Author: Eve Orcutt

Curing Blindness: The Road To Treatment With LUXTURNA™

This is the first in a series following the progress of Creed Pettit, a 9-year-old Florida third-grader, who is a candidate for the breakthrough gene-therapy drug called LUXTURNA™, approved as the first gene therapy for Leber congenital amaurosis (LCA), and as the first-ever genetic therapy in the United States for an inherited disease.

A birthday wish for 9-year-old Creed Pettit, diagnosed with LCA-RPE65, comes closer than ever to coming true today when the Florida boy and his mom meet with a surgeon to schedule treatment with LUXTURNA™, the just-approved, revolutionary gene therapy that corrects his specific gene mutation.

Creed smiling and holding up a piece of paper that writes, "My last birthday with LCA! #RPE65 #CREED
Creed, LCA2 RPE65

Creed had wished that his January 9th birthday would mark his very last with LCA-RPE65.

This third time might truly be the charm for Creed, as his mom, 41-year-old Sarah St. Pierre-Pettit of Mount Dora, Fla., twice tried to get her son, at ages 3 and 4, into clinical gene-therapy trials in Iowa. He was not approved for the trial because he could not perform steps required by the study, such as trying to navigate a maze.

Sarah learned a few days ago that her insurance company gave the go-ahead to schedule the surgery that costs $850,000.

“No more hurdles,” she wrote in an email. “I am a wreck of happy tears!!!”

Sarah and her son drove to Miami’s Bascom Palmer Eye Institute to meet today with Dr. Audina Berrocal to discuss the procedure and answer questions.

Brand new treatment

It was last October when decades of research culminated in a Food and Drug Administration advisory committee hearing in which the group recommended approval of LUXTURNA™, Spark Therapeutics’ breakthrough gene-therapy treatment.  

“One of the doctors spoke about my son in the FDA approval process, which was just amazing,” Sarah said. “That day I knew Creed could be treated.”

Creed and his mom Sarah sitting on steps.
Creed and his mom, Sarah St. Pierre-Pettit of Mount Dora, Fla. Creed meets with his surgeon Feb. 19 to schedule his treatment with LUXTURNA to reverse his blindness caused by LCA-RPE65.

Hope in Focus (formally Sofia Sees Hope) founder and board chair Laura Manfre also counted among those speaking on behalf of this ground-breaking treatment, sharing with the committee a story of a woman whose vision greatly improved in the clinical trials and changed her life.

The FDA granted approval of the treatment in December, paving the way for patients like Creed with LCA-RPE65 to receive, LUXTURNA™, the first genetic therapy treatment for an inherited retinal disease (IRD), and the first genetic therapy in the United States created for any inherited disease.

RPE65 is a form of Leber congenital amaurosis in which the body can’t make a protein needed by the retina to convert light into vision-enabling signals, which are sent to the brain. This new therapy involves injecting under the retina a human-engineered virus containing copies of a normal gene, so cells can express the protein. LCA is a rare inherited retinal disease, and nearly 30 gene mutations are associated with it.

Creed said that after the surgery, he can’t wait to see a real rainbow and he can’t wait to throw his canes in the lake.

His mom, on speakerphone last week while driving to pick up a new batch of “Creed’s Cause” T-shirts that she designed, talked about her most recent effort to help pay for medical bills not covered by insurance, and for travel expenses.

At $20 apiece, Sarah sells them locally and through Facebook and Instagram. When she’s not making T-shirts, she’s an elementary school physical education assistant, and hosts trivia nights at a brewery owned by her sister and brother-in-law.

Creed is a third-grader at Mount Dora Christian Academy, a school that better serves his needs than the public system. MDCA is like family to Creed and his mom, hosting lots of fundraisers, including a January basketball event that raised $5,000. The Douglas G. Halliday Foundation of Orlando recently made a generous contribution, adding to the more than $100,000 raised from 5K races, a CrossFit event and contributions from many friends and people she doesn’t even know.

Missing milestones

In 2011, doctors diagnosed Creed with LCA; in the months following he received a genetic diagnosis of LCA-RPE65. Image: Toddler-aged Creed wearing patches over both eyes.

Sarah knew something was wrong with her baby shortly after he was born in January 2009.

“He missed all of the milestones. He would run into everything. He wasn’t walking. Instead, he did this weird Army crawl. He’d feel for his food and look up.

“Everything just said something’s not right.”

Then came the heartache of trying to figure out what was wrong. Doctors diagnosed Creed at 18 months old as autistic, and another said he had problems with his peripheral vision.

For the first year of Creed’s life, his mom thought he had colic because he would spend his days contentedly on a blanket outside, and at the end of the day when he went back into the house, he cried, all night.

An autism teacher advised Sarah to black out all the windows in the house, keep everything dark and not allow him to be in light, the exact opposite of what he needed.

