Stoke Therapeutics公布两年数据，为罕见遗传性视力障碍患者带来希望

Stoke Therapeutics, Inc. (NASDAQ:STOK), a biotechnology company dedicated to restoring protein expression by harnessing the body's potential with RNA medicines, today announced the presentation of two-year data from the FALCON study, a prospective natural history study in people with Autosomal Dominant Optic Atrophy (ADOA) (n=47). Results were presented at the 2025 American Academy of Ophthalmology (AAO) Annual Meeting and provide important insights into ADOA, a rare, progressive disease for which there are no approved treatments. The data have informed the company's clinical development program for the proprietary antisense oligonucleotide (ASO) STK-002, currently being evaluated in the Phase 1 OSPREY study.

A summary of findings from the FALCON study includes:

• While OPA1-associated ADOA progresses slowly, 24% of patients experienced at least a five-letter loss in low-contrast visual acuity (LCVA). LCVA detects more subtle changes in optic nerve function, often before standard vision tests show a difference, making it a sensitive measure of disease progression.
• Higher levels of mitochondrial dysfunction were shown in people with ADOA compared with healthy individuals. Mitochondrial function is crucial for vision because mitochondria produce most of the energy required by the cells that make up the optic nerve.
• No significant anatomic changes in the retina were observed, suggesting that retinal dysfunction may be reversible with treatment intervention.

"These findings suggest that impaired function in the retina and the optic nerve occurs before permanent cell loss. By increasing the level of naturally occurring OPA1 protein to improve mitochondrial function, it may be possible to stabilize and even restore vision in people with ADOA," said Dr. Patrick Yu-Wai-Man, M.D., Ph.D., Professor of Ophthalmology and Honorary Consultant Neuro-ophthalmologist at the University of Cambridge, Moorfields Eye Hospital, and the UCL Institute of Ophthalmology, United Kingdom, and the primary investigator on the Phase 1 OSPREY study. "Importantly, the FALCON study has identified promising measures of disease progression in ADOA, which can be applied to both natural history and interventional studies of potential new treatments."

"The FALCON study is the largest prospective natural history study to evaluate the effects of ADOA, a rare genetic disease that leads to progressive vision loss and, for many patients, results in blindness," said Barry Ticho, M.D., Ph.D., Chief Medical Officer of Stoke Therapeutics. "These data will provide important context as we initiate our Phase 1 study of STK-002 as the first potential disease-modifying medicine for ADOA."