LCA5 Gene Therapy Provides Vision Improvements in Clinical Trial

Nothing is more hopeful or gratifying for the retinal disease community than an emerging or FDA-approved therapy that provides vision to people with advanced retinal disease. Such is the case with Opus Genetics’ gene therapy for Leber congenital amaurosis 5 (LCA5) in an early-stage clinical trial.

In March 2024, the company announced vision improvements for the first three adult patients in its Phase 1/2 LCA5 gene therapy clinical trial. Some patients, who had been almost totally blind since birth, can now see and identify objects for the first time. The company has also reported positive safety data for the trial thus far.

Though LCA5 patients have severe vision loss at birth, they have some surviving retinal structure that researchers believe can be harnessed for improved vision using gene therapy.

Known as OPGx-001, the gene therapy uses a human-engineered adeno-associated virus (AAV) to deliver healthy copies of the LCA5 gene to patients’ retinas, augmenting the mutated copies that cause vision loss. The therapy is administered through a one-time injection underneath the retina. Researchers believe gene therapies will be effective for many years, perhaps for the patient’s lifetime.

Opus plans to administer the next highest dose of its LCA5 gene therapy to the next cohort of adult patients in mid-2024. The company also has plans to dose patients as young as 13 years old sometime in the future.

The Phase 1/2 clinical trial is led by Tomas S. Aleman, M.D., at the Center for Advanced Retinal and Ocular Therapeutics (CAROT), Scheie Eye Institute, Department of Ophthalmology of the Perelman School of Medicine, University of Pennsylvania.

Courtney Coates, Hope in Focus’s Director of Outreach and Development, stated, “We are thrilled that patients in this trial are having early success with the low-dose treatment. We look forward to hearing more as the next cohort is enrolled for the mid-dose.”

The LCA5 gene therapy clinical trial is the first launched by Opus, a company founded in 2021 by the RD Fund, the venture arm of the Foundation Fighting Blindness, which is investing in companies near or in early-stage clinical trials for their retinal degenerative disease treatments.

Promising RNA Therapies for LCA10 and USH2A Move Back into Clinical Trials

Moving emerging therapies through clinical trials and across the finish line is often challenging—and in some cases, harrowing. Many treatments never make it.

In early 2022, the future looked bleak for ProQR Therapeutics’ two RNA therapies in clinical trials. The biotech company reported that sepofarsen, its RNA therapy for LCA10 (IVS26 mutation in CEP290), did not meet its primary endpoint of improvement of at least three lines in best-corrected visual acuity or BCVA. (Improvement in BCVA was only on average two lines in the Phase 2/3 trial.) That news came despite vision improvements, some significant, for many patients. But missing the primary endpoint led ProQR to stop development of its ophthalmology assets—sepofarsen and ultevursen (exon 13 mutations in USH2A)—and attempt to find a company to acquire them.

Mike Schwartz, who was then vice president, global project leader, at ProQR, said, “That was devastating for me, the doctors, and the patients.” He noted that one patient with LCA10 in the trial with only light perception gained enough vision after receiving sepofarsen to see letters on an eye chart. Another LCA10 patient in the study returned to his work as a carpenter after treatment.

Fortunately, a year and a half later, the large European eye care company Théa acquired sepofarsen and ultevursen and formed the Sepul Bio business unit to move the therapies back into clinical trials. Many former ProQR staff went to Sepul Bio, including Mr. Schwartz, who is now their chief operating officer.

The global HYPERION Phase 3 clinical trial for sepofarsen and the LUNA Phase 2 trial for ultevursen are now underway. Using what was learned from the ProQR trials, the Sepul Bio team made significant changes to the designs (protocols) for the clinical trials, changes they believe will greatly improve chances for success. Mr. Schwartz thanked the Hope in Focus team for providing input from patients for the sepofarsen clinical development program.

