Hope in Focus Attends Foundation Fighting Blindness Retinal Therapeutics Innovation Summit and Association for Research in Vision and Ophthalmology Annual Meeting

Hope in Focus Director of Outreach and Development Courtney Coates attended the Retinal Therapeutics Innovation Summit on May 2, 2025, hosted by the Foundation Fighting Blindness. This annual summit showcases over 25 presentations on advancing therapies, lessons learned, and progress on natural history studies and clinical trial endpoints.

Eric Hartman, Choroideremia Research Foundation with Courtney Coates

ARVO 2025 conference signage displayed at the annual meeting — ARVO 2025

Highlights for the LCA community included:
Twelve-month clinical trial data for LCA5 showing a clear safety profile, clinically meaningful improvement in vision, and durability.
Lessons learned from the Editas gene editing trial for CEP290
The Road Ahead for SepulBio’s Antisense Oligonucleotide Therapy for LCA10 CEP290

Additionally, several presentations provided updates on programs for IRDs in various treatment modalities. Clinical trial endpoints continue to be an important topic of discussion as the field works to develop outcomes that are easy to measure, reflect a clinically meaningful improvement in vision, and can be validated for regulators.

The summit was followed by the ARVO Annual Meeting, an essential resource for research updates, early pre-clinical research posters, and networking with the entire ecosystem of ophthalmic drug development. We continue to monitor early research for ultra-rare gene mutations, consistently engage with industry to incorporate the patient voice into clinical trials, and promote policy positions that will benefit the rare disease and LCA community.

For additional questions, please feel free to reach out to Courtney at courtney@hopeinfocus.org.

MEET ANTHONY FERRARO: Social Media Star, Professional Athlete, Musician, and Dad Living with LCA

Prepare to be inspired by Anthony Ferraro, the featured speaker at our major fundraising event, Dinner in the Dark, on November 2, 2024, at Foxwoods Resort Casino in Mashantucket, Connecticut. Here is a sneak peek into his incredible journey.

With supercharged energy and positivity, Anthony, born with Leber congenital amaurosis (LCA), shares what it’s like to be blind through motivational speaking and his various social media platforms. His wife, Kelly Anne, helps him plan out what he wants to portray, and then she shoots and edits the videos about their life that later appear on TikTok, Instagram, Facebook, and YouTube. Anthony’s social platforms have become popular as he shares what managing the world without vision is like. As an advocate for increased accessibility, whether he’s changing diapers, making smoothies, or skateboarding, he shares how he tackles a variety of activities without sight.

Anthony wearing a tie-dye tee-shirt holding up a peace sign and his guide cane. — Anthony Ferraro

Growing up in Spring Lake, New Jersey, the youngest of five children, Anthony was born with only 20/400 visual acuity (profound vision loss). He lost a chunk of vision in seventh grade and then again in his junior year of high school. Now in his late twenties, Anthony’s vision is decreasing daily, and he says, “The light is starting to go black.”

Against the odds, Anthony became a champion wrestler in high school and was the subject of an award-winning film, A Shot in the Dark, documenting his attempt to win a state wrestling championship in his senior year. In a previous interview with Hope in Focus, he said, “Wrestling has taught me a lot of things. It taught me hard work, that things don’t happen overnight, discipline, and how to deal with loss. It helped me prepare for life.”

Anthony aims to participate in the Los Angeles Paralympic Games in 2028 in Judo. The pivot from wrestling to Judo resulted from a concussion that ended his wrestling career in college. However, this event opened the door to pursuing Judo when the U.S. Paralympic team asked him to train for the team.

Open about his life, Anthony talks about struggling with depression. “When I was 19, I got so depressed that I checked myself into a mental health hospital. I learned a lot about mental health and not bottling things up. I got to work on myself and learn about what I was feeling and going through,” he said. “When I was 21 or 22, I started accepting the fact that I was blind and started using my cane and the resources that were around. That’s when my whole life changed. Soon after, I met Kelly Anne!”

An accomplished musician and skateboarder, Anthony is game to try almost anything. He and Kelly Anne have a baby girl, and some of his videos demonstrate how he cares for her. One example is his TikTok video “How I Find My Baby as a Blind Dad.” With unending zeal and courage, which Kelly Anne fully matches, Anthony propels himself into life.

Come meet Anthony and his family at Dinner in the Dark 2024 and hear him speak about his personal experiences and hopes for a possible treatment for LCA, tickets are available at hopeinfocus.org/dinner. Learn more about Anthony and connect with him on social media at asfvision.com.

Spring on the Road

May and June were busy travel months full of opportunities and learning for me as Director of Outreach and Development for Hope in Focus. Each year, I attend the Association for Research in Vision and Opthalmology (ARVO) Annual Meeting to hear the latest research updates for inherited retinal diseases (IRD). This conference brings together over 12,000 attendees and offers dozens of hours of presentations about therapy advances and provides a place for industry, advocacy, and the academic community to converge and connect on advancing research.

I then headed off to Sioux Falls, South Dakota, for my second year of training in the Professional Patient Advocates in the Life Sciences Certification Training Course (PPALs). The course provides two tracks, one for those with a patient advocacy role in industry, and the other for those involved in nonprofit patient advocacy organizations. It is a small group with limited class sizes that provides an in-depth education on the roles and responsibilities of a patient advocate. We have important discussions on how to work together and best serve our communities, and I bring back so much of that learning into this role every day.

Two presenters speak to an audience in a conference room, with a presentation slide displayed — Presentations at the Sanford Campus during PPALs

In June, I headed to Chicago with the Hope in Focus team to the 2024 VISIONS conference, which is held biennially and hosted by the Foundation Fighting Blindness. VISIONS brings together over 500 attendees from the inherited retinal disease community, many of whom are living with an IRD. We had a packed two days of listening to important updates and inspiring lectures, and our favorite was meeting families affected by Leber congenital amaurosis (LCA). Haydar, Gizem, and Toprak from this month’s lead story also attended and brought along another family from Turkey whose daughter has LCA1 GUCY2D. It was amazing to see them again! We also met a new family that has two daughters with LCA8 due to a mutation in their CRB1 gene.

I am so grateful for these opportunities to connect in person with all the facets of our community working to bring treatments to those living with inherited retinal disease.

