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Luxturna, Gene Therapy and Your Inherited Retinal Disease

A scene as it might be viewed by a person with retinitis pigmentosa.

Caption: Scene as Viewed by Person with Retinitis Pigmentosa

In December 2017, news broke to great fanfare that the FDA had approved the first ever gene therapy for a genetic disease. Luxturna (voretigene neparvovec-rzyl) had been proven to restore vision in people living with inherited retinal diseases. Stories about children seeing their parents’ faces for the first time and adults putting away their white canes forever were widely circulated. As a vision rehabilitation specialist, I’ve been approached by clients who ask how they too can become pioneers in the nascent field of gene therapy. It was time to look into Spark Therapeutics Inc., the company behind the research, development, and manufacturing of Luxturna, to get some answers. Dr. Paulo Falabella, M.D., Medical Affairs Ophthalmic Lead at Spark Therapeutics, helped me understand the science behind the revolutionary treatment. I also spoke to members of the Spark Therapeutics Generation Patient Services support team about the process and the cost. For those anxious to receive treatment today, my findings may disappoint. But I can say with confidence that there are many more therapies on the horizon, and Luxturna heralds a new era for those who have lost vision to inherited retinal diseases.

Will Luxturna Work for My Particular Form of Inherited Retinal Disease?

Quite honestly, the chances are slim. As of this post, only patients with Leber congenital amaurosis (LCA) and about 4 percent of people diagnosed with retinitis pigmentosa will qualify. Over 250 genetic mutations cause eye conditions that share the hallmarks of night blindness and field loss, but this treatment is tailored to just one specific gene—RPE65. Roughly, 1,000 to 2,000 people out of an estimated 10 million in the United States can trace their inherited retinal disease to an RPE65 gene mutation. The pool of candidates is whittled down even further as physicians must determine whether each patient has enough viable retinal cells to benefit from the therapy.

What Exactly Is Gene Therapy?

Genetic diseases are the result of mutations in a gene that lead to disease in specific cells. With gene therapy, a functional gene restores the health of a mutated gene. Luxturna offers gene augmentation therapy with the addition of a healthy, normal copy of the RPE65 gene, which helps retinal cells re-establish their metabolism. Unlike gene editing, no DNA is removed.

How Does a Mutation In an RPE65 Gene Lead to Vision Loss?

In a healthy eye, light is converted into electric signals that the brain interprets through a chemical process called the visual cycle. RPE65 is responsible for creating a protein that is integral to this process. In people with an RPE65 gene mutation, the retinal cells are unable to make the protein, blocking the visual cycle. This causes a buildup of a toxic byproduct that leads to the death of retinal cells.

How Does Luxturna Work?

Luxturna is delivered to the eye tissue through a subretinal injection. It contains a solution of viruses that have been engineered in the lab. The virus serves as a vehicle that ferries a healthy copy of the RPE65 gene into the retinal cells. "So instead of carrying DNA that causes disease, we 'infect' the cells in a good way," Dr. Falabella explained.

Does Luxturna Really Improve Vision?

Spark Therapeutics first demonstrated the effectiveness of Luxturna in clinical trials with a multi-luminance mobility test (MLMT). Participants were scored on speed and accuracy as they walked through an indoor obstacle course that simulated real-world navigational challenges like low hanging branches, steps, and other tripping hazards. Because people with the RPE65 gene mutation have difficulty traveling in low light, the course was completed under seven light conditions simulating bright daylight to the darkness of a moonless night. A year after treatment, 27 out of the 29 participants ages 4 to 44 had dramatically improved scores and most saw improvement in just 30 days.

That was the hard science that was presented to the FDA advisory panel, but the personal stories circulating on the Internet are infinitely more compelling. Perhaps the most famous clinical trial recipient of RPE65 gene therapy is 2017 America’s Got Talent contestant Christian Guardino, who was introduced to the media as someone who was "formerly" blind.

In March 2018, 13-year-old Jack Hogan became the first person to receive treatment following FDA approval. Just two months later, he revealed in an article published by Massachusetts Eye and Ear hospital that he is able to play outside with friends after dark for the first time.

