Summary of Research and Developments-2019

This is our 14th annual summary presented to the International Low Vision Support Group about leading research and developments during the past 12 months in the fields of blindness and low vision.

Most activity has been in the fields of anti-VEGF treatment and gene replacement therapy. We have also seen promising work with stem cell replacement therapy. All of this news will be covered here, as well as headlines about daily living, related disease treatments, nutrition, and technology. We will discuss the articles beginning with the most recently published in each category.

Sources and more detailed information about each topic may be found by searching the Living Well With Low Vision news archives by title and date at lowvision.preventblindness.org/news.

ANTI-VEGF THERAPY FOR WET AMD

A modicum of empirical evidence over the past few years has caused concern about an association between stroke and the anti-VEGF drugs used for treatment of wet age-related macular degeneration (AMD). But now a 5-year cohort study has found no consistent associations in the risk of stroke, myocardial infarction, or death among wet AMD patients receiving anti-VEGF injections compared with control groups with and without wet AMD.

This appears to be the first effort to scientifically pursue the evidence, and the findings may help to ease the concern of both patients and doctors. More such studies, however, should be initiated before any change in protocol is made.

Reference: Study Finds That Anti-VEGF Drug Treatments For Wet AMD Do Not Cause Strokes (February 2, 2019)

Currently approved anti-VEGF drugs require several monthly “loading dosages” at the beginning of the treatment regimen. But now, four extended-release drugs are under study. The first to be announced this past year was Abicipar. The biological drug Abicipar is effective at up to 12-week dosages. One caveat is that it tends to have a high incidence of intraocular inflammation. The researchers are further analyzing the results as their clinical trials continue for a second year.

Reference: Abicipar for Wet AMD May Extend Time Between Treatments (July 20, 2018)

The second drug to make headlines was faricimab (RG7716). At 52 weeks, faricimab patients who were dosed either every 16 weeks or every 12 weeks demonstrated sustained vision outcomes comparable to a current drug being dosed every four weeks.

Reference: Genentech’s Faricimab for Wet AMD May Greatly Extend Time Between Injections (October 28, 2018)

Another new anti-VEGF drug called KSI-301 achieved significant improvement in vision after three months.

Reference: KSI-301 Joins List of Proposed Longer Lasting Anti-VEGF Drugs (December 22, 2018)

A third sustained-delivery drug, GB-102, has provided evidence that it can continuously and safely inhibit activity of VEGF for several months. A Phase 2b study of GB-102, is expected to begin enrollment in 2019.

Reference: Yet Another Sustained-Delivery Anti-VEGF Drug Ready For Phase 2 (January 23, 2019)

In addition to sustained-delivery drugs, patients are looking forward to the possibility of extended time between treatments however it is made available. A small survey conducted by MD Support in August 2018 showed that patients dislike frequent injections as much as they dislike frequent clinical visits.

To that end, Regeneron Pharmaceuticals has been approved to extend the dosage regimen of its anti-VEGF drug, EYLEA, to at least every 12 weeks plus additional doses as needed. Whether or not to extend treatment to 12-week intervals will be determined by the doctor based upon individual needs and outcomes.

Reference: 12 Weeks Between Injections: Good News for Wet AMD patients (August 18, 2018)

Probably the most unique development of the past 12 months is the development of a device that eliminates frequent injections altogether. Genentech has announced positive, top line results from a Phase 2 study of its Port Delivery System (PDS) with its anti-VEGF drug, Lucentis. The PDS, slightly longer than a grain of rice, is implanted surgically, and is refilled approximately every 6 months through a port accessible to the exterior of the eyeball. The results from this study will help determine the most appropriate dose and fixed treatment interval to study in the ongoing Phase III program.

Reference: New Port Delivery System Unveiled for Wet AMD Treatment (July 26, 2018)

Injections into the eye carry a certain risk, and they are uncomfortable for the patient. To alleviate those problems, other methods of drug delivery into the eye are being tested. For example, scientists are one step closer to developing an eye drop that could revolutionize treatment for wet AMD and other neovascular diseases.

Patents are now owned by teams of U.K. and U.S. researchers who are working to develop a novel range of therapies for wet AMD and other eye diseases. Their study has demonstrated that physician-administered eye drops can deliver a therapeutically effective amount of the drugs to the retina of the mammalian eye, and they are expediting proof of concept studies to confirm the validity of eye drops as a therapeutic approach. They are hoping to begin human clinical trials this year.