One major change in the new sepofarsen clinical trial protocol has to do with the placebo. In most clinical trials with regulatory authorization, the treatment group is compared to a placebo or control group to ensure that efficacy is indeed a result of the treatment. In the original sepofarsen trial, treated eyes of LCA10 patients were compared to the eyes of untreated LCA10 patients (i.e., the control group). Comparing treated patients to untreated patients was less than ideal because of significant variations in vision loss among LCA10 patients. So, in the new trial, each LCA10 patient will have one eye injected with sepofarsen and the other will get a saline placebo injection. The patient won’t know which eye is getting the treatment. Sepul Bio believes comparing untreated and treated eyes for the same patient will lead to less variation and a stronger efficacy signal.

Keep in mind that sepofarsen injections are made into the vitreous, the soft gel in the middle of the eye. These intravitreal injections are performed routinely (e.g., monthly) and safely in doctors’ offices for treating age-related macular degeneration. In the sepofarsen clinical trial, patients will receive injections every six months.

Sepul Bio’s RNA therapies, known as antisense oligonucleotides (ASOs), are tiny pieces of genetic material that fix mutations in RNA—the genetic messages that cells read to make proteins critical to the cells’ health and function.

Stay tuned. We will report on updates from the trials as soon as we receive them.

For more information on the sepofarsen or ultevursen trials, send an email to: contact@sepulbio.com.

Testing the Limits: What is your Kilimanjaro?

Throughout my life, I’ve pushed my body to do some incredible things—from wrestling in high school to running a marathon to later backpacking in the wilds of British Columbia. But on October 7, 2025, I literally reached new heights as part of a group of nine legally blind individuals who successfully summited Tanzania’s Mount Kilimanjaro. Our group set a world record for the largest number of legally blind climbers to reach the mountain’s summit in a 24-hour period!

Jack standing next to his guide on top of the mountain with signs behind them.
Jack with guide on Mount Kilimanjaro

As the biggest mountain in Africa and the highest freestanding peak in the world, Kilimanjaro is challenging for everyone. It took seven days of grit, fatigue, and trust in our guides to reach the point where we began the final climb to the top. The physical strain left my body aching, and altitude sickness gave me one of the worst headaches I’ve ever had. Sleeping in a tent in freezing conditions was wearing, and I quickly missed hot showers. Within twenty minutes of starting our ascent, I lost count of the rocks I had to climb over. Being legally blind required my full concentration. I had to carefully probe the ground ahead with my hiking poles before each step and listen intently to my guide’s directions, alerting me to constant obstacles along the trail.

I also experienced many challenges. On day three, I had severe dehydration and nearly fainted trying to make it to the washroom in the night. Reaching the summit meant experiencing oxygen levels as low as 47 percent, leaving me breathless every few steps. The descent was no less demanding, for hours I slid down loose gravel, followed by two days of climbing down rocky terrain on tired legs.

Getting to the top of this famous mountain was worth it, but I’d be lying if I said I wanted to do it again. You might be thinking this sounds like a great adventure and wonder how you might do something like this. Or, maybe you’re wondering how we safely accomplished the climb.

The answer is simple—with a lot of support from local experts. We partnered with Nana Safaris, a tour company experienced in guiding legally blind climbers, which matched each member of our group with a local guide. My guide, Thomas, was certified by the Tanzanian government and had summited Kilimanjaro 370 times before our climb. Before setting out, we discussed how he could best assist me. Throughout the trek, Thomas carefully led the way, holding one of my hiking poles so I could sense the path ahead. He gave clear verbal directions and, in high-risk sections, had me hold on to a rock or showed me exactly where to step by placing my pole. Thanks to his expert guidance, I always felt safe.

Challenging adventures like this are possible with proper planning and support. If you’re considering climbing Kilimanjaro or visiting Tanzania, Nana Safaris is the most experienced company for supporting people with disabilities. We documented our journey and will be releasing a documentary about our adventure—follow us on Facebook to stay updated.

Nana Safaris: www.nanasafaris.com

Kilimanjaro Blind on Facebook: www.facebook.com/people/Kilimanjaro-Blind/61580093186046/

What’s for Dinner?

Wondering what has been served at Dinner in the Dark over the years? Here are the menus!

Dinner in the Dark 2025

This year marked our 10th Dinner in the Dark, held on November 1 at Foxwoods Resort Casino — a milestone we were thrilled to celebrate with new and familiar faces. Together, we dined, danced, and raised our paddles high in support of those living with Leber congenital amaurosis (LCA) and other rare inherited retinal diseases.

