BEDFORD, Mass. — Stoke Therapeutics has dosed the first patient in a Phase 1 clinical study evaluating STK-002, an investigational therapy being developed for autosomal dominant optic atrophy, a rare inherited disease that causes progressive and irreversible vision loss.
The study, known as OSPREY, is a dose-escalation trial designed to assess the safety, tolerability, and systemic exposure of STK-002 in children and adults between the ages of 6 and 55 who have a confirmed diagnosis of autosomal dominant optic atrophy and a disease-causing variant in the OPA1 gene. Secondary objectives include evaluating changes in visual function, ocular structure, and quality of life following treatment.
Autosomal dominant optic atrophy is the most common inherited optic nerve disorder and typically begins in childhood. About 80 percent of affected individuals experience symptoms by age 10, and roughly half are expected to become legally blind over time. There are currently no approved treatments for the condition.
“Data from our natural history study suggest that for some people affected by ADOA, the disease progresses more rapidly than previously thought,” said Dr. Patrick Yu-Wai-Man, the study’s lead principal investigator and a professor of ophthalmology at the University of Cambridge. “Based on a growing understanding of the disease biology, we believe that increasing naturally occurring OPA1 protein may help restore vision in people with ADOA. There are currently no medicines available for people living with ADOA, and there is a lot of interest in this study from the ADOA community given the potential for STK-002 to restore vision by addressing the root cause of the disease.”
The OSPREY study is an open-label trial in which participants are enrolled into sequential cohorts that receive increasing single doses of STK-002. The primary focus is on safety and tolerability, with dose escalation planned for the first four cohorts through 2026 and early 2027, pending ongoing safety assessments. Data generated from the trial are expected to inform future development plans for the therapy.
Stoke Therapeutics said autosomal dominant optic atrophy is a haploinsufficient disease, meaning symptoms arise when one functional copy of a gene does not produce enough protein to maintain normal function. The company’s approach is designed to increase the production of naturally occurring protein using antisense oligonucleotides.
“ADOA is a haploinsufficient disease, one of many that we believe are ideally suited for our ASOs that are designed to increase naturally occurring protein levels to improve health,” said Barry Ticho, M.D., Ph.D., chief medical officer of Stoke Therapeutics. “We are pleased to be expanding our approach into a new disease area, leveraging our learnings from Dravet syndrome and applying them to the development of a potential disease-modifying medicine for people living with ADOA.”
The OSPREY study is currently recruiting participants in the United Kingdom and Germany, with additional European trial sites expected to open in the coming months.