Hope in Focus Joins the Denise D’Ascenzo Walk to Fight Rare Diseases

Hope in Focus, a nonprofit 501(c)3 rare disease advocacy organization based in Ledyard, Connecticut, is partnering for the first time with the Denise D’Ascenzo Foundation Walk to Fight Rare Diseases taking place on Saturday, April 27 at 10:00am at Quinnipiac University in Hamden, Connecticut. To contribute to, or walk with Hope in Focus, visit https://runsignup.com/hopeinfocus.

The 2-mile walk kicks off at 10:00 a.m. The registration fee to join the walk is $30. Participants can register the day of the event, or in advance online. Participants may also join to walk virtually and JB Sports will mail a shirt and bib to them.

As a participant in this event, Hope in Focus will receive 50 percent of the registration fees and 85 percent of all additional fundraising from donors to help support its mission of outreach to the Leber congenital amaurosis (LCA) and rare inherited retinal disease community.

“We’re excited to join the Denise D’Ascenzo Foundation in raising awareness and funds for rare diseases. As a small organization supporting a rare community, it is challenging to reach our community, supporters, and to host events of this magnitude. This walk makes it possible for all of us representing rare diseases in Connecticut to band together, making it easier and fun to raise awareness of rare disease issues in general, while raising funds for our individual causes,” said Hope in Focus Director of Outreach and Development Courtney Coates.

“Today 95 percent of all rare diseases still lack an FDA-approved treatment and only one in two have a research or rare disease group to support them. It’s a tough journey for organizations like Hope in Focus and we are grateful to the Denise D’Ascenzo Foundation and JB Sports for creating this opportunity for us to come together. We welcome anyone who can join us, virtually or in-person, or with a contribution of any amount,” said Coates.

The event was established by the Denise D’Ascenzo Foundation, dedicated to supporting advances in medicine and health, promoting responsibility in the media, and assisting those facing physical and mental challenges, while encouraging openness, courage and kindness in all endeavors.

Hope in Focus founder Laura Manfre and her son Luca will participate in the event. Because the zebra symbolizes rare diseases, Luca will wear a zebra suit as he walks. Manfre’s daughter Sofia was diagnosed with LCA as a child and was the motivation for founding Hope in Focus. Today, the organization serves a global community of families and individuals living with this rare blinding disease through community outreach, education, and funding to advance treatments. Website to register or donate: https://runsignup.com/hopeinfocus

HOPE IN ACTION: A Conversation with Laura Manfre

How did Hope in Focus begin?

In 2013, after our daughter, Sofia, was diagnosed with Leber congenital amaurosis (LCA) IQCB1/NPHP5, the Foundation for Retinal Research (FRR) asked if my husband and I would be willing to raise funds for treatments for her genetic mutation. The FRR was started in 1998 by David and Betsy Brint, whose son had LCA. Little was known then about the disease, and there wasn’t an LCA community when they began. The Brints faithfully stewarded the research and a handful of LCA families to grow that organization into a real community. So, we said yes to the FRR’s request and quickly raised about fifty thousand dollars, largely from our local community in southeastern Connecticut. This success blew us away, but there wasn’t an active research project for Sofia’s gene.

Realizing that so many people were willing to help us, we thought, why not raise funds for all LCA conditions so we can put the funds we raise into use sooner? A broader funding goal would allow us to designate monies for the most promising research and advance projects already in the pipeline. All boats float in a high tide, right? It was the right thing to do. Honestly, I also thought pushing the projects that are further along faster might be the most effective way to help advance the research related to Sofia’s gene. In 2014, we incorporated our 501(c)(3). Setting up the nonprofit made it easier to steward and thank donors. In Connecticut, three people are needed to create a nonprofit. So, my husband, Chuck, myself, and our good friend, Elisse Rosen, founded Sofia Sees Hope, later called Hope in Focus when we changed our name in 2021.

I think it was in early 2017 when David Brint became chair of the board of directors for the Foundation Fighting Blindness (FFB) that the FRR was rolled into the FFB. This change was significant for LCA research because of the FFB’s incredible influence and expertise in research. At the same time, because the FFB serves all forms of blindness, this change opened a gap for focused support for our LCA community. As a single, rare disease-focused organization, Hope in Focus was able to fit right in and fill that gap.

How did your mission/vision evolve?

LCA is a rare disease, which means we are a small community, but we have shared experiences that create a strong sense of unity. As I interacted increasingly with industry and researchers, I learned just how vital it was to have an empowered community equipped to engage with research and biotech to support the advancement of treatments. At the time, it was also apparent that we needed to focus on genetic testing. Genetic diagnosis is still an issue for our community, although we’ve come a long way, and I’m pleased that our work at Hope in Focus has made a real impact in this arena with our fundraising, outreach, and awareness campaigns. When individuals in our community have a confirmed genetic diagnosis and understand how treatments are developed and brought to market, they will also know why we must speak up, be involved in fundraising, and consider participating in patient registries, natural studies, and, hopefully, clinical trials.

When I think about how we’ve evolved, although our mission has stayed the same and is still very relevant, the biggest “a-ha” for me has been realizing that it’s not enough to raise money for research. Understanding the importance of advocacy and our voice in developing our treatments is critical. As a community, we can’t wait for these treatments to fall like manna from heaven. That might be how it works for a lucky few in the future, but that is not how this process works. We must actively participate in registries, natural history studies, patient advisory boards, and legislation. And the community with a voice and a level of representation will garner interest in its rare disease. The more aware and connected we are with the entire ecosystem involved in developing treatments, the greater the opportunity to influence these things.

What have you learned about the research community?

I was surprised by how meaningful it was to meet the people behind the science. As I spoke at events and met the community working on treatments, I stopped thinking about them as a monolith. These are dedicated, caring individuals working daily to benefit people they don’t know. When they have a chance to hear from folks living with LCA, these interactions help inform their work and motivate them to keep at it. We need them to keep working hard to find those treatments, and I think hearing our stories helps. As I experienced these interactions, I realized that to achieve our mission, we needed to facilitate engagement across the entire LCA ecosystem, including everyone impacted by the disease, biotech, regulatory agencies, investors, other nonprofits, and advocacy groups. It takes a lot of people to bring a treatment to market, and we all have a part to play.