How Do I Find Out If RPE65 Is the Cause of My Vision Loss?

Eye Want 2 Know is Spark's online resource for people who want to identify the gene mutation that caused their inherited retinal disease. This resource helps patients and their health care providers navigate the process of obtaining a genetic test. Eye Want 2 Know also features personal stories in Community Perspectives which highlight how genetic testing can lead to opportunities to contribute to research, prevent misdiagnoses, and connect with others who share the disease.

Where Do I Get the Treatment and What Does the Treatment Involve?

Patients will need to travel to one of the ten Ocular Gene Therapy Treatment Centers scattered across the US that have been approved by Spark Therapeutics. A retinal surgeon will inject a drop of Luxturna containing approximately 150 billion viruses into the eye tissue. This one-time treatment will take a week or more because the first eye will require a minimum of six days to heal before surgery on the other eye can be performed.

Even If It Is a Long Shot, How Can I Find Out If Luxturna Would Work for Me?

Contact Spark Therapeutics and connect with the Generation Patient Services team, which offers support from diagnosis to post-surgery follow-up. The team will connect with your physician and help you enroll you in the program. If you are found to be a candidate for Luxturna gene therapy, Generation Patient Services will orchestrate the logistics of treatment. Most importantly, the team will work with your insurance company and look for other ways to cover costs.

How Much Does It Cost?

You could hear the collective gasp when the sticker price of Luxturna was set at $850,000. Spark Therapeutics aimed to deflect the backlash by announcing that the company had dedicated resources to educating insurance providers about the value of gene therapy in an effort to negotiate optimal rates. Spark Therapeutics is also working with non-profit 501(c)(3) companies to find other funding streams for those on Medicaid or Medicare, which do not offer coverage, as well as for the un- and underinsured.

High costs for treatments coming out of biotech have unleashed a mad scramble in the insurance industry to come up with strategies for reigning in costs. A rebate program based on a drug’s effectiveness is being touted as one promising out-of-the-box solution by some and mocked as a weak Band-Aid approach by critics.

Of course, Spark Therapeutics is just one small player when it comes to the challenge of affixing a price tag to a priceless medical treatment. The biotech industry, insurance companies, and government leaders are going to need to match the creativity and innovation of the research laboratories to keep prices from hitting the stratosphere. Scientists demonstrated remarkable grit in their arduous quest for a viable gene therapy. Policymakers will need to muster an equal amount of fortitude and resolve as they wade into the rough waters of our current healthcare system.

Will There Be a Cure for My Type of Inherited Disease in the Near Future?

Certainly, there is hope. "Gene therapy has been around for 50 years, and this particular study that led to Luxturna had been around for 20 plus years. To cross the finish line and to bring official treatment to the public brings hope not only for patients and their families but for the research community as a whole," Dr. Falabella said.

Developments in gene therapy and cell therapy as well were already accelerating, so this breakthrough has injected rocket fuel to that upward trajectory. Research into treatments for Choroideremia and Stargardt Disease are already underway at Spark Therapeutics. To stay abreast of cutting-edge treatments, Dr. Falabella encourages people to connect with the Foundation Fighting Blindness, a nonprofit organization with a mission to drive the research that will provide preventions, treatments, and cures for people affected by retinitis pigmentosa, Usher syndrome, and the entire spectrum of retinal degenerative diseases. The Foundation now offers My Retina Tracker, a free online registry for children and adults with inherited retinal disease as well as their family members. Qualified researchers can mine the database to support their investigations or use it to facilitate clinical trial enrollments. United States residents who are enrolled in My Retina Tracker can join the Genetic Testing Study, which offers a genetic test and associated counseling typically valued at $1200 at no cost to the participant. The Foundation Fighting Blindness anticipates funding through 2019 but, as the Genetic Testing Study is a donor-supported initiative, ongoing funding is not guaranteed.