1st Course: Shrimp & Tomatoes
Marinated Chilled Shrimp, Heirloom Tomatoes, Pimento Cheese, Red Onion Relish

Vegan Option:
Sugar beet, green apple, local cranberries, candied walnuts, pink ginger emulsion

1st Course, not vegan: Shrimp and Tomatos

2nd Course: Roasted Chicken
Lemon Zatar Seasoned Bell & Evans Chicken, Grilled Corn & Figs, Haricot Verts, Polenta, Chicken Jus

Vegan Option:
Olive oil polenta, wild mushroom ragout, grilled zucchini & squash, fire roasted grape tomatoes, fresh basil

Second course, non vegan: Chicken Dinner with polenta underneath and a fig next to it

Assorted Dessert Buffet

Exotic Cake
Pumpkin Cheesecake
Chocolate Liégeois
Fruit cup

Dinner in the Dark 2024

This year, we celebrated the 10th anniversary of Hope in Focus at a new venue- Foxwoods Resort Casino. With 330 guests to feed, Foxwoods truly outdid themselves. Here are the fantastic meals we had on the menu!

1st Course: Autumn Panzanella
Sweet Potato, Butternut Squash, Asian Pear, Dried Cherries, Bacon Lardons, Crispy Brussel
Leaves, Friese, Boston Brown Bread Croutons, Maple-Balsamic Vinaigrette

Autumnal-colored salad sitting on a pasta bowl.

2nd Course: Land & Ocean
Citrus & Rosemary Rib Eye Cap, Langoustine, Butter Basted Lobster Tail, Potato Puree
Parisienne Carrots, Red Wine Demi

Vegan option: King Mushroom Oyster Scallop
Butternut squash puree, asparagus tips, sautéed green beans with charred citrus oil.

Portion on steak with a lobster tail sitting on top, sauce drizzled around steak with neatly cut up vegetables surrounding it.

3rd Course: Chocolate Napoleon or Sangria Tart
Chocolate Napoleon:
Crunchy Brownie. Pop Rocks, Crème Fraiche, Strawberry- St Germaine Coulis

Chocolate brownie, around it is strawberry drizzle

Sangria Tart:
Red Wine Mixed Berry Gelée, Lime Almond Cream, Raspberry Chips, Vanilla Chantilly

Flaky crust with mixed berries. On top, a dollop of whipped cream.

Dinner in the Dark 2023

We had one heck of a blast at our 8th Annual Dinner in the Dark gala fundraiser at the Mystic Marriott and Spa in Groton, Connecticut! 

We hope you joined us Saturday, October 14th, for this extraordinary menu designed for our event by the Marriott, and to Foxwoods Resort Casino for their in-kind donation. If you did and could not read the menu scripted in Braille, here is the menu that you and more than 270 people enjoyed that evening: 

1st Course: Appetizer 
Orecchiette with Wild Mushroom, Sweet Pea Broth, Prosciutto Crisp, Duck Confit, and Caciocavallo Cheese 

Vegan Option: Hummus Falafel 

The first course, non vegan with a Hope in Focus sign next to it

2nd Course: Salad 
Boston Bibb, Rosemary Pears, Goat Cheese, Dried Cranberries, Olive Oil, Garlic and Parmesan Gluten-Free Breadsticks 

Vegan OptionSame Salad without the Goat Cheese 

The second course, non vegan with a Hope in focus sign behind it

3rd Course: Intermezzo 
Acai (Sorbet) with or without Prosecco Rosé

The sorbet with a Hope in Focus sign behind it

4th Course: Entrée Duet Plate Seafood & Short Rib 
Pan Seared Cod with Leek Fondue and Beluga Lentil Casserole with Braised Burgundy Short Ribs in Braising Sauce, Truffled Potato Duchess, and Asparagus Gratin 

Vegan Option: Plant-Based Meatloaf with Mushroom Gravy, Olive Oil Mashed Potatoes and Gratin Byaldi 

The fourth course, non vegan with a Hope in Focus sign behind it

Dinner in the Dark 2022

Passed Hors d’Oeuvres
Butler passed beef wellington with horseradish cream
Lemongrass and chicken pot stickers with teriyaki dipping sauce
Truffle mushroom arancini