She found the right advice from a woman specializing in depth perception and dyslexia. For the first time, and coming from a non-doctor, Sarah learned that her son probably was blind.

Creed with eye patches on his eyes, his mom is holding him
In 2011, doctors diagnosed Creed at 2 years and 8 months with LCA; in the months following he received a genetic diagnosis of LCA-RPE65. A week later, Sarah began her fundraising endeavors.

She also reached out for support that resulted in a team of therapists and specialists to address Creed’s movement, vision, speech, orientation, mobility and behavior.

Trying for a gene therapy trial

Sarah learned about RPE65 gene-therapy trials. She, her mother, Mary, and Creed traveled to Iowa twice for what turned out to be unsuccessful attempts to be part of the research.

Creed’s visual acuity is actually very good; when he has light, he can see. When he doesn’t have light, he can’t see anything. As Sarah says, “No light, no sight.”

He needed light and he got it, with his mom installing special bright lights all over the house.

“I’m positive they can see us in space,” she said of the lights in and around her home. Creed also has more light in school, including a light in his desk.

At school and in life, Creed has another light shining on him – his best buddy Michael, who bonded with him in first grade. He helps him be safe and gives Sarah updates about her son.

She said she can’t believe Michael’s maturity and sensitivity and believes he was put on this earth to help her son and others.

For Valentine’s Day, teachers filled bags with candy and sold them for $1 each, with proceeds going toward Creed’s expenses.

The words on the candy bag say, “Help Creed see how much we love him.”

#KnowYourGene: AGTC Working On Multiple IRD Treatments

Applied Genetic Technologies Corporation (AGTC), a clinical stage biotech company that focuses on rare inherited retinal diseases (IRDs), develops therapies that replace “broken” genes with normal functional genes – treatments that allow a patient’s own body to produce proteins to treat their disease.

As a headline touts from an AGTC website story: “Imagine That the Power to Beat Genetic Disease Lies Within Us.”

The work that companies such as AGTC undertake serves to underscore the importance of genetic testing in the treatment of rare inherited retinal diseases. This month, Sofia Sees Hope has launched a #KnowYourGene campaign in advance of International Rare Disease Day on Feb. 28.

A clinical diagnosis of a named disease is not enough to help find cures and treatments for these and other rare IRDs.

For meaningful and productive research to advance, patients need to take the most important step to help further research into correcting the mutated genes affecting their vision:

  • Get a definitive genetic diagnosis of their eye condition with genetic testing. Talk to your doctor about ordering a test through one of several laboratories or contact Foundation Fighting Blindness (FFB) about free testing.

Genetic testing is key

AGTC (headquartered in Alachua, Fla., with offices in Cambridge, Mass.) strives to get the word out through their patient advocacy work headed by Jill Dolgin, Pharm.D. The company partners with Hope in Focus (formally Sofia Sees Hope (SSH)), which helps fund FFB’s free genetic testing and genetic counseling program.

A priority for AGTC is to find and educate people with rare inherited retinal diseases and encourage them to get genetic testing. Patients with the same gene mutations studied by AGTC could potentially participate in one of their clinical trials.

The company also is collaborating with advocacy groups to inform individuals with the conditions for which AGTC is conducting clinical research, including:

  • Achroma Corp. , an organization providing support and education to those affected individuals and families with Achromatopsia
  • MomsForSight, which provides information to affected individuals and families with X-Linked Retinoschisis
  • Foundation Fighting Blindness of US and Canada
Applied Genetic Technologies Corporation (AGTC), a clinical stage biotech company that focuses on rare inherited retinal diseases (IRDs), develops therapies that replace “broken” genes with normal functional genes – treatments that allow a patient’s own body to produce proteins to treat their disease.

AGTC also reaches people with rare inherited retinal diseases through online and print articles, social media, medical publications, national vision conferences and their website.

What’s in the pipeline

The conditions for which treatments are under Phase 1 and Phase 2 clinical investigation include:

X-linked retinoschisis (XLRS) is the leading cause of macular degeneration in males. An inherited form of retinal degeneration affecting young males, patients affected by XLRS present with poor vision by school age. Visual acuity usually worsens during the teenage years and then can lead to serious complications such as vitreous hemorrhage or retinal detachment during adulthood.

Mutations in the RS1 gene cause early onset retinal disease. In animal models of XLRS, treatment with an AGTC gene-therapy candidate leads to long-term improvement in retinal function and preventing retinal cell degeneration. Based on preclinical proof-of-concept data, AGTC is conducting a clinical study to evaluate the safety and efficacy of an investigational gene therapy in patients with XLRS.

Achromatopsia causes visual acuity loss, extreme light sensitivity resulting in daytime blindness and reduced or complete loss of color distinction. About 75 percent of cases are associated with mutations in the CNGB3 and CNGA3 genes, also known as ACHM B3 and ACHM A3 genes, respectively. The company is currently evaluating a gene therapy in a Phase 1/ 2 trial for individuals diagnosed with Achromatopsia caused by mutations in either the CNGB3 gene or CNGA3 gene.