As patients and healthcare providers closely track developments in emerging medical treatments, I encourage everyone to participate in the public discourse about managing costs. Gene therapy was once the stuff of fantasy. But if we cannot make these therapies a reality for all, they might as well stay trapped in the realm of science fiction.

Additional Information About Gene Therapy and a Discussion of Its Costs

The Reality and Costs of Gene Therapy for Eye Disease


A Tactile Roadmap to Help You Learn to Use an iDevice

Do you have one of those new iDevices? That’s right. Those marvels of technology that are supposed to do almost anything. Everyone is constantly telling you how great their smartphone or iPad is and all of the fantastic things that they can do with it. But you can't imagine how they are doing it. After all, there are no keys and only one button on the screen that you can use to navigate around. You know that you are missing something important going on behind that smooth piece of glass. So where do you start?

Hesitant to Learn New Technology

I often have the opportunity to share iDevice instruction with others like myself who have low vision or no eyesight. The above comments were actually shared with one of my recent students. The challenge for me was going to be in creating a way to show her a tactile roadmap of the types of items that could be found behind the glass screen of her iDevice. She was very apprehensive about learning something new and admitted that she had reasonable computer skills, but this type of device may be beyond her ability to learn.

teaching tool template of cutouts for apps on iphone

Caption: Tactile iPan Template

Creating the First "iPan"

As I got to know her a bit better, she shared with me some of her interests, including her love of cooking. So, I decided to start teaching her about iOS devices by using familiar items from her kitchen. I took a small baking pan and turned it onto the backside. This would emulate the tactile screen of an iPhone where she could explore all of the components and areas of the screen. With the help of a few round bump dots used for the home button; some waxed string for dividing the status bars section, home screen section, and dock; and a few old Scrabble tiles, we were going to have our very first "iPan." Yes, I’m sure that it did look rather ridiculous, but it worked great for identifying the parts of the phone and the different areas of the screen.

With our tactile "iPan," we were ready to explore. The large raised area of the pan made it possible for providing a mental picture of how the screen was divided and the position of the apps. There was even enough room for some single-finger swiping forward and backward as well as swiping up and down to get the hang of all of that gesture terminology. Once she felt confident about having a mental roadmap of where everything was located, it was time to use her iPhone.

Learning iPhone Accessibility Basics

We started with the basic single-finger touch near the upper left of the home screen, allowing her to swipe through each of the spoken apps without missing anything on the screen. She soon was able to navigate to each area of the screen and move around with confidence. She shared with me that no one had ever really explained to her how things were arranged on the screen. I also shared some of the basic features of many apps with her, such as the position of back buttons that tend to be in the upper left-hand corner as well as tabs that appear toward the bottom of the screen near the home button. Of course, there are always exceptions but focusing on concepts that provide similar features will help her navigate new apps.

If you have ever had the opportunity to show another person how to do something that they really desire to learn and then experience that "ah ha" moment when you realize they "got it," you can understand why teachers are willing to improvise. So the next time you reach into your cabinet for a baking pan, just remember that it could be the next instructional tool that opens the door to learning a new skill.

Additional Resources

Are You Afraid to Take Up a New Smartphone and Other iDevice?

Help for Apple Device Users

I Finally Got an iPhone!


A Useful Tool: i.d. mate Galaxy Dedicated Barcode Scanner

In the era of "Swiss army knife-esque" devices with lots of bells and whistles, smartphones have apps to do virtually any task. It’s easy to lose sight of the value of a piece of assistive technology (AT) that is dedicated to a specific task and does it really well. As consumers, we’ve also gotten lulled into the cheaper prices of some of the apps and find it hard to justify the cost of a device with more of a singular focus. Likewise, if we are counting on funding assistance through a state agency for a more expensive device, they may need specific details on how a more costly, dedicated item is worth the added expense.

device resembling remote control for tv with shoulder carry showing array of tactile well-spaced buttons on the top of the hand-held remote

Caption: I.d. mate Galaxy

One such dedicated device that quickly comes to mind is En-Vision America’s I.d. mate Galaxy. En-Vision America is a U.S. company that has been around for many years, and their most recent barcode scanner, the Galaxy, is the latest in a line of scanners that goes back 20 years.