Another thing I learned was that an informed LCA community needs to make sure that positive policy decisions are made regarding research and access to treatments. Unfortunately, many legislators don’t understand rare conditions, patient protections, and the actual cost of living with a life-long disease. We must educate our legislators and ensure they make sound, sensible policies.

What helps you see the progress made by Hope in Focus?

I was very fortunate to testify at the FDA AdComm (Advisory Committee) meeting in 2017 for the approval of LUXTURNA®. That opportunity was very emotional and a significant milestone not just for those living with LCA but for all rare diseases and gene therapy. For me, it also underscored the importance of our organization. Two years later, at the LCA Family Conference, we hosted in 2019 in Philadelphia, a woman from Washington State shared the story of her son. Before he turned three years old, he was genetically diagnosed with RPE65 and treated with LUXTURNA, still the only genetic treatment for LCA available on the market. Wow! The room went silent. We were talking about getting to this point, but I was surprised it was already happening to someone in the room.

Meanwhile, there were families in that room who were still unable to get a genetic diagnosis. Hearing about her son’s early diagnosis and treatment was incredible and gave us all hope. I want to hear more of these stories for all genetic variants of LCA. Another exciting development is the growth of our international community. At our LCA Family Conference in 2023, we had folks attend from all over the world, including a family living in China who told us about their database of 130 families with the CRB1 genetic mutation. Everyone was shocked that such a large group was identified for a single gene. LCA is a rare disease, making it hard to find and connect people, and here were 130 families with the same gene. Again, wow!

What do you hope for the future?

When we started Hope in Focus, it didn’t seem like anything was happening with research for LCA from my perspective as a parent. But under the surface, research was moving forward, and many dedicated folks in the LCA ecosystem were hard at work. Ten years later, we have a treatment on the market, LUXTURNA®, with four potential treatments currently in the clinic, several preparing for trials, and multiple gene-agnostic therapies in development. There is so much hope as the science is advancing. On the other hand, it has been SEVEN YEARS since I testified before the FDA, and LUXTURNA was approved for just one of our LCA genes, and there are still no new treatments on the market for other LCA variants. We need to keep the pressure on.

What do I hope for the future? This year, Hope in Focus is engaging in strategic planning to ensure that, as an organization, we are prepared and able to meet the changing needs of our LCA families and individuals as science, regulation, and industry evolve over the next 10+ years. When I started ten years ago, LCA research was a ripple, and now it feels more like a big wave. Hope in Focus needs more help to row the boat as that wave grows, including program funding, volunteer support, and dedicated staff. As we plan for the next ten years, we must define what this looks like and what it will take to get there. I also hope that Hope in Focus will participate in more Advisory Committee meetings for drug approvals. I’m disappointed I only got to testify at one of these events! How cool would it be if we could shift from a focus on supporting the advancement of treatments to market to helping members of our community as they evaluate whether or not they want to choose a treatment and then supporting them through that process? (Make sure to read Jack’s story.)

After creating Hope in Focus, have you asked yourself, what have I done?

Yes, I ask myself that question all of the time. At the very beginning, I was one person doing almost everything. Managing a startup nonprofit is exhausting. Today, we have a small but mighty team that includes one full-time employee, but I’m still volunteering at almost the same level as in those early years. Why? Because Hope in Focus is like tapioca; it just keeps growing. I’m very grateful for all of the volunteers and our incredible staff. We’ve connected with and helped so many people from whom I’ve learned so much. While growing Hope in Focus has been very demanding, it also fills my cup, and I feel so lucky to be a part of it.

What other thoughts would you like to share?

Hope in Focus has given me a sense of control over something I had no control over and felt utterly overwhelming. I think our work does the same for other parents and individuals living with this rare disease. I see how we are helping folks today, and I know that we’re helping to advance treatments that will help someone in the future. Hope drives action, and as we keep pushing forward, I’m excited to see what the next ten years bring for our community and Hope in Focus.

Hope in Focus Brings Voices of People Living with LCA Directly to the FDA

Allison Wolf, whose 9-year-old son Elliot lives with the encroaching blindness of Leber congenital amaurosis (LCA), spoke directly to staff from the country’s regulatory agency to help them understand the dire need for treatments for the rare inherited retinal disease.

“Elliot’s eyes are dying, Allison said. “They are dying, and we have nothing to help slow down the progressive loss of his eyesight,” she told the Foo d and Drug Administration (FDA).

“What would a timely and effective treatment mean? The whole world,” the mother of four said.

Allison and five others affected by LCA shared their stories with the FDA during a recent Patient Listening Session hosted by Hope in Focus.

We brought together the voices of people living with LCA, caregivers, and a clinician treating people with LCA to FDA staff members in a 90-minute online meeting Oct. 30, 2023. Simply put, we wanted the FDA to truly hear our community’s voices.

Our year-long planning resulted in a successful session to help regulators understand patient/caregiver experiences related to LCA. We requested the meeting to raise awareness with FDA staff about clinical differences of LCA genotypes, share patient experiences of LCA’s impact on the quality of their lives, given the scarcity of treatments, and communicate the extraordinary significance of vision stabilization for patients.

Raising awareness is key to advancing research

People in our community struggle daily to find ways to cope and try to live normal lives in a sighted world. Still, they never give up hope for new treatments and the possibility of a cure. As an advocacy organization, one of our biggest challenges is creating awareness of LCA.

Courtney Coates, our Director of Outreach and Development, introduced the Hope in Focus mission and said LCA affects about one in 33,000 people and presents early in life, resulting in total blindness. Twenty-seven genes have been identified to cause LCA, with treatment available for one form, while a handful of others are in clinical trials.

Co-founder and Board Chair Laura Manfre said as the parent and caregiver of their daughter Sofia living with LCA, raising awareness, searching out new treatments, and providing support to the growing LCA community became the mission of Hope in Focus.

Laura said she wanted to underscore the goals of treatment, in particular around the stabilization of vision for Sofia and others with LCA.

“While vision restoration would be fantastic, having access to a treatment that stabilizes her vision would be huge for her. Not having to constantly change her accommodations for her changing vision is a huge win, and not having to fall asleep every night worried that the next morning might be the one she wakes up without any vision at all. That would be life changing.”