1st Course:
Aged Grana Padano Pan Seared 10/20 Scallops over
Sweet Potato & Cumin Cured Pork Belly Hash and Butternut Squash & Aged Grana Padano Caponata

2nd Course:
Burrata and Tuscan Salad
Petit Burrata/Aged Balsamic Reduction/Mixed Olives/Oven Roasted Tomatoes/Grilled Artichokes/Vermont Cheddar Curds/Micro Basil/Passionfruit Caviar/Focaccia Crostini

3rd Course:
Duet Plate of Filet & Salmon
Cocoa & Coffee Rubbed Filet with Pan Roast Chimichurri Mushrooms and Duck Fat Roasted Potato Lyonnaise
Petit Farroe Island Salmon with Peach and Orange Botanical Vodka Beurre Blanc, Black Lentils, Warm Fennel Salad, Cauliflower Puree

Dessert Buffet:

Dinner in the Dark 2019

Passed Hors d’Oeuvres

1st Course:
Asian Fall vegetable wrap with dipping sauces

2nd Course:
Wild boar & sausage Bolognese with bucatini pasta and shaved fennel

3rd Course:
Chicken Tamale

Dessert Buffet:

Dinner in the Dark 2018

1st Course:
Pan Seared Scallops
Sweet Pea Puree, Shitake and Bacon Hash, Charred Asparagus Tips,
Roasted Baby Heirloom Tomatoes

2nd Course:
Caprese Napoleon
Smoked Paprika, Roasted Herb Tomato, Black Truffle Burrata Cheese, Black Truffle Pearls, Pesto, Balsamic Fig Reduction, Micro Basil

3rd Course:
Pistachio and Raisin Chutney Stuffed Statler Chicken
Truffle Potato Puree, Carrots, Parsnips, Turnip, Citrus Beurre Blanc

Dessert:
Assorted mousse station
Raspberry, Blackberry, Nutella

Dinner in the Dark 2017

1st Course:
Japanese potato crusted Scallops with cauliflower curry puree
accompanied with segments of citrus (grapefruit, lemon, lime) and scent of pine

2nd Course:
Warm zucchini soup topped with zucchini noodles and a cool red pepper foam

3rd Course:
Beef Wellington with red pepper ragout, grilled vegetables, potato gratin, rosemary scent

Dessert Station:
Smoked S’mores – Live action station
Graham cracker tart, chocolate ganache, chocolate mousse and torched marshmallow topping

Dinner in the Dark 2016

Passed Hors d’Oeuvres
Greek salad skewers with cucumbers, kalamata olives grape tomatoes and a feta-oregano vinaigrette
Lemongrass chicken skewer with a mint-ginger rub and pickled plum jam
Lobster profiteroles
Micro arugula & grapefruit

1st Course:
Soup & salad duet plate with roasted chestnut mushroom cappuccino soup
& baby spinach salad with pomegranate, candied walnuts and a cider vinaigrette

2nd Course:
Smoked duck breast sliced over pumpkin flan, balsamic-fig gastrique

3rd Course:
Wild King Salmon en papillote with fennel, arugula, carrots and grapefruit

Dessert Buffet:
Pumpkin crème brulee
Apple tartlet
Mocha pot d’ crème
French macaroons

Reception
International cheese display & vegetable crudite & dips

Parmigiano Reggiano, Vermont cheddar, smoked gouda, brie, herb-crusted chevre with artisan breads and gourmet crackers

1st Course:
“Popcorn” Shrimp – chili lime marinated grilled shrimp on a skewer served over avocado salad with pickled onions, mini seasoned popcorn & wine

2nd Course:
Sunburst Salad Trio served in savory cones with three types of dressings for dipping: sherried green goddess dressing, verjus feta vinaigrette, yuzo wasabi vinaigrette

3rd Course:
Moroccan braised beef short rib served with risotto timbale & roasted winter vegetables

Dessert Buffet:
Chocolate coffee & donuts
Apple cobbler in a mini apple
Fizzy fruit shooters
Pumpkin chestnut panna cotta in a mini pumpkin