To better understand the condition, researchers from the University of Pennsylvania School of Veterinary Medicine and the Michigan State University College of Veterinary Medicine filmed a dog with ACHM B3 unsuccessfully trying to navigate a maze. Four months later, after receiving gene therapy treatment developed by AGTC, the pooch easily finds its way through the maze.

Check out the video showing how sheep affected by achromatopsia due to ACHM A3 mutations also were able to successfully navigate a maze following gene therapy administration.

X-Linked Retinitis Pigmentosa (XLRP) is an inherited condition that causes progressive vision loss in boys and young men. Symptoms begin with night blindness in young boys followed by progressive constriction of the field of vision. Affected men become legally blind at about 45 years of age, on average. AGTC is currently recruiting for a Natural History Study, intended to gather information about the condition over time for a better understanding of the disease’s progression and its effect on the individual’s quality of life, and for a Phase 1/ 2 clinical trial.

AGTC is committed to advancing clinical programs to deliver novel gene-based therapies for rare conditions without any available treatment options. The company would like to express its deep appreciation to patients who have participated in their clinical trials and is grateful to its partners for their dedication and continued support.

First, Diagnosis. Then, Genetic Testing. It’s Important.

My Retina Tracker® is a free and secure online registry launched by the Foundation Fighting Blindness that helps connect families dealing with rare inherited retinal diseases to feel less alone, and to find help.

Parents feel shock and isolation when they are told their babies have no vision or limited vision caused by a rare inherited retinal disease. They do adapt and pursue resources, but that feeling of isolation often persists because of the disease’s rarity. It’s unlikely you will bump into someone in the grocery store whose child also has retinitis pigmentosa.

My Retina Tracker® is a free and secure online registry launched by the Foundation Fighting Blindness (FFB) that helps alleviate those feelings of isolation. An individual goes from being one with an inherited retinal disease to becoming part of a growing community of people (currently 6,500) sharing similar concerns and hopes.

The goal of My Retina Tracker® is to drive the research toward prevention, treatments and cures for people living with retinitis pigmentosa (RP), Stargardt disease, Usher syndrome and the whole spectrum of inherited retinal degenerative diseases, including Leber congenital amaurosis (LCA).

The global registry includes rare inherited retinal disease patient disease information from Europe, North, South and Central America, Asia and the Pacific.

‘Stand up’ and be included

Dr. Brian Mansfield, FFB’s deputy research officer who managed the registry’s launch three years ago, said people registering take an active role in advancing research to find treatments and cures for specific rare inherited retinal diseases, affording the opportunity to join others and “stand up and be counted.”

“Whether you’re in the middle of New York City or in a small town in West Virginia,” Dr. Mansfield said, “you’re equal to everyone else in that registry. It removes isolation. You’re literally standing up.”

My Retina Tracker® notifies registrants of clinical trials and gives researchers access to their disease data – but not their personal information – to advance research and therapy development associated with IRDs.

To optimize the power of My Retina Tracker®, registrants should seek a genetic diagnosis. The registry facilitates that by making registrants eligible for free genetic testing. In today’s world, it is helpful to be genetically diagnosed if you want to participate in research.

Details of My Retina Tracker® can come none too soon for some. Dr. Mansfield said after LUXTURNA® recently came to market as the first genetic therapy for LCA patients with an RPE65 gene mutation, he came across information about a person who set up a crowd-funding site asking for $5,000 to travel to Texas because he needed a genetic test.

“You don’t have to raise $5,000 to get a genetic test,” Dr. Mansfield said. “You don’t have to travel to Texas to get a genetic test.”

Helping families get tested

Hope in Focus (formally Sofia Sees Hope) well understands the importance of genetic testing for those with rare inherited retinal disease. Part of its mission is to educate individuals and families about the importance of becoming part of patient registries and getting genetically tested. SSH also makes genetic testing accessible to those who cannot afford it.

“Last year, we supported FFB’s (genetic testing) program as a small test grant,” said SSH founder Laura Manfre. “This year, with the success of the test and thanks to the tremendous support of our donors, we are happy that we were able to more than quadruple our contribution, enabling many more individuals to receive free testing and genetic counseling.”

Dr. Mansfield thanked Sofia Sees Hope for for its $65,000 donation to FFB, earmarked for genetic testing.

“The help was truly appreciated,” he said. “I’m very proud of the relationship we have with Sofia Sees Hope.”

How My Retina Tracker® works

Go to myretinatracker.org, click on Register Now and follow the prompts to establish a username and password and to answer questions to build your personalized retinal health profile. You are then guided through a series of questionnaires developed by retinal clinicians, geneticists, genetic counselors and rare inherited retinal disease researchers.