Sharing a chart showing seven current clinical trials, she explained two are not recruiting at this time, two have been discontinued, and all seven represented only four LCA genetic variations.

“So, there is still a lot of work to be done to advance potential treatments.”

Caregivers and people living with LCA tell their stories

Six people from our community shared their experiences.

Elliot Wolf wearing red glasses and a red shirt — Elliot Wolf

Allison Wolf, who is 45 and from North Dakota, said doctors diagnosed her son Elliot with LCA13 (RDH12) when he was 6, and as he gets older, her challenges also grow.

“Nobody knows how to raise a visually impaired child. I must be taught. I must teach him the sighted world, while also dealing with the challenge of teaching him the non-sighted world,” she told agency staff. “My heart hurts when I hear Elliot say, ‘I just want to be done with all this work and I just want to play.’”

***

Mohamed Farid of Illinois is a 36-year-old entrepreneur, diagnosed with LCA5 at 40 days old. His mother quit her job to take care of him, and they moved back to Egypt. Preserving his sight concerns him the most, and his greatest fear is the risk of injury.

“For new treatments,” Mohamed told the FDA, “the first thing I would look for is something to stop any degradation – I sense that my functional vision has degraded slightly over time and would imagine there is something going on with my retina, but do not know.

I have been told by doctors that I will lose my sight in the next two to three years ever since I was 5, and that lack of a prognosis is a killer. Following conservation, I care most about night blindness, then field of vision. …

“I was lucky to have a huge support network of people, who went out of their way and had a lot of energy and stress tolerance. This does not mean that life was easy or that I would not want a cure, even a partial cure would be life changing. It does mean that the cost of LCA is high, but barely bearable.”

***

Joy Goodwine, 40, of New York is the mother of 7-year-old Jordynn, diagnosed at age 1 with LCA2 (RPE65), and received a new diagnosis last year of LCA1 (GUCY2D). She always wanted Jordynn to have some sense of normalcy.

Jordynn Erwin in pink dress with a hot pink background — Jordynn Erwin

“I’ve always asked family and friends to treat her like any other child,” Joy said. “I do not want people to feel sorry for her and I do not want her to have any special treatment because of her

visual impairment. Jordynn is being raised to know that she is capable of doing anything she wants with limitations…

“What I fear most as a parent with a child living with LCA is I worry that her kindness and vulnerability will lead to unwanted interactions when she gets old enough to go off on her own, or her eyes get worse if treatment is not available.”

***

Linda Wirth is 76 and lives in Colorado. Her vision loss remained a mystery until her diagnosis of LCA10 (CEP290) at age 68. As a child, she learned about the world around her by touching things and holding them.

“My family often told me, ‘Don’t touch that! You will break it. Don’t act strange. People will stare at you.’ So, I began to fake it, pretending I understood things which I did not in order to get along and not appear any different.”

One doctor early on told her: “You are blind! What do you want me to tell you? If you are looking for a miracle, there is none.”

A retired clinical social worker, Linda’s been angrily dismissed from jury duty and job interviews, ignored by waitstaff, and questioned whether she deserved to be a parent.

“Just as many differently abled folks, I have encountered individuals with various stereotypes and prejudices.”

***

DJ Broadbin of Connecticut is a 34-year-old mother and caregiver to 5-year-old Jace, who was diagnosed with LCA4 (AIPL1) at 10 months old. Through a Hope in Focus connection, she succeeded in getting compassionate use treatment in the UK for Jace. The treatment, which applied only to his specific gene mutation, has restored some of his sight in one eye.

“No matter what happens with his vision or developing new treatments,” DJ told the FDA, “I remain steadfast in having the same goal I had for Jace since the very second I found out I was going to be a mom – I just want him to be happy. And I will continue to fight for his inclusion in this world to make sure that he always is.”

She often finds herself exhausted by the constant stress of being a caregiver.

“I also wish sometimes,” DJ said as her voice broke, “I just got to be a mom. Not a medical coordinator, an occupational therapist, and a Teacher of the Visually Impaired all rolled up into one. Just mom.

“But then I think about all the things that Jace’s diagnosis has given me personally: Clarity. Patience. Compassion and empathy in a way that I myself was too blind to see in those earlier days.”

***

Mirielle St. Arnaud is 16 and lives in Illinois. She was diagnosed with LCA (IQCB1/NPHP5) at 6 months old. Her early diagnosis was possible because her older brother had been diagnosed with LCA.

Mirielle worries about her safety and struggles to fit in with her classmates because she misses social cues. She hopes her fairly stable vision will not get worse.

She shared a wish list with the FDA that included personal independence, the opportunity to participate in sports, and more certainty about achieving the career of her choice (she dreams of being a lawyer).

“Some of the more significant challenges I face because of visual impairment relate to jobs and getting hired. It takes longer for me to learn certain skills at a job. I have to rely on others when out in public, especially when traveling. I also struggle to find accommodations for my impairment. It seems that other people know my needs better than I do.”

***

Our representative clinician, Rachel M. Huckfeldt, MD, PhD, of Massachusetts Eye & Ear, spoke about the difficulties of diagnosing and managing LCA and the small number of clinical trials. Identifying the responsible genes can be difficult, and the small number of patients severely limits opportunities for clinical trials.

Questions asked by FDA staff members focused on a few common themes: Have you participated in clinical trials? What are the key impediments to clinical trial participation? What are your deal-breakers to participation? What would a successful treatment look like to you?

One result certainly not on the agenda was the deep emotional impact of the stories shared by those living with LCA and caregivers. The session manifested itself as a profoundly moving event.

A full summary of the FDA Patient Listening Session will be available on our website.

Hope in Focus Grateful for 2023 Dinner in the Dark Success

So much more than a typical fundraiser, the 8th Hope in Focus Dinner in the Dark we advertised as “a unique sensory experience,” gave guests just that and much more Saturday, Oct. 14, 2023, at the Mystic Marriott Hotel & Spa in Groton, Connecticut.

Dinner in the Dark afforded the opportunity for guests to experience their dinner in a different way – wearing blindfolds. For a short time it offers a small taste of what it might be like for someone dealing with a rare retinal disease. This key fundraising event supports our mission of “Seeing a cure for blindness,” as we advocate for people living with Leber congenital amaurosis (LCA) and other rare inherited retinal diseases (IRDs).