Reference: Another Step Closer to Eye Drops for Wet AMD (November 28, 2018)

Research announced in November showed that non-anemic patients with wet AMD who take oral iron supplements may be at risk of aggravating their condition. Researchers have found that use of oral iron supplements was significantly associated with retinal/subretinal hemorrhage at baseline in patients with wAMD. The amount of risk was dependent upon the dosage strength, particularly among those with high blood pressure (hypertension).

The significant association was strongest among those taking an iron dose of 18mg to 36mg. The association also remained significant among hypertensive participants without anemia.

The researchers believe that, in AMD patients, the iron supplements may interact with genetics to damage blood vessel cells in the retina. Further investigations are needed to delve further into this possibility. Meanwhile, patients taking iron supplements would be wise to discuss these findings with their eye care specialists.

Reference: Iron Supplementation Associated With Wet AMD (November 8, 2018)

An oral medication for treatment of wet AMD called AKST4290, has been shown in trials to be safe, effective, and “extremely promising”.

83% of subjects’ eyes improved acuity of a mean 7+ letters, and 21% gained 15 or more letters over a period of six weeks. The substance inhibits the CCR3 protein that plays a part in blood vessel growth (neovascularization) leading to wet AMD.

This report follows earlier news about another oral medication for wet AMD, X-82, which is currently in Phase 2 trials sponsored by Tyrogenex, Inc. X-82 is different than AKST4290 in that it is intended for use in combination with anti-VEGF injections. The hope is that the combination therapy will reduce the number of injections required for stabilizing the retina.

A safe and effective oral drug that reduces or eliminates the need for eye injections promises to be an attractive, less burdensome, option for patients and doctors alike.

Reference: Oral Treatment for wet AMD Shows Promise (March 27, 2019)

GENE THERAPY

Researchers at the University of Oxford have carried out the world’s first gene therapy operation to tackle the root cause of AMD.

An 80-year-old woman with AMD is the first of ten people to receive the treatment. It is too early to know if the patient’s sight loss has been halted, but her vision and all that of all other subjects will be closely monitored. This first stage of the trial is primarily designed to check the safety of the procedure.

The operation corrects a defect in the CF-1 gene that causes AMD. Ideally, if successful, the therapy would need to be performed but once, as the effects are thought to be long-lasting.

It is important to emphasize that this study is a very early-stage intervention that will not restore sight, but it is expected to prevent further deterioration. Additionally, the defective CF-1 gene occurs in only about five percent of AMD patients, so the number of candidates for the treatment is relatively small. Still, this is a very important proof-of-concept study that holds a great deal of promise for the future.

Reference: First Gene Therapy for AMD Performed (February 19, 2019)

With recent successes in gene replacement therapy, scientists are enthused about studying how genetic variants play a part in AMD.

Previous research has identified 34 small genomic regions (“loci”) on the DNA molecule and 52 genetic variants (mutations) within those loci that are associated with AMD. Variants can regulate certain genes to either turn on or off , so the question is “which genes are being regulated by the variants in AMD?” 

A study published Feb. 11 in Nature Genetics identified target disease genes at 6 of the 34 AMD loci, two of which are the most likely to affect several of the AMD-related cell functions. In addition, three additional target genes were discovered, which had never before been associated with the disease, and 20 more genes were also found that could be candidates for involvement in development of AMD.

This work is exemplative of the exponentially expanding research in the genetics of AMD. Future studies will aim to explain the function of the target AMD genes to determine how they relate to AMD development and to look for targets for new treatment strategies.

Reference: New Findings in Genetic Pathologies of AMD (February 2, 2019) 

Adverum Biotechnologies, Inc. has announced progress with yet another therapy designed to extend the time up to 16 months between anti-VEGF injections for treatment of wet AMD. The company’s Investigational New Drug (IND) application has been approved for a multi-center study of ADVM-022, a novel gene therapy candidate for the treatment of wAMD.

Adverum is looking forward to initiating the new OPTIC clinical trial in the fourth quarter of this year, with each patient being followed for a total of 2 years.

Reference: Novel Gene Therapy for Wet AMD Approved For Trials (September 2, 2018)

STEM CELL REPLACEMENT THERAPY

Using a novel stem cell-based therapy, researchers at the National Eye Institute (NEI) have prevented blindness in animal models of geographic atrophy, the advanced “dry” form of AMD. This sets the stage for a first human clinical trial testing the therapy in people with geographic atrophy, for which there is currently no treatment.

The therapy is an attempt to shore up the health of remaining photoreceptors by replacing dying retinal pigment epithelial (RPE) cells with sheets of new RPE derived from stem cells. The investigators report that the transplanted cells functioned properly and safely.