If you have any questions, call the My Retina Tracker® coordinator at 800-683-5555 or email to Coordinator@MyRetinaTracker.org.

Once you’ve registered, send a request to Coordinator@MyRetinaTracker.org asking to be genetically tested and you’ll receive information and guidance on how to order the test.

The registry becomes your personal retinal health record, updated by you and your doctors. Your history and testing results create a critical resource in tracking the progress of your disease and becoming part of a comprehensive database.

The registry employs state-of-the-art database technology to protect privacy and adheres to the highest standards of confidentiality and ethics, following policy and protocol set by the National Institutes of Health’s Institutional Review Board.

Your disease information is accessible only to you,  FFB registry staff, and researchers who meet a rigorous scientific review application process to use the data for studies and to reach individuals to participate in clinical trials, natural history studies or focus groups. Your personal information is never shared with researchers.

Large commercial biotech companies use this pool of data to find people for clinical trials, a common research challenge. Rather than calling clinicians one by one, the data is accessible in one place and often updated.

Clinical trials are out there

The data helps inform researchers about the therapies patients want, the risks they are willing to take for different levels of vision improvement and when and how their vision loss progresses.

Personal updates, such as when someone had to stop driving because of increased vision loss, help track the progress of the patient’s disease.

“Then you have a clinical longitudinal timeline as to how vision is changing for the patient,” Dr. Mansfield said.

Before My Retina Tracker®, the foundation used a paper list of about 12,000 names accumulated over FFB’s 40 years. The names transferred to the new registry to total about 17,500, but many are outdated.

There are about 6,500 people actively engaging in the online portal profile, with about 150 new registrations a month.

Dr. Mansfield wants to reach a minimum goal of 20,000 registrants in the next four years, although 50,000 would be preferable, as it would make for an extremely effective base of data for phase 2 and phase 3 studies that create demand for more trial enrollees.

He also made the distinction that private labs hold onto their data tightly, whereas FFB’s goal is the opposite.

“We want to share it, we want to move the whole field forward,” Dr. Mansfield said. “After all, our goal is to ensure the treatment and cures of all retinal diseases.”

Being Married to Brandon: “A Precious Exercise of Mindfulness”

When I met Brandon in September 2014, I thought that I was talking to the most interesting person I had ever met.

Not only was he the first American I had ever talked to, Brandon was also the opposite of the typical 20-something Italian: Not Catholic, vegetarian, mostly homeschooled, who preferred peanut butter over Nutella.

Besides the cultural diversities, I immediately liked his positive way of thinking, his unusual curiosity and his witty sense of humor.

Another particularity of Brandon was his blindness, which is actually the reason why we met.

I was giving a tour of my university, the University of Milano, Italy, for international students and I was asked to guide Brandon, who was there to study Italian for opera. Among a group of a hundred students, it would have been unlikely that I would have gotten to know any of them. Since Brandon was by my side, however, we had the chance to talk during the tour. And then we scheduled a date.

We were married two years later.

The last three years with Brandon have been quite a journey; we have been apart for several months, but we also managed to live in five countries and visit nine in total.

I have special memories for each of them, for example swimming in the crystal sea in Croatia for our honeymoon, walking through the Christmas markets in Vienna, visiting the Nobel Museum in Stockholm, making cheese on a Maltese farm, seeing “Matilda the Musical” in London. These are just a few of the unforgettable moments we have shared so far.

Currently, we are happily living on a houseboat on a little canal in the city of Groningen, Netherlands, where I am studying for my master’s in computational linguistics.

I consider living with a blind partner a precious exercise of mindfulness.

If I am alone, I walk in the street careful enough to be safe, but I am immersed in my thoughts, listening to music with my isolating headphones. When I am with Brandon, I acknowledge everything around me: people, buildings, colors, behaviors, my own emotions, and I feel that I am present in the moment.

At the same time, I acknowledge accessibility issues, which are a wide problem in south European countries. Sidewalks are too narrow, uneven or used for  parking by cars. Also, street lights without sound effects or unsafe driving behaviors are a cause of frustration for me. 

Previously I said that Brandon and I met because he was blind, which is not exactly the truth.

Brandon’s education, O&M (Orientation & Mobility) training, and his (now, also my,) incredible family have made him an independent, healthy and positive person, confident enough to decide to take a plane solo, cross the ocean and live abroad for one year to learn a new language.

Therefore, I am forever grateful to everyone who contributed to Brandon’s education. I am now happy to see Brandon helping his mum, Sonja, to build educational services that can have a significant impact on other young blind determined students.

Learn more about Brandon

Read Brandon’s mother’s story

Read Brandon’s father’s story

Atom Biggs: ‘The Greatest Adventure of My Life”

Raising a blind son has been one of the most exciting and inspiring experiences a dad can ever have. I’d like to tell you a little about our son, Brandon.

