HOPE IN ACTION: A Conversation with Laura Manfre

 In Blog

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.


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