Attendees sitting at table with their blindfolds on

Hope in Focus counted 273 attendees this year, with the event raising more than $200,000, a record amount for our annual fundraiser.

The evening is about bringing people together to connect with the mission of Hope in Focus, as we work to transform the lives of those living with blindness caused by LCA and raise funds to support research treatments.

Our hope for those treatments is becoming a reality through the half-million dollars we have raised throughout the years with the vital support from contributors and from people like those attending the dinner.

These essential dollars fund myriad retinal research studies here and abroad, and they ensure access to free genetic testing, a critical step toward finding retinal-disease treatments.

“Even as science advances, we still have only one treatment on the market today for just one form of LCA,” said Laura Manfre, Hope in Focus Co-founder and Board Chair. “We need to do better. We need to continue advancing the science, but also move the science from the lab and the clinic to the community waiting for treatments.

“It is with deep gratitude,” she said, “that we thank all the people who came out to support our efforts to improve the lives of people living with rare retinal disease and help advance research for treatments. We could not do this without you, and we are forever grateful for your contributions toward our mission.”

Courtney Coates, Director of Outreach and Development, shared with the guests Hope in Focus’ work in delivering updates and research progress in our newsletter, across social, in our Let’s Chat About webinar series, and at our 3rd LCA Family Conference this summer, when we welcomed LCA families from across the country, as well as Canada, Mexico, China, and Turkey. She also shared news about our then-upcoming hosting of an LCA Patient Listening Session with the Food and Drug Administration.

Our zebra, Luca Priebe, with Courtney Coates

“Tonight for a brief time, you will get a taste of what it might be like to live with vision loss, including some of the social challenges that accompany it,” Courtney said. “We hope this will move you to join our journey, as we continue our work to fund research to treat blindness caused by LCA and expand our advocacy activities.”

Courtney, our sole full-time Hope in Focus staff member, thanked each of our sponsors, and there were many. Click here for a complete list of our 2023 Dinner in the Dark sponsors.

She also thanked our Dinner in the Dark Committee members – without whom the event would not have been possible – for volunteering their countless hours behind the scenes.

Laura described for newcomers the origin of Hope in Focus and its mission. She founded the organization in 2014 with her husband, Charles Priebe, and close friend Elisse Rosen, having been brought into the rare retinal disease community by her daughter Sofia, who was diagnosed with LCA at age 2.

Heading into its 10^th year, Hope in Focus has grown into a global patient advocacy organization, supporting the LCA community and researchers seeking cures and therapies for rare inherited retinal diseases.

Laura introduced the evening’s key presenter, Dr. Daniel Chung, as a “rock star.” Dr. Chung is Chief Medical Officer for SparingVision, an ocular genomic medicine company. His work focuses on therapies to combat blinding diseases. He made a point of praising the courage of participants in clinical trials. These patients offer themselves to science, not knowing what the result may be, or if there will be any result at all.

“The real rock stars,” Dr. Chung said, “are those who say, ‘I’m going to be part of a clinical trial.’”

The final speaker before dinner was probably the most instructive. Sofia Priebe spoke via a video presentation to provide tips for a successful Dinner in the Dark experience.

Sofia advised on such techniques as determining which side of your knife is sharp, using utensils to gently explore the food on your plate, and remembering to always identify yourself and the person you’re speaking to in conversation at the table.

Now a junior at college, she spoke with the poise and grace of someone beyond her years. In her final tip, perhaps the most important, she advised: “Food to face, not face to food.”

Roger Nicholson, Executive Chef of the Mystic Marriott Hotel & Spa, prepared the dinner presented in four courses. To see the menu, please go to: https://old.hopeinfocus.org/whats-for-dinner/

Each course tasted delicious, and Sofia’s advice was put to good use as well, with one participant heard to exclaim, “It’s a square plate! Use the grid system!”

Image of two attendees holding up wine glasses.

Attendee Karen Clarke of Guilford said navigating a meal while blindfolded is challenging and humbling.

“The experience gives you a small glimpse into the challenges so many deal with every day. It’s a great motivation for us to help with research – and be thankful for our own sight when the blindfold comes off.”

Rosalie and John Maxham of Stonington attending Dinner in the Dark for the first time.

“We came away appreciating this organization devoted to helping find a cure for a disease we never knew existed, and we were very happy to lend our support to this zebra.”

The live auction, requiring no blindfolds, followed dinner, with Master of Ceremonies Mike O’Farrell auctioning up for bid items and experiences, a list of which can be found at: www.hopeinfocus.org/get-involved/dinner-in-the-dark/live-auction

After sweets for dessert, guests headed for the dancefloor for music by The Cartells.

We at Hope in Focus thank all the participants and faithful sponsors of Dinner in the Dark and look forward to an exciting event in 2024.

2023 LCA Family Conference: Developing LCA Treatments

Luxturna®, the only approved treatment for one of 27 identified forms of Leber congenital amaurosis (LCA), cost $500 million to develop and took more than 12 years to come to market.

With such an enormous investment in time and money, it would make sense to use that same platform for developing new treatments to improve vision or halt progression of blindness.

But that’s just not how it works, said Chad R. Jackson, PhD, Senior Director of the Foundation Fighting Blindness Preclinical Transitional Acceleration Research Program.

Every individual clinical study must complete a set of rigorous requirements – which cost time and money – to receive regulatory approval from the Food and Drug Administration (FDA).

The Foundation’s translational research program steps up the pace of preclinical studies toward clinical studies involving humans through proactive management and industry-level advice to drive research leading to prevention, treatment, and vision restoration for degenerative retinal diseases.

A Hope in Focus partner, the Foundation has raised nearly $900 million since its founding in 1971 and funds more than 90 programs worldwide, including no-cost genetic testing and the My Retina Tracker® patient registry. The Foundation also launched a Retinal Degeneration Fund (RD Fund) to help accelerate life-changing outcomes for people with retinal degenerations through direct mission-related investments in therapeutic companies.

Chad and other presenters shared information about drug development, gene therapies, and non-gene therapies during two sessions of the Hope in Focus 2023 LCA Family Conference* in Indianapolis this summer.

More than 100 people attended the forum to hear the latest in LCA research and to network with families living with LCA and other rare inherited retinal diseases (IRDs).

