Hope In Focus Statement for Connecticut’s Rare Disease Day

Celebrating Connecticut Rare Disease Day 2022, Hope in Focus presented remarks Friday, February 25, 2022, to the Connecticut State Legislature on behalf of those living with Leber congenital amaurosis and other rare inherited diseases. The last day of February is the official annual Rare Disease Day, celebrated nationally and around the globe.

Courtney Assad, our Director of Outreach and Engagement, represented Hope in Focus on a Zoom call hosted by the National Organization for Rare Disorders (NORD) and NORD’s Connecticut Rare Action Network.

Good morning. Thank you, Connecticut General Assembly members for joining us today. I’m excited to have joined Hope in Focus (you may know us formerly as Sofia Sees Hope) and I’m proud to now be an advocate for rare disease.

For eight years, Hope in Focus has been dedicated to generating awareness, supporting affected families, and raising funds to advance research for diagnosis, treatments, and cures for blindness caused by Leber congenital amaurosis and other rare inherited retinal diseases, such as Retinitis Pigmentosa.

Leber congenital amaurosis, known as LCA, is characterized by severe vision loss at birth. While some children are born with little or no vision, others may have significant vision loss in the first few years of life, stable vision for a period of time, and then eventually complete vision loss as the retina deteriorates into total blindness.

More than 27 genes are associated with LCA and a mutation in just one of these can result in blindness. LCA is estimated to occur in about 1 in 33,000 people. This represents 108 in CT.

After decades of research and dedicated investment in studies, scientists created a ground-breaking genetic therapy that helps restore vision in patients with one of the genetic mutations causing LCA, RPE65. In 2017, the Food and Drug Administration approved a treatment –developed by Spark Therapeutics called LUXTURNA® – which also is the first genetic therapy ever in the United States to treat ANY rare inherited disease.

Meanwhile, genetic diagnosis alone remains a significant challenge for many. Individuals living with this disease need to confirm their genetic diagnosis so they can better understand and prepare for the progression of the disease, including in some cases life-threatening conditions like kidney failure as one example, in addition to vision loss.

Confirmation of the genetic diagnosis also allows individuals to support the advancement of research into treatments and be available for treatment where they exist. To date, Hope in Focus has contributed more than $140,000 for this vital resource of genetic testing and counseling for patients.

Hope in Focus also has raised and donated more than $335,000 to fund genetic retinal research. There are many gene-based clinical trials targeting several different genes, as well as retinal cell therapy trials in progress. Additionally, more genes are under investigation in the preclinical pipeline.

LCA patients treated with LUXTURNA® experienced dramatic changes in their lives with greatly improved or restored vision. Five, 6, 7-year-old children treated with LUXTURNA® view life in a new light in big and little ways. They now can see rainbows arcing in the sky and stars shining at night.

The optimal window for reversing vision loss is during the early phase of the disease. Current clinical trials and pre-clinical research give HOPE to those with one of the 26 other gene mutations identified to cause LCA. Research is critical to advancing treatments for LCA and other rare inherited retinal diseases.

When LUXTURNA® was first introduced, several states attempted to pass laws to deny access to treatment to individuals, stating that a certain degree of blindness must be met before they could access treatment. Such restrictions are unacceptable and go against federal health recommendations, which state that the earlier the intervention, the better the expected outcome.

No one who qualifies according to FDA guidelines should ever have to wait to be “blind enough” to receive access to treatment. Hope in Focus along with other organizations was quick to call these states out. We urge the Connecticut General Assembly to support patient access to FDA-approved treatments.

When treatments are available and accessible, it impacts not only the quality of life of the recipient, but there is also a positive economic impact for them, and to the state. The reality is that those living with vision loss very often require additional support from government safety nets, as they are more likely to experience difficulty finding work, and experience issues from loss of independence to physical accidents, to mental health issues.

Hope in Focus strives to keep hope at the center of our messaging so that together we can make vision possible for those living with LCA. We are thankful you have taken the time to listen and start to understand the complexities around rare disease and access to treatments and services.

Thank you.