As a baby he had some vision, so his visual impairment wasn’t initially noticeable to us. About the time he started walking, it became clear something was unusual.

At first my wife and I thought he was clumsy or maybe a little absent-minded when he would collide with things. When we’d put food on the table in front of him, he’d feel around for it with his hands while his eyes looked off into space. When I’d try to look him in the eye, he’d look to the right or left of my face but couldn’t seem to make eye contact with me.

We were shocked when the ophthalmologist diagnosed Brandon with retinitis pigmentosa (RP). Now we were faced with new challenges.

Before we had children, my wife and I sat down and put together a plan on how we would raise them. Now we had to rethink everything. Our first step was to gather every resource available to us. We were quite surprised at how much lay within our reach. We read books, got him a free computer, visited the School for the Blind, and learned how to read Braille. We also organized his room with little baskets and cubbies, so he’d know where to find everything.

One of the most important stories I read was written by a blind man whose parents coddled him his whole life and were afraid to let him venture outside the safety of his home. I determined that was not going to be the story of our son. Instead, we looked for every opportunity for Brandon to experience the world around him.

We took our son to the zoo, on hikes, on field trips, exhibits, fairs and everything we thought might be experiential and educational. A blind person’s eyes are his fingers, so we always made it known that our son was blind and requested special permission for him to touch, even if the signs said, “no touching.”

We enrolled him in Junior 4H. I bought him a bicycle and tried to teach him how to ride; he persisted without my help and taught himself how to ride in our basement.

We met with his teachers and explained how blind children learn differently from sighted children and what accommodations Brandon would need in his classroom. We emphasized that he should be allowed to experience everything the other students experienced and not be left out of anything. They almost always listened to us and were grateful for our input.

We found that none of Brandon’s teachers had any experience with blind students, so we met with them frequently to make sure he didn’t get brushed aside. I think the most common excuse from teachers not to let Brandon participate was “we’re just concerned about his safety.” We’d explain that if they’d just let him tour the stage platform with his cane or have him buddy-up with a friend until he learned to walk the trail, he would be perfectly safe.

When our son was younger, we advocated for him, but as he got older we encouraged him to advocate for himself.

I think Brandon’s first major experience for self-advocacy was 7th-grade basketball. I told him I really didn’t think basketball was for him but that if he really wanted to play then he should arrange a meeting with the coach and the principal and voice his feelings. And so he did. He told them how much he wanted to play basketball, we were at the meeting and backed him up, and the coach was so impressed that he let Brandon on the team. He only played defense, but he played almost every game and the coach said Brandon was the most tenacious guard he’d ever had.

Brandon went on to advocate for audible traffic signals near our home, so he could safely cross the street and catch the bus. He touched models of cells in biology class, so he could feel what everyone else saw. Currently Brandon is advocating for the entire blind community to get them equal access to many online applications and software programs.

When Brandon was first diagnosed and we shared it with our friends, we got a lot of pity responses. I wasn’t sure what to say, but now I do.

Now when I tell people that my son is blind, and they say, “Oh, I’m so sorry!” I tell them there’s really nothing to be sorry about. It’s been the greatest adventure of my life and I’d have it no other way.

Learn more about Brandon

Read Brandon’s mother’s story

Read Brandon’s wife’s story

Sonja Biggs: “My Normal and His Normal Are Just Different”

Brandon Biggs is the chief financial officer with his mother Sonja in their company, he conducts accessibility research and he helps businesses make their software content more accessible to the visually impaired.

He is a 26-year-old self-taught programmer who is earning a master’s degree in Inclusive Design from OCAD University in Toronto while living on a houseboat in Groningen, Netherlands, with his Italian wife. Oh, and he’s an opera singer?

But he’s still Sonja Biggs’ little boy.

“Even with all the successes in his life and his own positive spirit toward blindness,” Sonja says, “I am still having a mom moment in my heart.”

Brandon has Leber congenital amaurosis with a mutation in the CRB1 gene. He was diagnosed as a toddler, and subsequently, Sonja became a Teacher of the Blind and Visually Impaired, and an Orientation and Mobility Specialist. She, Brandon, and her husband (and Brandon’s dad), Atom, run Sonja Biggs Educational Services, Inc. Sonja and Atom live in Gilroy, Calif., and they also have a 22-year-old son, Joshua, a talented programmer, gifted in science and graphic art.

Brandon’s interests include theater and opera. He performed in many musical theater productions and in a professional production of “La Bohème.”

“I was introduced to opera by a voice teacher when I was 18,” Brandon says. “And I fell in love with the mysteriousness and power of singing something so emotional and powerful in another language.”

His mother said she and Atom always encouraged both their sons to explore. When they were interested in marine life, they went to the San Juan Islands; when they were interested in volcanoes, they went to Mt. St. Helens. Bats? They checked out zoos and bat houses.