Bringing a drug from inception to market takes 10 to 15 years, Chad said, and costs tens and tens of millions of dollars. He said bringing a developing drug from preclinical studies to the FDA requires three steps:

Identify your target to know what you’re seeking to do; conduct invitro studies by expressing patient cells in a lab or as it’s referred to, retinas in a dish; and perform animal-model studies, which save time and money to determine whether emerging therapies are safe and perhaps ready to move toward clinical trials using humans.

Gene-Agnostic Therapies

Chad moderated a panel discussion about research moving beyond single-gene correction to gene-independent therapies to help delay progression of blindness or restore levels of vision.

Kiora Pharmaceuticals’ Chief Development Officer Eric J. Daniels, MD, MBA, discussed the company’s first-in-human study for a non-gene therapy treatment for retinitis pigmentosa (RP), a group of inherited eye diseases that cause progressive vision loss. It is characterized by the gradual death of light-sensitive photoreceptor cells in the retina, known as rods and cones, responsible for converting light into neutral signals sent to the brain.

Dr. Daniels said his company’s technology shifts retinal ganglion cells from their off state, in which they respond to decreases in light. Kiora has discovered a way to shift these cells into their on state in the presence of light through channeled photoswitch molecules.

According to Kiora, the mutation-agnostic treatment has the potential for use in any of the various genetic forms of RP, as well as other retinal degenerative diseases; its intravitreal injection allows for more consistent and tolerable administration, and the small molecule can be manufactured and provided to patients at a much lower expense than the $450,000 per eye cost of Luxturna.

Huma Qamar, MD, MPH, CMI, the head of Clinical Development and Medical Affairs for Ocugen, discussed the biotech’s work on treatments for LCA10 (CEP290), RP, and other IRDs. One of their clinical trials involves a novel gene therapy, OCU400, consisting of a functional copy of a nuclear hormone receptor gene delivered to target retinal cells using an adeno-associated viral (AAV) vector. Expression of this receptor within the retina may potentially help stabilize cells and rescue photoreceptor degeneration, Dr. Qamar said.

Ocugen demonstrated the potential of a novel modifier gene therapy to elicit broad-spectrum benefits in early and intermediate stages of RP and LCA, based on animal studies, showing the potential for a mutation-agnostic treatment.

Since the conference, Ocugen reported an update on its Phase 1/2 clinical trial for OCU400 for 12 patients who had follow-ups from six to 12 months after a subretinal injection in one eye. The developing drug had a favorable safety profile in this trial phase. Also eight of the 12 patients showed stabilization or improvement in the visual function measures of best corrected visual acuity, low-luminance visual activity, and navigating a multi-luminance mobility test.

The trial is currently enrolling patients, including pediatric patients with LCA10.

Gene Therapies

In the conference’s final session, moderated by Foundation Vice President of Science Communications Ben Shaberman, four panelists discussed their work on LCA gene therapies.

Shannon Boye, PhD, Co-Founder, Director, and Acting Chief Science Officer of Atsena Therapeutics, said the road to drug development is long and bumpy. She helped design early studies on LCA1 (GUCY2D) in 2001.

With the process going so slowly, Shannon reached out to then-Foundation CEO Ben Yerxa, who helped push her and her husband into starting their own company.

In 2019 doctors dosed the first patient. Earlier this year, in a Phase 1/2 clinical trial, their LCA1 gene therapy, known as ATSN-101, showed clinically meaningful improvements in vision at the highest dose with no drug-related serious adverse events at six months after treatment.

At Opus Genetics, Chief Scientific Officer Ash Jayagopal, PhD, discussed the biotech’s progress for various programs in, or advancing toward, early-stage clinical trials.

Opus, headed by CEO Ben Yerxa, PhD, is the first spin-out company internally conceived and launched by the Foundation’s RD Fund. The Fund’s purpose is to accelerate advancing research into gene therapy for several forms of LCA and other retinal degenerative diseases.

Opus’ most advanced program for LCA5 (lebercilin), OPGx-LCA5, is dosing patients, while two other LCA programs involving LCA13 (RDH12) and LCA9 (NMNAT1) are in preclinical development.

Thomas Mendel, MD, PhD, talked about his research at The Ohio State University, where he is Assistant Professor of Ophthalmology and Vitreoretinal Surgery at the university’s Havener Eye Institute, Department of Ophthalmology & Visual Sciences. He is building a research program to develop and implement gene therapies for Professor of Ophthalmology and Vitreoretinal patients with inherited retinal disease.

The goal is to build a translational lab with a team and accelerate development and clinical trials with gene-based treatments.

Bikash R. Pattnaik, PhD, told the audience about his work at the University of Wisconsin-Madison (UWM), where he is a professor and Clinical Director for Electrophysiology in the departments of Pediatrics, Ophthalmology, and Visual Sciences.

This summer, the National Institutes of Health awarded UWM a $29 million grant to develop gene-editing therapies for two inherited retinal conditions: LCA16 (KCNJ13) and Best disease. Bikash said the LCA16 treatment in development could be in clinical trials next year.

*Please go to our Hope in Focus website to see our previous three stories detailing sessions from our 2023 LCA Family Conference. Click here to see a video about the conference.

2023 LCA Family Conference: Living with LCA–Panelists with varied vision share life successes and challenges

Tami Morehouse is grateful for improved vision after undergoing groundbreaking gene therapy treatment at age 44 for LCA2 RPE65, but at times she still is sad and disappointed at the difficulties presented to her as a person with some functional vision, but who cannot see well.

Mohamed Farid found life living with LCA5 more challenging as a child than as an adult, especially before screen readers and other assistive technology. The young professional also remembers growing up and his grandmother spending a lot of time convincing him he couldn’t be a pilot.

Mirielle St. Arnaud, a junior in high school living with LCA caused by a mutation in her IQCB1/NPHP5 gene, tries to get involved with clubs and activities to ward off struggles with socializing. She learned to adapt to change and said her experiences with vision challenges have been good.

Tami, Mohamed, and Mirielle talked about their day-to-day lives, challenges, and feelings at our 2023 LCA Family Conference* in Indianapolis in late June. They took part in a panel discussion called Living with LCA, moderated by Beth Borysewicz, an educational consultant with the Connecticut Department of Aging and Disability Services with Bureau of Education Services for the Blind.