Dinner in the Dark 2014

Reception:
Local artisan cheeses with artisan breads and gourmet crackers

1st Course:
Soup shooter duet: butternut squash bisque & dragon chowder

2nd Course:
Asian Fall vegetable wrap served with three dipping sauces: sesame ginger, thai salted lime and cucumber cream

3rd Course:
Stonington scallop risotto with truffle pearls

4th Course:
Pan roasted guinea fowl with parsnip mashed potatoes & brussel sprouts

Dessert:
Mini chocolate lava cake
Curry marshmallow popcorn
Frutta di bosco

Reports on Gene Therapy Advances: A Highlight from the 2025 Hope in Focus Conference in Minneapolis

Gene therapy is unequivocally the most advanced approach for treating retinal diseases like Leber congenital amaurosis (LCA). Of course, there’s LUXTURNA® which is FDA-approved and has restored significant vision for people with LCA caused by RPE65 mutations. But several other emerging gene therapies are, or will soon be, in clinical trials. Excitingly, some are restoring vision early in human studies.

I had the honor and privilege of moderating an expert research panel at the 2025 Hope in Focus Conference last June in Minneapolis to discuss some of the exciting developments in LCA gene therapies. The three panelists were Kenji Fujita, MD, chief medical officer, at Atsena Therapeutics; Sarah Tuller, JD, chief regulatory officer at Opus Genetics; and Bikash Pattnaik, PhD, a professor at University of Wisconsin-Madison.

Atsena’s LCA1 Gene Therapy Moving into Phase 3

Dr. Fujita delivered the exciting news that Atsena’s LCA1 (GUCY2D) performed very impressively in a Phase 1/2 clinical trial. “We were super-thrilled with the results,” he said. “The gene therapy worked better than we expected.” Thanks to the excellent results, the gene therapy is moving into Phase 3 in a co-development partnership with Nippon Shinyaku which brought a few of their representatives to Minneapolis.

The Phase 1/2 trial enrolled nine adults in Part A (the dose escalation group) to evaluate initial safety and determine the optimal dose. An additional three adults and three pediatric patients were subsequently dosed. Patients receiving the highest dose (all were treated in one eye) had 100-fold improvement in retinal sensitivity, as measured by full-field sensitivity (FST). Some had10,000-fold improvement. Patients were also able to navigate a multi-luminance mobility test (MLMT) in dimmer light (two lux levels lower) after treatment. “This was a transformative difference, on par what we have seen with LUXTURNA,” said Dr. Fujita.

The Phase 3 clinical trial will enroll a larger group of patients and treat both eyes. Some patients will be in a deferred treatment group, serving initially as controls.

The Foundation Fighting Blindness, through its RD Fund, is an original investor in Atsena.

Opus Genetics, a company established by the Foundation Fighting Blindness in 2021, launched its first clinical trial in 2023 for an LCA5 gene therapy. LCA5 is a severe retinal degeneration diagnosed in a child’s first year. It is also very rare, affecting only about 200 patients in the US. 

Opus reported excellent results for the first three patients (adults) in the trial with improvements in FST and virtual maze navigation. The company is now dosing pediatric patients and expects to report on them in the third quarter of 2025. “We are trying to move forward as aggressively as the FDA will allow,” said Ms. Tuller.

She acknowledged the great work of Dr. Tomas Aleman, the principal investigator on the trial, who was also at the meeting and had an engaging discussion with Sarah McCabe, one of the first patients to receive an RPE65 gene therapy.

A CRISPR Therapy is Emerging for LCA 16 

Dr. Pattnaik reviewed his team’s emerging CRISPR gene editing approach for correcting the W53X mutation in the gene KCNJ13 which causes LCA16. He explained that the treatment works like molecular scissors to cut out the mutation. 

Dr. Pattnaik is using lipid nanoparticles ⎯ which are like microbubbles ⎯ to deliver the treatment into retinal pigment epithelial (RPE) cells. Unlike most other genetic therapies which use engineered viruses to get genetic cargo into cells, nanoparticles have the advantage of being able to deliver therapeutic cargo of any size. Also, they are less likely to cause an immune reaction than viral systems.