The planning of a Phase I clinical trial testing the safety of the therapy in humans is underway and will be initiated after FDA approval.

Reference: NIH researchers prevent blindness in animal models of dry AMD (January 20, 2019)

A second trial begun in 2018 is showing positive results with replacing defective cells leading to vision loss from dry (geographic) macular degeneration. Implanted cells derived from stem cells have been implanted into five patients by researchers from University of Southern California (USC) and the University of California, Santa Barbara. Results at one year have shown that one patient’s acuity improved by 17 letters and two patients demonstrated improved ability to fixate on a target. Significantly, no patients have demonstrated progressive vision loss during the trial.

Reference: Second Trial Showing Efficacy for Stem Cell Treatment of Dry AMD (September 16, 2018)

LIVING WITH LOW VISION

Researchers at the University of Queensland have found an association between Charles Bonnet Syndrome (CBS) and abnormally heightened activity in the visual cortex of the brain.

According to the researchers, up to 40% of people with loss of vision experience hallucinations, which are thought to result from interrupted neural signals to the visual cortex (the part of the brain that interprets sight). The hallucinations involve flashes of light, shapes, or geometric patterns and/or complex hallucinations, including faces, animals, or entire scenes.

The reason why some people experience CBS and others do not has been a mystery, but this study may have hit upon the answer. Exposing macular degeneration patients to various flickering images while performing a task using their peripheral visual fields, the researchers found that CBS individuals showed strikingly elevated visual cortical responses to peripheral field stimulation compared with patients without hallucinations. This offers direct support for the hypothesis of visual cortical hyperexcitability in patients with CBS.

Knowing that the syndrome is a neural disorder, rather than a brain disorder, should relieve patients of unnecessary worry, which alone might help to reduce the frequency of the hallucinations and offer some comfort to the patient. Most important, it may give doctors a subjective means of diagnosing and treating CBS.

Reference: Possible Cause of Charles Bonnet Syndrome Discovered (October 28, 2018)

A report from the National Poll on Healthy Aging reveals that more than half of older patients surveyed said their primary care providers have not asked them about their vision. Considering the number of ailments that can affect the aging population, vision is unfortunately often overlooked. This is concerning, since the incidence of AMD will likely increase as the number of senior adults grows. There is not yet a cure for the “dry” form of the disease, but the “wet” form (wherein blood vessels leak into the retinal layers) can be treated if caught early.

The researchers wrote that “Findings from this poll underscore the important role that primary care providers play in promoting eye health. People with diabetes, a history of eye disease, or lower household incomes were more likely to have had a conversation about vision with their primary care provider, suggesting that primary care providers may be more likely to discuss eye health with those known to be at high risk for eye conditions”. 

AMD, however, does not always show symptoms until it has progressed significantly. For that reason, every senior adult should request that at least a cursory eye exam be performed at each annual physical.

Reference: Primary Care Physicians Are Neglecting Vision (October 22, 2018)

In view of a recent surge in media reporting about blue light damage from digital devices, it is important to remember that there is no scientific evidence that blue light from such devices causes eye damage. The sun, and full spectrum lamps which imitate the sun, are the two strongest and most common sources of blue light. Even so, the research is evenly split on whether a significant hazard exists, and by comparison, blue light intensity from screens is much less than either of those sources.

Warnings of impending danger from screens should be viewed with a certain amount of healthy skepticism until well-supported evidence can be presented. Instead of avoiding digital screens altogether, it may be prudent to simply follow sensible practices like limiting screen time, taking periodic breaks, and taking advantage of light-filtering options.

Reference: Danger of Blue Light From Screens May Be Overstated (August 11, 2018)

NUTRITION

Australian investigators have found that patients who consumed two or more eggs per week reduced their risk of developing wet age-related macular degeneration (wAMD) by 62% compared to those who consumed 1 or fewer. 2,034 AMD patients were quizzed about their egg consumption and AMD status over a study period of 15 years. Participants who reported eating between two and four eggs per week at baseline had a 62% reduced risk of wAMD after 15 years compared to those who consumed 1 egg or less per week at baseline. No significant links were found between egg consumption and early dry AMD, and no added benefit was observed in those who consumed more than one or more eggs per day.

A likely reason for the benefit of egg consumption is that they are a rich source of the carotenoids lutein and zeaxanthin, which, like dark green leafy vegetables, are recommended for their high antioxidant value.