Design Features

The i.d. mate is designed to make reading barcodes, and using barcodes, as labels simple and efficient. When holding the i.d. mate with the buttons facing up, it’s immediately obvious that the buttons for operation are distinct and spaced far enough apart to make them easy to identify. The unit is also light and fits comfortably in either hand. These touches of detail are included everywhere such as the sturdy lanyard that ships with the i.d. mate and the leather pouch the i.d. mate comes with. The pouch includes plenty of room for the USB cable, the i.d. mate, and ample storage for additional items like extra labels. A user guide is accessible from the Help section, and it is easy to follow using the up and down arrows to read a section at a time.

Operating the Device

Operating the device is straightforward and has the same attention to detail in the designs makes the i.d. mate easy to use. To operate, press the power button; the Galaxy beeps as it starts up; then you hear the French horns and the opening, "i.d. mate Galaxy," spoken. Users are immediately in "i.d. mode," and can begin searching for the barcode. The laser used to detect barcodes and UPC codes is very sensitive and seems to pick up the codes readily from a couple inches. The barcode apps rely on the smartphone or tablet camera to detect the barcodes and these may not be as refined for detection as the i.d. mate’s laser.

Other Features

Database

Unlike the smartphone and tablet apps that detect barcodes, the database used to make the identification on the i.d. mate is in the memory on the device, so no internet connection is required for identification. The unit does have WIFI, so when connected, it can update the database, or do an "online price check." The price check, when initiated, located an item just scanned on Amazon and reported the price.

Voice Recorder

One of the most useful features, in addition to the scanner, is a voice recorder. While this can be used for recording audio memos, in this case audio memos can be associated with a barcode. So, for example, a recipe or directions might be recorded and associated with the barcode of a specific product. With some creativity, this feature alone might be integrated in a variety of office settings—using a printed barcode on a sticky note to identify paperwork, a deadline, a procedure, etc. Recordings may be added together or erased. So, for example the progress of an item, or paperwork, might be tracked or notes added periodically, simply by recording another memo after the barcode.

Mp3 Player

The recorder is also an mp3 player. When connected to a computer via the USB cable, files may be transferred to and from the SD card. The SD card can also be removed and placed in a computer for file transfer. In this fashion, recordings to be saved may be transferred and mp3 files also uploaded to the i.d. mate. There is a headphone jack on the device, and the audio playback can be turned up surprisingly loudly for a device only 7 inches long. We often think of mp3 audio files as music and entertainment, but these may also be educational, or training podcasts used in a work environment.

Inventory Mode

An "Inventory Mode" takes scanning to the next level for anyone managing a shop, or in an environment where products are being moved regularly. Using the inventory mode, a scanned item can have a starting quantity attached to it, so that scans in the future subsequently add or subtract from the overall number available. At any given time, the i.d. mate has an accurate account of what inventory is available.

Summary

Overall, the i.d. mate is very intuitive to use. The menu is comprehensive but not so layered and deep that it is easy to get lost. I found it was easier to just jump into the various menu items and resort to the user guide for very specific items. For example, I tried several times to add the WIFI passcode using the up and down arrow keys but finally had to break down and consult the help section to figure out how to create a capital letter. This will certainly expose the Luddite in me! But I also like the fact that the i.d. mate Galaxy, which first came out as a model 2 years ago, is heavily based on the i.d. mate Quest, and, except for several updates, has changed little. Users spend time being productive with it, rather than regularly learning new features or how to deal with the ones that broke during the update.

Ultimately, the i.d. mate Galaxy, at $1295 remains a solid, dedicated piece of assistive technology that gets the job of barcode scanning done well. It is a relatively simple, efficient tool that will easily pay for itself in the workplace and even at home and in the grocery store! It offers a far less complicated tool than a smartphone or tablet whose apps may do the job less effectively. Many users will applaud its easy to use menus and responsiveness.


