Foundation Fighting Blindness Launches Natural History Study for Gyrate Atrophy

The Foundation Fighting Blindness has launched a natural history study targeting gyrate atrophy, a rare and sight-threatening inherited retinal disease. Spearheading this initiative are esteemed researchers Dr. Mandeep S. Singh, MD, PhD, and Dr. David Valle, MD, from the Wilmer Eye Institute at Johns Hopkins University.

In collaboration with Dr. Jefferson Doyle, MD, PhD, MHS, also from the Wilmer Eye Institute, Singh and Valle are actively developing a systemically delivered gene therapy for gyrate atrophy. This innovative venture is backed by the Jaeb Center for Health Research, serving as the study's sponsor and coordinating center.

Dubbed the Gyrate Atrophy Ocular and Systemic Study (GYROS), this ambitious $3.5 million endeavor aims to lay the groundwork for future clinical trials targeting gyrate atrophy. The study will include a series of imaging and visual function tests to gain deeper insights into the disease's impact on the retina and its progression rate. By closely monitoring forty-five participants over a four-year period across twelve clinical research sites, the Foundation's Clinical Consortium will be at the forefront of advancing our understanding of gyrate atrophy.

Funding for GYROS stems from a collaborative effort involving three key entities. The Foundation is contributing $1.8 million, while the Food and Drug Administration (FDA) of the U.S. Department of Health and Human Services (HHS) is providing $1.6 million as part of a financial assistance award. Additionally, Conquering Gyrate Atrophy, a nonprofit dedicated to research and advocacy, is generously contributing $100,000 towards the initiative.

Gyrate atrophy is characterized by progressive retinal degeneration leading to night blindness, peripheral vision loss, and severe childhood-onset myopia. This condition, resulting from mutations in the ornithine aminotransferase (OAT) gene, follows an autosomal recessive inheritance pattern. Individuals with gyrate atrophy face challenges in metabolizing ornithine, leading to its accumulation in plasma and tissues. Some opt for an arginine-restricted diet, prescribed by medical professionals, to mitigate retinal degeneration, though adherence to such a restrictive regimen can be daunting.

"We are excited to lead a world-class collaboration that's enabling the research community to better understand how gyrate atrophy affects the retina and vision in patients," expressed Dr. Todd Durham, Senior Vice President of Clinical & Outcomes Research at the Foundation Fighting Blindness. "GYROS results will be essential to the design and launch of the planned gene therapy clinical trial, and ultimately, getting a vision-saving treatment out to the people who need it.”

Karabi Acharya, ScD, Founder of Conquering Gyrate Atrophy, echoed this sentiment, stating, "This is a huge step towards finding a cure for gyrate atrophy and provides hope to patients and families.”