoreceptor cells of mice as they age. Photoreceptors need energy to function and researchers found that as mice age, there were epigenetic changes that affected how their cells could use energy – demonstrating a clear link between aging, how cells use energy, and age-related eye diseases like age related macular degeneration (AMD). It might also point to a new therapeutic option: finding ways to change the epigenome to reduce vision loss.

This page is updated monthly. Visit this page next month for more exciting updates in vision research.

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