Diabetes and Diabetic Eye Disease Awareness Month

Did you know that the leading causes of blindness among working age adults, may also be one of the most preventable eye diseases? November is Diabetes and Diabetic Eye Disease Awareness Month. Diabetic Retinopathy, one of the eye diseases associated with diabetes, is the leading cause of blindness among working age adults, according to the National Eye Institute (NEI). In fact, NEI also reports that between 40%-45% of individuals with diabetes have some stage of diabetic retinopathy, yet only half that number are aware of it!

NEI poster stay one step ahead of diabetic eye disease get a dilated eye exam

During a recent webinar hosted by low vision doctor, Lynne P. Noon, OD, for Eschenbach Optik of America, Dr. Noon shared statistics that highlighted the increase of patients with vision loss from diabetic retinopathy. She reported that in recent years, the number of patients with diabetic retinopathy is approaching the number of patients with Age-Related Macular Degeneration (AMD). Much of this increase was attributed to the increased rate of obesity and subsequent increase on the prevalence of Type II Diabetes.

How Common Is Diabetes?

The Center for Disease Control and Prevention (CDC) that 9.3% of all Americans have diabetes—that is nearly 1 person out of 10, or just over 29 million people in the United State alone! In addition, nearly 1/3 of the people with diabetes are undiagnosed!

Preventing Vision Loss from Diabetic Eye Disease

Early diagnosis of diabetes is key. It is critical to have a comprehensive dilated eye exam to look for signs of diabetic eye diseases. Anyone with diabetes should have a dilated eye exam once a year.

Consider this, according to the National Eye Institute, detecting and treating diabetic eye disease early reduces the risk of blindness by 95%! What’s your vision worth to you?

Find Out About Low Vision and Vision Rehabilitation Services

If you experience a vision loss from diabetic eye disease be sure to ask the eye doctor about a follow-up with a low vision doctor, low vision therapist and a vision rehabilitation therapist, to maximize your remaining vision and teach teach you new techniques for daily living tasks using your remaining vision. To find these services near you, check out the VisionAware Directory of Services.

Learn More About Diabetic Eye Disease

Check out Maureen Duffy’s comprehensive article, November is Diabetic Eye Disease Awareness Month: Learn More About Diabetes and Your Eyes.

Read Audrey Demmitt's (RN and diabetes educator) series on reducing risk of diabetic eye disease.

Find out about living with diabetes and vision loss.


World Sight Day: Learn More About "Avoidable Blindness" and Schedule a Comprehensive Eye Examination

logo for world sight day 2018 with letters in braille

World Sight Day is an international "day of awareness," coordinated by the International Agency for the Prevention of Blindness (IAPB).

The purpose of World Site Day is to focus attention on the global issue of avoidable blindness and visual impairment. It is held each year on the second Thursday of October.

This year, World Sight Day will be held on October 11, 2018, with the theme of Eye Care Everywhere.

Important Messages on World Sight Day

These are the key international messages for World Sight Day:

  • Approximately 285 million people worldwide live with low vision and blindness.
  • Of these, 39 million people are blind and 246 million have moderate or severe visual impairment.
  • 1.2 billion people don’t have access to glasses.

  • 90% of blind people live in low-income countries.
  • 80% of visual impairment is avoidable, meaning readily treatable and/or preventable.
  • Restorations of sight and blindness prevention strategies are among the most cost-effective interventions in health care.
  • About 65% of all people who are visually impaired are aged 50 and older, while this age group comprises only 20% of the world's population.
  • Increasing elderly populations in many countries mean that more people will be at risk of age-related visual impairment.