These three people – an LCA research pioneer, a young professional, and a high school student – help illustrate the manifestation of research advances and assistive technology in the last decade or so.

Here is what they shared with more than 100 people convened for the third Hope in Focus LCA Family Conference.

***

Tami Morehouse

Tami, 59 and from the Cleveland area, is thankful to see with more brightness following her participation in a pioneering clinical trial for what now is known as LUXTURNA®, the only federally approved treatment for one of the 27 identified forms of LCA – LCA2 RPE65.

She gained some vision in 2009 and 2010, when she received the treatment under development by Spark Therapeutics.

“My whole world was a lot brighter,” she said.

She could see a cup on the table, gorgeous sunsets, the lush green of spring, and details in the faces of her three children. It also improved her parenting skills.

“Mom can see things now,” she joked. “It’s bittersweet in our world.”

She also feels she lives in a kind of limbo between seeing and not seeing. She wished and still wishes the public would be more receptive to her being between having sight and not having sight, rather than completely blind.

Tami’s world has widened, and she enjoys much happiness since receiving the gene therapy. She is a Hope in Focus Ambassador, working with our Family Connections program, reaching out to people living with LCA, offering them comfort and kindness. The research pioneer works as an information and referral specialist for 211 in Ohio.

People in the LCA community, like others dealing with a rare disease, experience anxiety, depression, and social isolation.

Tami opened up at the conference, sharing struggles to maintain mental wellness.

She experienced a lot of awkward moments and has worked at becoming comfortable with who she is as a blind person.

“There are so many times when I’m very sad and disappointed about my limitations. There are a lot of barriers in the way and that’s hard to take.”

She misses experiences she could have had with her children and husband and parents.

“Those are just facts of life. Those are my facts, but I think many others go through the same.

“Sometimes we just feel the burn.”

***

Mohamed Farid

Mohamed Farid navigates life with LCA deftly, now that he is an adult.

“It’s harder growing up. It’s easier when you’re older.”

Life became easier with innovative technology, such as screen readers and other optical character-recognition technology that extracts and converts data into a machine-readable form.

“It’s all about assistive technology,” he said.

The 36-year-old founded MKF Continuity, a middle-market investment firm in Chicago. He earned an MBA from Harvard Business School.

There was a time when he was running away from his blindness.

“Now, I’m just ‘whatever’. I need to be independent. It’s important for my dignity. I don’t want to be relying on people.

“Every once in a while, I think the world is unfair,” he said, but over time he’s developed self-acceptance and is at peace with his blindness.

He compared his moving through life now not even thinking about his blindness to his perception of his vision as a child.

“My grandma had to spend a lot of time convincing me I could not be a pilot.”

In contrast, as an adult at his workplace, people think he can create slide presentations.

Mohamed said his blindness has made him strong, describing himself as “alert, scrappy, and resilient.”

***

Mirielle St. Arnaud

Mirielle St. Arnaud, a 16-year-old from the Chicago area, said she’s dealt with people who assume she’s not a capable person.

“We’re probably more resourceful than you think,” she said.

Mirielle is a junior in high school, where she runs on the cross-country team with a guide and is a captain of the Congressional Debate team.

She learned to advocate for herself and set boundaries for others.

Mirielle worked at her difficulties with socialization at school by getting involved in the blind and sighted communities, whether through summer camps or extra-curricular activities, and by meeting as many people as she can.

“At some point, you’ll find your people who will understand you.”

She characterizes her ability to see as “Swiss-cheese vision.”

At school, she collaborates with an advocate throughout the year, using an Independent Education Plan as a guide.

Mirielle said vision specialists collaborating with her schools have been especially helpful along the way. She’s worked with Teachers of students with Visual Impairments, who are educators with expertise with the visually impaired, and Orientation and Mobility specialists, who teach safe and effective navigation through environments.

“I’ve had pretty good experiences,” she said.

***

Wrapping up the session, panelist Mohamed Farid left the audience with this message:

“Our journey can be bumpy. Don’t ever give up hope.”

*Please go to our Hope in Focus website to see three more stories detailing sessions from our 2023 LCA Family Conference. Click here to see a video about the conference.

2023 LCA Family Conference: Advocating for Treatments

Here’s what you need to know about advocating for advanced treatments for Leber congenital amaurosis: Get genetically tested, get legislatively connected, and get enrolled in a patient registry.

The Hope in Focus 2023 LCA Family Conference* panel on Advocating for Treatments repeatedly returned to this action trio to move treatments forward for this rare inherited retinal disease (IRD) affecting about 8,000 people in the United States and 160,000 worldwide.

Jonathan Stokes, Senior Director of Patient-Centered Outcomes Research with the biopharmaceutical company AbbVie, moderated the five-member panel at the June 23-24, 2023, LCA family-centered conference in Indianapolis. This session marked the first of four for more than 100 people gathered at the conference.

Genetic Testing is Critical

Emily Place, Senior Genetic Counselor and Manager of Genetics and Genetic Counseling at Massachusetts Eye and Ear, said the first place to start is to get genetically tested, a process becoming easier with time. An open-access genetic testing program managed by the Foundation Fighting Blindness creates a smoother journey to finding the specific gene causing a mutation resulting in LCA or other IRDs.

Your new confirmed genetic diagnosis opens the door to advocacy groups and researchers working to develop treatments and cures for blindness.

The National Society of Genetic Counselors (NSGC) offers in-depth genetic testing information, including a search tool to help find a certified genetic counselor in your area.

Emily said listening to the voice of the patient is the way to move research forward. And, in the rare inherited retinal disease world, that begins with genetic testing and genetic counseling.

A genetic test provides one of three results: Positive, negative, or inconclusive.

A positive result means the test found mutations in a specific gene that can identify the cause of vision impairment.

A negative result means the test could not identify a specific genetic cause for the disease, but it does not rule out a retinal disease diagnosis.

An inconclusive result means the test didn’t find helpful information about the gene in question. Because it can be difficult to distinguish between a disease-causing gene and a harmless gene variation, follow-up testing or periodic review of the gene over time might be necessary.

Emily said it’s important to stay connected with your genetic counselor for support along the way, especially with an inclusive result. As the knowledge base of genetic data grows, future tests could garner more definitive results.