“We never told them no,” she recalls. “We just immersed them in whatever they were interested in and made it real for them.”

Sonja likens the inaccessibility of common tools for the visually impaired to the process of making chocolate chip cookies by adding the chips to the cookies after they’ve baked and cooled.

She said her “mom-heart” sometimes gets in the way of what she knows in her head. She still sometimes grieves that Brandon is blind.

“All of a sudden, something triggers it along the way – ‘Your son has no sight,’ or his frustration over inaccessibility in an application.”

Any parent of a child with disabilities goes through different stages of grief, she says. “The grief never seems to go away; it crops up at inopportune moments.”

A vision appointment triggered the grief this time. Brandon has no measurable vision, seeing light and shadows. He said he does not even notice his sight disappearing.

“I look at the things that I see every day that are beautiful,” Sonja says, “and he’s never seen them.”
Brandon is married and he’s never seen his wife. “He’s felt her, but he’s never seen her,” she adds. To which Brandon replies, ‘Yeah, mom, I can tell how beautiful someone is by touching their elbow.’

She knows her son’s blindness does not make him any less an accomplished human being. “He’s a beautiful young man. He’s wonderful, and to him it’s just normal and I just have to remember that,” she notes.

“My normal and his normal are just different.”

Learn more about Brandon

Read Brandon’s father’s story

Read Brandon’s wife’s story

Living with LCA: Brandon Biggs

Brandon Biggs was diagnosed with vision loss — and ultimately with Leber congenital amaurosis (LCA) — as a toddler. His genetic mutation is LCA-CRB1, which can cause LCA, retinitis pigmentosa (RP) and cone-rod dystrophy. CRB1 is the second highest incidence (10%-13%) of the nearly 30 different LCA genes that cause the disease.

His mother, Sonja Biggs, described in a telephone interview from her California home that despite all her now-26-year-old son’s accomplishments, she still has her “Mom moments,” triggering grief for her son’s vision loss.

What we discovered in exploring Brandon’s story for our series “Living with LCA” is that different members of his family have differing views of their journey with this rare inherited retinal disease. And so we invited the Biggs family to each share their story revolving around Brandon — mom Sonja, dad Atom, and wife Claudia.

But first, a little about Brandon himself: In pursuing his master’s degree in Inclusive Design, Brandon is writing his thesis exploring multimodal representations of data. He is focusing on creating auditory maps for blind people showing, for instance, where the hurricane is in Texas, or where the wildfires are in California. He is also working on making auditory graphs, so blind students won’t be required to always read tactile graphs.

“As technology is developing faster and faster,” Brandon says, “it is becoming more and more difficult to make sure technology is accessible to blind users, especially in the work environment.”
As a business owner, Brandon sees how difficult it is for a blind person to work in a small business. “I evaluate systems, such as for accounting, payroll, HR, timekeeping, document storage . . . and it is scary that for many crucial systems, there are few accessible solutions and no user-friendly solutions (for the blind).

“I just evaluated around 20 accounting systems and there were only two systems that were partly accessible; all the others were completely inaccessible. This means that blind people who work at all with accounting can only successfully work at companies that use those two systems, and only about half as efficiently as their sighted counterparts. This half-efficiency is because the experience of the blind user was not taken into consideration when the system was developed.”

Despite these issues, Brandon is actively working with companies to make their systems more accessible. He performs user-experience reviews for companies and writes evaluations of their products from a blind user’s perspective. He recently evaluated Intuit’s QuickBooks Online, and Intuit invited him in to see what they are working on.

“They are very slowly making changes that I recommended, but it is very slow. There are two guys on accessibility out of the 8,000 employees at Intuit, and that is considered to be a big accessibility team.”
All the more reason that Brandon is devoting his life to making sure blind people have quality access to technology.

Read Sonja’s story

Read Atom’s story

Read Claudia’s story

Making Connections: Nightstar Therapeutics

I was so happy to recently speak with Samantha Vieira, Senior Director of Program Management of Nightstar Therapeutics. Nightstar is a leading clinical-stage gene therapy company focused on developing and commercializing novel, one-time treatments for patients suffering from rare inherited retinal diseases that would otherwise progress to blindness.

Based in London, they also have a small office in Lexington, Mass., and have several projects focused on retinal disease in their pipeline.   

Their mission is to maintain and restore sight in patients with inherited retinal diseases and they shared information about four projects currently in their pipeline to treat these inherited retinal diseases: Choroideremia, X-linked Retinitis Pigmentosa (XLRP), Best Vitelliform Macular Dystrophy (MD) and Stargardt disease.  

Choroideremia a degenerative, X-linked genetic retinal disorder primarily affecting males is expected to enter stage 3 clinical trials in early 2018.  Very exciting news!  