Dr. Pattnaik tested the approach in cells and small animal models, and is now evaluating it in a large animal. He said the FDA is very positive about their current development plan. 

The CRISPR therapy is currently funded through a grant from the National Institutes of Health (NIH) and was previously supported by the Foundation Fighting Blindness.

Dr. Pattnaik is also a co-founder of Hubble Therapeutics which is advancing a KCNJ13 gene augmentation therapy developed in his lab.

Diverse Emerging Therapies Featured at the 2025 Hope in Focus Conference in Minneapolis

The development of diverse treatment approaches for Leber congenital amaurosis (LCA) is necessary because no single modality will work for everyone affected. While development of gene augmentation therapies (i.e., replacing mutated genes with healthy genes) has much momentum, other approaches also show promise as they move into and through clinical trials. Three of those emerging alternatives were discussed by a panel of experts at the Minneapolis meeting in June. The panel was moderated by Amy Laster, PhD, chief scientific officer, Foundation Fighting Blindness.

Ray Therapeutics’ Optogenetic Approaches

Raj Agrawal, MD, the vice president of clinical development at Ray Therapeutics, presented his company’s emerging optogenetic therapies which are moving into clinical trials for retinitis pigmentosa (RP)choroideremiaStargardt disease, and age-related macular degeneration. While Ray isn’t currently targeting LCA, optogenetics is an approach which may be applicable to some LCA patients.

Optogenetics is a gene-independent approach for restoring some vision for people with advanced inherited retinal diseases (IRDs) who have lost most or all their photoreceptors (rods and cones), the retinal cells that make vision possible. Ray’s therapies deliver genes that express a light-sensing protein called channelrhodopsin to either bipolar or ganglion cells ⎯ cells that are normally not light sensitive but survive after photoreceptors are lost. In essence, the therapies enable bipolar or ganglion cells to work like a back-up system for photoreceptors. The therapies are delivered by a one-time injection into the vitreous, the soft gel in the middle of the eye. These non-invasive injections are performed thousands of times every day in retinal doctors’ offices for treatment of AMD and diabetic retinopathy.

While Ray’s clinical trials are at an early stage, Dr. Agrawal said early reports for safety and efficacy have been encouraging. Stay tuned.

In early 2022, the biotech company ProQR reported that sepofarsen, its RNA therapy for LCA10 (IVS26 mutation in CEP290), did not meet its primary endpoint in a Phase 2/3 clinical. That news came despite vision improvements, some significant, for many patients in the trial. The endpoint miss led ProQR to stop development of its ophthalmology assets ⎯ sepofarsen and ultevusen (exon 13 mutations in USH2A) ⎯ and find a company to acquire them. 

Mike Schwartz, who was then vice president, global project leader, at ProQR, said, “That was devastating for me, the doctors, and the patients.” He noted that one patient with LCA10 in the trial with only light perception gained enough vision after receiving sepoafarsen to see letters on an eye chart. Another LCA10 patient in the study was able to return to his work as a carpenter after treatment.

Fortunately, a year and a half later, the large European eye care company Théa acquired sepofarsen and ultevursen and formed the Sepul Bio business unit to move the therapies back into clinical trials. Many former ProQR staff went to Sepul Bio including Dr. Schwartz who is now their chief operating officer.

A Phase 2 clinical trial for ultevursen is underway and a global Phase 3 trial for sepofarsen is imminent. Using what was learned from the ProQR trials, the Sepul Bio team made significant changes to designs for the forthcoming trials ⎯ changes they believe will greatly improve chances for success. Mr. Schwartz thanked the Hope in Focus team for providing input from patients for the sepofarsen clinical development program.

Sepul Bio’s RNA therapies, known as antisense oligonucleotides (ASOs), are tiny pieces of genetic material that fix mutations in RNA, the genetic messages that cells read to make protein that’s critical to the cells’ health and function. Both sepofarsen and ultevursen are delivered by intravitreal injections every six months.

BlueRock Therapeutics’ Photoreceptor Replacement Therapy

The development of cell therapies for IRDs has been challenging for numerous reasons. Therapeutic cells haven’t been easy to source and enabling them to survive and integrate when transplanted into patients’ retinas has been difficult.