Genetic testing information can be found at Hope in Focus, which has contributed more than $200,000 to help support the Foundation’s free access to genetic testing.

You’ll find information on the Foundation’s website under the Genetic Testing section, where you can download their detailed resource booklet, “Genetic Testing for Retinal Degenerative diseases: Information and Resources for Affected Individuals, Families and Health Care Providers.”

Empower U.S. Senators and Representatives to Advocate for LCA

Our panelist from the U.S. Food and Drug Administration agreed with importance of genetic testing. Wiley A. Chambers, MD, Supervisory Medical Officers of the Office of New Drugs for FDA’s Center for Drug Evaluation and Research, also advised bringing information to Congress for action. He and his eight-member team have signed off on 200 approvals of new drugs.

“The best place you can make an important impact is to talk with your representatives and senators,” Dr. Chambers said.

A good place to start is with their staff of congressional aides, who can synthesize and relay relevant information to lawmakers.

He noted a key change at the FDA in the 1960s that informs the current drug approval process.

In October 1962, Congress passed the Kefauver-Harris Drug Amendments to the Federal Food, Drug & Cosmetic Act, which contains regulatory requirements defining the FDA’s level of control over these products. Before marketing a drug, firms still had to prove safety; now they also need to provide substantial evidence of effectiveness for the product’s intended use. This requires adequate and well-controlled studies, and, before marketing, the FDA needs to specifically approve a marketing application, according to the FDA.

Dr. Chambers emphasized that any clinical trial needs to show what the product is going to do to benefit a particular individual. He cited one of the endpoints or outcomes – early in Spark Therapeutics‘ gene therapy trial – that enlarged the size of the pupil.

“So what?” he said. “That’s not an endpoint that is meaningful to any individual.”

An endpoint of value would improve vision, slow, or stop vision loss, and help with daily activities.

Panelist Jacose Bell, Senior Patient Advocacy Lead at Spark Therapeutics, said the clinical trial at issue needed light as a factor as an endpoint.

Spark redesigned its trial to include a relevant endpoint instrumental in demonstrating how voretigene neparvovec could improve vision in LCA2 RPE65 patients, leading to the approval of LUXTURNA®. The endpoint – a multi-luminance mobility test (MLMT) – measured functional vision or how a person navigates in a vision-related activity across a range of light levels in daily living.

Engage state lawmakers to advocate for LCA advances

Reaching out to congressional aides is important, and even before taking that action, people can inform and raise awareness of the needs of the LCA and IRD community on local and state levels. This means calling, writing, or emailing your governor and state representatives and senators. It means acting and being participatory.

The National Organization for Rare Disorders (NORD) runs a state-by-state Rare Action Network that works to establish Rare Disease Advisory Boards or RDACs. Connecticut, headquarters for Hope in Focus, recently became the 24th state establishing a council specifically to address the complexities of living with a rare disease (including LCA and other IRDs), caring for someone with a rare disease, gaining access to treatment, and getting better insurance coverage.

The RDAC gives patients, families, caregivers, healthcare providers, advocates, researchers, and other stakeholders the opportunity to make formal recommendations to state agencies and the legislature to improve the lives of people living with rare disease and their caregivers.

Click here to find out if your state has an RDAC or is developing one and you would like to help make it a reality.

Lighthouse Guild also provides medical assistance and social support to people who are blind or visually impaired so they can fulfill their goals and live with independence.

EveryLife is another resource providing help for people living with rare diseases, including LCA and other IRDs.

Results of surveys filled out by people living with LCA and other IRDs also help define areas in need of advocacy, resources, and research.

LCA and IRD Patient Registry – My Retina Tracker®

Panel member Laura Manfre, Board Chair and Co-Founder of Hope in Focus, centered on patient registries as a driving factor in advancing treatment.

“MRT, MRT, MRT,” she said as a mantra to the group. MRT – My Retina Tracker® – is an online, confidential registry of people with rare retinal degeneration, including those with LCA or other IRDs.

Foundation Fighting Blindness launched and manages the registry with the purpose of enabling people with inherited retinal degenerative disease, their doctors, and researchers to actively collaborate in the research process.

To optimize the power of MRT, registrants should seek a genetic diagnosis, which the registry facilitates by making registrants eligible for free genetic testing.

Patients share information about the history, progression, and personal impact of their disease, they authorize their doctors to add their diagnosis and clinical information to their profile, and they take part in research studies when identified and contacted through MRT by researchers as potentially good subject for their studies.

The larger and more detailed the registry, the more beneficial the data becomes to doctors and scientists in helping advance research.

Another specific way to bring research to the labs and new treatments to market is through patient advisory councils established by biotechnology companies.

Panelist Jill Dolgin, PharmD, Executive Director of Global Patient Advocacy & Scientific Management for Beacon Therapeutics, said she even brings people into the lab to explain in plain language the complexities of clinical trials. This brings a broader understanding and familiarity to people who potentially might participate in trial research, including natural history studies of patients.

“You’re the experts,” Jill told her audience. “We’re not.”

Natural history studies identify demographic, genetic, environmental, and other factors shaping the drug development process. They give scientists and researchers a better estimate of the prevalence of the disease, help identify potential biomarkers, affect clinical outcome assessments, and determine the feasibility of established assessments for clinical trials.

Finding people to take part in research into a rare disease is inherently difficult, so reaching out to patients and helping them learn about the process helps expand the pool of potential participants.

Dr. Chambers says he hears about the difficulties of natural history studies from both sides, with researchers saying they can’t find patients to take part in the study, and patients saying they can’t find the study in which to participate.

“The starting point for each of these is genetic testing,” he said.

***

Hope in Focus would like to thank this session’s moderator, Jonathan Stokes, and its panelists, Emily Place, Dr. Wiley A. Chambers, Jill Dolgin, and Jacose Bell.

We are also grateful for the support of our sponsors in helping bring to fruition a gathering of such importance and relevance to the LCA and IRD community. Thank you, Spark Therapeutics, Foundation Fighting Blindness, MeiraGTx, Janssen, Atsena Therapeutics, Ocugen, and Kiora Pharmaceuticals.

*Please see our Hope in Focus website for three more stories detailing sessions from our 2023 LCA Family Conference. Click here to see a video about the conference.