More About "Avoidable Blindness"

The International Agency for the Prevention of Blindness (IAPB) describes avoidable blindness and eye diseases that cause blindness as follows:

  • Aging and the Eye: "Vision loss does not need to be an inevitable part of the aging process. Thanks to improvements in diagnosis, treatment, and prevention, people can age with healthy vision." You can read more about these age-related eye diseases and disorders at For Seniors: Age-Related Vision Loss at VisionAware.
  • Cataract: "the condition responsible for 48% of world blindness." You can read more about cataracts and cataract surgery at Cataracts at VisionAware.
  • Diabetic Retinopathy: "Diabetes is becoming a global epidemic and is now one of the top causes of vision loss globally." You can read more about diabetes and diabetic retinopathy at Introduction to Diabetes and Diabetic Retinopathy at VisionAware.
  • Glaucoma: "the second leading cause of blindness and the leading cause of irreversible blindness worldwide." You can read more about glaucoma and glaucoma treatments at Glaucoma at VisionAware.
  • Age-Related Macular Degeneration (AMD): "the third most important cause of blindness in the world and the leading cause of blindness in higher-income countries with aging populations." You can read more about macular degeneration causes, treatments, and research at Age-Related Macular Degeneration at VisionAware.
  • Health Systems: "Historically, eye care has been seen as separate from the rest of health system but there is now widespread recognition that those planning and delivering eye care need to engage with the wider health system in order to develop effective and sustainable eye care interventions." You can read more about the different types of eye care professionals at VisionAware.
  • Human Resources for Eye Health: "one of the building blocks of a health system. A well-equipped, trained, managed, and distributed health workforce is essential for a fully functional health system, responsive to the needs of the community it serves." You can read more about human resources and eye health at VisionAware.
  • Low Vision: "Of the 285 million people worldwide with vision impairment, there are 80 million people who have permanent vision impairment and potentially can benefit from low vision services. Most of those with low vision are older people and the numbers will double over the next 20-30 years." You can read more about low vision examinations and services at What Is Low Vision? at VisionAware.

On World Sight Day, Schedule a Comprehensive Eye Examination

A comprehensive dilated eye examination generally lasts between 30 and 60 minutes, and is performed by an ophthalmologist or optometrist. It should always include the following components:

A Health and Medication History

  • Your overall health and that of your immediate family
  • The medications you are taking (both prescription and over-the-counter)
  • Questions about high blood pressure (hypertension), diabetes, smoking, and sun exposure.

A Vision History

  • How well you can see at present, including any recent changes in your vision
  • Eye diseases that you or your family members have had, including macular degeneration and glaucoma
  • Previous eye treatments, surgeries, or injuries
  • The date of your last eye examination

As part of the vision history, the doctor may ask you the following questions:

  • Are you having any problems with your vision?
  • How long have you had these problems?
  • When do these problems occur?
  • When was your last eye examination?
  • Do you have any family history of eye problems?
  • How is your general health?
  • What medications are you taking?
  • Do you have any allergies?

This history of your own health and that of your family can give the doctor an indication of any issues that may be affecting, or could affect, your vision.

An Eye Health Evaluation

  • An examination of the external parts of your eyes: the whites of the eyes, the iris, pupil, eyelids, and eyelashes.
  • A dilated eye (or fundus) examination that can be achieved with the use of special lenses will allow your doctor to see inside your eye and examine the retina and optic nerve. Your doctor might choose to use eye drops to see the retina and optic nerve more clearly.
  • A test of the fluid pressure within your eyes to check for the possibility of glaucoma.

A Refraction, or Visual Acuity Testing

A refraction helps determine the sharpness or clarity of both your near (reading) and distance vision.

This includes testing your vision with lenses in different strengths to determine if your vision can be improved or corrected with regular glasses or contact lenses.

Visual Field Testing

Visual field testing helps determine how much side (or peripheral) vision you have and how much surrounding area you can see.

Humphrey Field Analyzer

The most common type of visual field test in a comprehensive eye exam is called a confrontation field test, in which the doctor briefly flashes several fingers in each of the four quadrants (above, below, right, and left) of your visual field while seated opposite you.

In some cases, your doctor may also want to perform a more precise visual field measurement, using a computerized visual field analyzer, such as the Humphrey Field Analyzer (pictured at left).

Your Examination Results

The doctor will be able to determine if the visual problems you are experiencing are normal age-related changes or are disease-related, and if additional testing, referral to another doctor or specialist, or treatments are needed.

Locate an Eye Care Professional in Your Area


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