As a panelist for the session, I had the privilege of discussing a promising photoreceptor replacement therapy from BlueRock Therapeutics which came out of the lab of stem cell pioneer David Gamm, MD, PhD, University of Wisconsin-Madison. Excitingly, BlueRock’s therapy just moved into a clinical trial for people with RP and cone-rod dystrophy. Dr. Gamm said the cells might at some point be relevant to LCA patients.

The photoreceptor precursors used in the trial came from induced pluripotent stem cells (iPSC). The iPSC were derived from a small sample of mature blood or skin cells from a healthy donor. The cells were genetically tweaked to revert back to a stem cell state. The iPSC were then coaxed forward to develop into the photoreceptor precursors. As precursors, they aren’t fully mature. Dr. Gamm research showed that precursors have the best chance at survival and integration after transplantation.

BlueRock has the backing of two prominent companies: Bayer and Fuji Film. The Foundation Fighting Blindness funded Dr. Gamm’s previous iPSC-related lab research.

The BlueRock trial is moving forward methodically so that investigators can ensure safety for patients and best understand which patients and conditions can benefit most from the approach.

The Importance of Newborn Screening

Newborn screening is essential for identifying genetic conditions, such as Leber congenital amaurosis (LCA), at the earliest possible stage. As LCA is an early-onset inherited retinal disease with severe vision loss at birth, early diagnosis is necessary for timely medical intervention, access to specialized care, and critical support for families. According to the National Organization for Rare Disorders (NORD), newborn screenings detect approximately 14,000 infants each year with conditions that could affect their development or survival if left undetected.

The sudden shutdown of the federal committee, the Recommended Uniform Screening Panel (RUSP), which helps guide which conditions are included in newborn screenings is alarming. Without the committee, progress would slow and create a serious threat to the consistency of newborn screening nationwide.

The National Organization for Rare Disorders (NORD) is advocating for the reinstatement of this committee and continued investment in comprehensive, state-wide newborn screening programs. Hope in Focus signed on to a letter of support to HHS Secretary Kennedy. As members of the LCA community, we push our community to recognize the importance of preserving and advancing early detection for rare diseases.

We encourage our community to spread awareness of newborn screening programs and rare disease research.

LCA5 Gene Therapy Provides Vision Improvements in Clinical Trial

Nothing is more hopeful or gratifying for the retinal disease community than an emerging or FDA-approved therapy that provides vision to people with advanced retinal disease. Such is the case with Opus Genetics’ gene therapy for Leber congenital amaurosis 5 (LCA5) in an early-stage clinical trial.

In March 2024, the company announced vision improvements for the first three adult patients in its Phase 1/2 LCA5 gene therapy clinical trial. Some patients, who had been almost totally blind since birth, can now see and identify objects for the first time. The company has also reported positive safety data for the trial thus far.

Though LCA5 patients have severe vision loss at birth, they have some surviving retinal structure that researchers believe can be harnessed for improved vision using gene therapy.

Known as OPGx-001, the gene therapy uses a human-engineered adeno-associated virus (AAV) to deliver healthy copies of the LCA5 gene to patients’ retinas, augmenting the mutated copies that cause vision loss. The therapy is administered through a one-time injection underneath the retina. Researchers believe gene therapies will be effective for many years, perhaps for the patient’s lifetime.

Opus plans to administer the next highest dose of its LCA5 gene therapy to the next cohort of adult patients in mid-2024. The company also has plans to dose patients as young as 13 years old sometime in the future.

The Phase 1/2 clinical trial is led by Tomas S. Aleman, M.D., at the Center for Advanced Retinal and Ocular Therapeutics (CAROT), Scheie Eye Institute, Department of Ophthalmology of the Perelman School of Medicine, University of Pennsylvania.

Courtney Coates, Hope in Focus’s Director of Outreach and Development, stated, “We are thrilled that patients in this trial are having early success with the low-dose treatment. We look forward to hearing more as the next cohort is enrolled for the mid-dose.”

The LCA5 gene therapy clinical trial is the first launched by Opus, a company founded in 2021 by the RD Fund, the venture arm of the Foundation Fighting Blindness, which is investing in companies near or in early-stage clinical trials for their retinal degenerative disease treatments.