Table showing preclinical to phase 3 for Choroideremia, X-linked Retinitis Pigmentosa (XLRP), Best Vitelliform Macular Dystrophy (MD) and Stargardt disease

Their website includes helpful overviews of the four diseases for which they have projects, and some great videos as well.  If you are interested in learning more about their research or upcoming clinical trials, there is also a sign up form for patients and families here.  

As always, I’m encouraged to meet a company that is dedicated to finding treatments for rare inherited retinal diseases, and I look forward to hearing more about their work in 2018!

Living with LCA: Life Through Vicky’s Eyes

Preschooler Vittoria shrieks with delight as she bounds down the cobblestone way, toward the big statue of the angel riding a chariot. Later we see the almost-4-year-old, nicknamed Vicky, tossing a coin in the azure waters of an elaborate fountain. Yet another image shows the little girl with glasses going bump, bump, bump, down the ancient marble steps on her bum.

This is all part of her parents’, Silvia and Enrico, effort to help their daughter see as much as she can while she still has vision.

The couple learned in April 2016 that their daughter had Leber congenital amaurosis (LCA). Vicky was 2½ and her mom was six months pregnant with little brother Filippo. That October, doctors genetically diagnosed Vicky with LCA-RDH12. Filippo carries the gene, but he is not affected by Leber congenital amaurosis.

On a recent trip to their native Italy from their home in the U.K., the family took in many sights, including Winged Victory, a majestic statue of the goddess Victoria riding a chariot pulled by four horses, atop the Altar of the Fatherland, and the stunningly ornate Trevi Fountain.

The images are from their Facebook video, “Come see with me . . . Rome!” or “Vieni con me a . . . Roma!” Vicky smiles and at times looks straight into the camera with her big brown eyes.

The video is among several “come-see-with-me” stories created by Silvia, and it represents one of the three goals the couple has for Vicky – to show her all they can while she still can see, before the effects of the Leber congenital amaurosis fully take hold.

Preschooler Vittoria “Vicky” Cerolini swimming with pink floaties and pink sunglasses.

The second goal is to support Vicky’s development despite her sight impairment. They look for the right kinds of social, educational and technological environments in which their daughter can thrive.  

“As parents, this is what you do,” Silvia said. “You invest all your effort in fighting for a better life for your kids.”

Their third goal is to do all they can to help find a cure. They have attended rare retinal disease symposiums, which led to an invitation to a family conference where they connected with researchers.

Silvia worked to find people around the globe – the U.K., Italy, Germany, South Africa, China, Australia, Canada and the U.S. – to partner with families and to raise money to fund research to correct the RDH12 gene.

They’ve connected with a group of U.S. families who are part of the RDH12 Fund for Sight. One of those families is Allison Galloway and her husband, Michael, who live in Colorado with their children, 6-year-old Logan and 4-year-old Zoe, both of whom have the RDH12 mutation. They also joined with people in Europe through Candle in the Dark.

Silvia and Enrico learned quickly that much needs to be done – and fast – to find treatments and cures. They’ve launched campaigns to support their near-future goal of funding the work of two researchers concentrating on RDH12.

Amid these efforts, Silvia said she has good days and bad days.

The family had a terrible scare recently when Vicky could see nothing for a few seconds as she rode on an escalator. “The thought of going suddenly black was really, really frightening,” Silvia said.

Then there was the time when their school of choice for Vicky made them feel as if they “shut their door in front of us,” saying they had no experience with sight loss and showing no willingness to learn or support the child.

Preschooler Vittoria “Vicky” Cerolini in a bright red jacket and eyeglasses, enjoying an outdoor cafe.

“It was really, really heartbreaking. This complete, cold, concrete reality,” Silvia recalled.  

They found another school, where Vicky is flourishing. To help educators understand Vicky’s level of sight, a visual-impairment teacher brought glasses simulating Vicky’s vision for the regular teacher to try. Silvia said the teacher’s jaw dropped when she learned she was experiencing how Vicky sees now.

Silvia said it is incredible what her daughter can accomplish. Vicky does everything all the other kids do. She climbs and plays, she’s vibrant and full of energy, and she loves pizza and hearing stories.

“Now she’s into the fairies and princesses. Every night we have to read three books and she always asks for more.”

Vicky, who will turn 4 on Christmas Eve, does not quite understand her sight loss. “We haven’t fully told her yet; she knows she wears glasses and they help her see better … I know the worst is yet to come.

“On the other side, we have committed now to do everything we can to help, including fundraising for an RDH12 cure. It’s actually liberating because it’s given us purpose and initiative in life.”

Silvia’s thoughts on the future:

“Maybe the message is cliché, but it’s really about hope and doing everything we can. I don’t want to give up. I feel a sense of urgency because I feel it might come a little too late.

“I want to say 50 years from now, I’ve done everything I can. In the worst-case scenario, it’s going to help future kids, and still it is going to show Vicky the importance of fighting for your hopes and beliefs.