Reference: Egg Consumption Linked to Lower Risk of wet AMD (April 29, 2019)

MISCELLANEOUS RESEARCH & DEVELOPMENTS

A recent study by researchers at the University of Alabama at Birmingham School of Medicine, has looked into the association between AMD and gout. Gout is a form of arthritis resulting from inflammation in the joints.

After gathering data from 1,684,314 participants age 65 and older, results showed that the presence of gout increased the risk of developing AMD by 40 percent. One possible explanation is that gout is associated with an abnormally high level of uric acid in the blood, which is related to oxidative stress, an important pathway for AMD.

Further research will be required to fully understand the mechanisms behind the association of gout with an increased risk of AMD, as this study only shows a correlational relationship.

Reference: Gout Associated With Increased Risk of AMD (September 6, 2018)

As of June 2, 2018, the law requires that audio description for the blind and visually impaired be made available by all digital first-run movie theaters. Almost all applicable theaters have complied, and others are in the process of converting to digital and upgrading to include description equipment.

Audio description has been randomly available since the 1990’s for some live plays, movies, television shows, and DVDs, but this is the first time the service has been required by law in movie theaters. Some companies, like Cinemark, AMC, and Regal, have been offering accessible movies, but others have been late getting on the boat. This resistance partially motivated the amendment to the Americans with Disabilities Act that led to the Justice Department signing it into law in late 2016, finally taking effect last June.

Reference: Let’s All Go to the Movies! (July 29, 2018)

TECHNOLOGY

Artificial intelligence (AI) makes it possible for machines to learn from experience, adjust to new inputs, and perform human-like tasks. It provides us with human-like interactions with computers and helps us with difficult decision making.

During this past 12 months, we have seen incorporation of AI into many devices for blind and visually impaired people. Such devices include self-driving vehicles, reading machines, face recognition software, and navigation software. In addition, the capabilities of AI in tandem with eye care, diagnosis, and treatment are being dramatically realized, with new uses seemingly being discovered daily.

The full potential of AI is yet to be seen. In the areas of eye care and low vision rehabilitation, we can look forward to it playing a major role in helping to:

  • Ensure drug safety by enabling pharmaceutical manufacturers to quickly determine the quality, efficacy, and safety of new products
  • Get new therapies to market faster
  • Speed up clinical trials
  • Ensure more accurate clinical diagnoses
  • Ensure optimum treatment choices by doctors
  • Make more precise decisions about optimal daily living choices

We are increasingly able to enjoy and benefit from the evolution of yet another direction science is taking to make the world a safer and more accessible place.

Reference: What is Artificial Intelligence and How Can It Help Me? (February 2019)

Electronic desktop and portable reading machines serve the need well, but they are bulky and pricey. Plus, they are not convenient for spot reading at a moment’s notice. So far, no portable handheld electronic reader has been developed for use when out and around. Until such a device becomes available, however, a good work-around can be had for less than $200.

Since 2017, Microsoft has offered a free reading application for Apple devices. Designed to work in conjunction with VoiceOver, Seeing AI reads short text and even full documents quickly and easily. Many people think they need an expensive smart phone with a paid monthly cell service to use this app. That is not necessary. It works with Wi-Fi only. For as little as $150, a thrift-minded person could purchase a refurbished iPod Touch (essentially a small iPad) from Apple at https://www.apple.com/shop/refurbished/ipod, then load it with Seeing AI to create a very useful and relatively inexpensive portable handheld electronic reader. And the iPod can also be used to browse the Internet or use email for those who are so inclined.

So for less than the cost of a pair of cheap glasses, with a little practice at basic technology, and with access to Wi-Fi (available almost everywhere these days), reading does not have to be an insurmountable problem anymore for visually impaired people.

Reference: A portable hand-held electronic reader for less than $200 (April 29, 2019)

THE FUTURE

Technology and developments in treatment and research are taking us ever more rapidly into a promising future. While artificial intelligence, optical character recognition, and digital advancements are making life with low vision more manageable, breakthroughs in pharmacology, genetics, and surgical techniques are paving the way to better diagnoses, treatment, and preservation of vision.

We look forward to advancements in patient health care such as earlier detection, improvements in self-monitoring, and treatment plans tailored to individual patients. We also anticipate more accurate methods for determining prognoses and expected severity of each patient’s particular condition.

Every year brings new hope. We need to look back only a decade to appreciate how far we have come, and to renew our hope for whatever the next year brings. If not for us, at least for those who are encouraged and comforted by following in our footsteps.


Presented to the International Low Vision Support Group
by Dan Roberts, Director
June 2019