Seeing Home Differently: Purchasing a Home for Life with a Visual Impairment

As someone with a visual impairment, I’ve learned the importance of choosing accessible environments. I recently purchased my first home and wanted to share some lessons I learned about accessibility and the home-buying process.

One of the most important decisions anyone makes when selecting a home is picking a real estate agent who understands your needs and desires. Of course, you want someone who knows your local market and won’t pressure you to make a decision you aren’t ready for. But as someone living with a visual impairment, I also wanted an agent who had experience helping people with disabilities find a home. I started by speaking with a few agents who mentioned having this expertise on their websites, but I did not find anyone I felt comfortable working with.

The Right Agent

Thankfully, I asked a friend who is also visually impaired and who had recently moved. He had an excellent referral for an agent whom I contacted and chose to work with. Because of my real estate agent’s knowledge and experience, he was able to help me narrow my search by eliminating areas with poor public transit or limited businesses within a walkable distance. He also helped me identify features that would make my life easier as a visually impaired person, such as green space for my guide dog, nearby access to trails making it easier for me to run with a guide, easy-to-use appliances, and lots of lighting.

I looked at a lot of properties, and it was overwhelming! As I searched, I also discovered several things that would make my life better. I eliminated properties that required renovations. I’m not handy and have no interest in supervising a construction project. I also excluded properties on busy roads because it’s much easier for me to navigate quieter spaces, and I like to avoid noise as much as possible.

Adding Accessibility

I ended up purchasing a first-floor condo, which provides for trouble-free maintenance. It has a large patio, making it easy to take my guide dog outdoors, and it allows me to be outside as much as possible.

Once I moved in, there were a few things I needed to do to make my new home more accessible for me. Some rooms were not as bright as I wanted, so I purchased the brightest LED lightbulbs I could find. I was also tired of having thermostats that I could not control independently. Thankfully, there is a wide selection of thermostats that you can control with an app on your phone. I got an EcoBee thermostat and found the app fully accessible. Finally, I put Braille labels on all my appliances so I can use them independently. The Braille Superstore is a great place to get a Braille label maker and other stickers/labels to make your home more accessible.

I’m thrilled to have my own home and to live in an accessible and comfortable place. I hope my experience gives you some ideas regarding purchasing a home and how to make it more accessible for you or a loved one.

VISION BEYOND SIGHT: The Power of Community

It can be easy to feel alone living with an inherited retinal disease (IRD). As a kid, only one other person in my school had a visual impairment. Recently, I went on a first date with someone who said, “Forgive me if I ask any dumb questions—I’ve never dated someone who is visually impaired before.” She is not the first person to express such a sentiment on a date with me. In fact, I’m pretty sure I’m the first visually impaired person for every woman I’ve dated. I’m also the first visually impaired colleague, friend, etc., for most people in my life.

Throughout my life, community has played a significant role in helping me feel less alone in these moments. I’ve been fortunate to be connected to groups of other visually impaired people, where I’ve been able to learn from their successes, feel less alone by connecting with others who have similar experiences, and support people who are experiencing challenges I have overcome.

It is common for young people with visual impairments not to feel fully seen or understood by their sighted peers. For many, finding a community of visually impaired peers is the first time they feel they can truly be themselves in social situations. These environments can help them develop more confidence interacting in other social situations.

Having access to such communities has helped me get to where I am today. When I think that accessibility barriers are too significant to overcome, I can look in my community for proof that it can be done. When I feel like I am the only person going through a particular challenge, I can ask my community to find someone who has already overcome it. When I encounter an accessibility = barrier that feels unfair, my community and I can work together to fix it.

Many things can contribute to a visually impaired person’s success, and having a community is one of those foundational things that I encourage everyone with a visual impairment to seek. Of course, a community can only do so much. But I’ve learned that people are resilient, and having a community can help us find and develop resiliency.

Connecting with organizations like Hope in Focus can be an excellent opportunity for you and your family. Learn more about the Hope in Focus Family Connections program, our LCA conference 2025, and other organizations supporting those living with visual impairment on our website at hopeinfocus.org.