“In the best-case scenario, imagine a cure is coming in time and we can help kids like Vicky see for longer! If I had even a little role in making this happen, imagine how fulfilling that would feel.”

Follow Vicky’s journey here.

RPE65 Trial Patient Tami Morehouse: “There’s So Much To See”

Tami Morehouse made research history in the Leber congenital amaurosis world, and in the nation, when at age 44 she became the oldest person in a successful LCA-RPE65 genetic therapy trial, and the first patient to receive the retinal therapy in both eyes.

It’s been a long road for Tami, now 53 and living in the Cleveland area with her husband, Mike.

With no LCA diagnosis until her 30s, Tami made her way through life doing whatever she had to do. Sink or swim, she developed good coping and resource skills.

“I did what I had to do,” she said. “I had enough vision to make it work.”

No one noticed her vision problems until she was about a year old, when nighttime came, and she couldn’t see well at all. Attention focused on the idea she had night blindness.

It is difficult to detect vision clarity in small children, but her mom and dad knew something wasn’t quite right. Doctors picked up on it when she was 5, during an exam in which she recalled she was scared to death, screaming and crying, because they were poking around her eyes.

They determined she had issues with the clarity and clearness of vision, known as visual acuity.

She just adapted

From kindergarten into her 20s, she adapted to her surroundings and to her level of vision. She had difficulty seeing the chalkboard, reading a paper or deciphering bulletin-board postings.

“All of my teachers knew I had a hard time. I needed more light than the average kid. I remember the hallways of my elementary school were very, very dim and I had a hard time making my way around.”

Something her father said a long time ago helped her along the way. Her dad, who always called her Timmer, said, “‘Timmer, we all have our troubles, and if you want me to take you anywhere or do anything, just ask me.’ They just treated me like the typical kid I was not.”

Studying social work at Edinboro University in Pennsylvania, Tami scheduled classes in familiar and comfortable places. She avoided night classes, and when she couldn’t, she’d figure out how to get there, walking in better lit areas.

She realized that all her life she was a tweener – someone poised in-between.

“I was a tweener for forever because I did most things like everyone else did and there was that part that everyone else didn’t know.”

Since she was young, some sort of eye doctor tracked her through the years, but it wasn’t until she got her first social-work job and her then-boyfriend, now-husband, Mike, said they needed to explore potential options.

Finally, a diagnosis

Specialists diagnosed her under the retinitis-pigmentosa umbrella and told her she would lose her vision. They said it was good she already had her education and she should consider having her children now. “It was a heartbreaker day,” Tami recalled.

As she aged, so did her retina and its ability to function well. She went from reading storybooks to her three children to reading Dr. Seuss alphabet books. Some days she saw only hazy grays and browns and needed the brightest lights to see.

“It was really very scary. At that point, before the trial, I had more poor-vision days, than OK-vision days. Sometimes I was scared to death to set my alarm. What if tomorrow is the day I wake up and my vision doesn’t get better? What if I wake up and I can’t see?”

But one Sunday morning, Tami was in the house, and her husband was out in the garage. He suddenly barreled in. He had heard on the radio that a study was being done on children with LCA in Philadelphia by Dr. Jean Bennett and Dr. Albert McGuire. Mike called Bennett the next day, and the wheels turned fast. Bennett opened the study at Children’s Hospital of Philadelphia to older patients and invited Tami to take part in the Spark Therapeutics trial that would change her life.

RPE65 treatment, an improvement

In March 2009, doctors injected her left eye with healthy cells to help her retina perform more efficiently and regenerate healthy cells.

Several days later, she and her husband were having dinner in Philadelphia and Tami reached over and picked up her drink.

‘Do you know that you just reached over and picked that up, you didn’t feel for it?,’ Mike asked. ‘You just looked out and saw it and picked it up!’

The injection in her right eye in November 2010 brought more brightness and clarity, to the point where she could see some eye-chart letters.

In spring at a baseball practice for one of her sons, she noticed colors more than ever before.

“It was color and light and movement and the kind of stuff people take for granted every day, which may seem small if you have it. Once you lose those little things and then get them back, you realize how important they were. For me it was huge.”

Tami also got to see her daughter taunting the opposing pitcher on her softball team, as she frequently danced up and down the third-base line to almost always steal home.

‘Don’t give up’

Her only wish was that the therapy had been an option sooner, because as the years passed, her retinas kept deteriorating.

“If this was a life-threatening illness,” she quipped, “I would have died a long time ago.”

She advises anyone with LCA-RPE65 to investigate whether the therapy is an option, saying, “Time is of the essence. Don’t give up. There were a lot of us in that trial and we all seem to have different levels of benefits from procedures, whether you have a little vision or a lot of vision. I just value my vision so much, I just think everybody needs to act and respect whatever level you have and just be glad to have it. There’s so much to see. It’s an incredible gift.”