The landscape of treatment for Autosomal Dominant Optic Atrophy (ADOA), also known as Kjer Disease, has reached a historic milestone. The first patient has been dosed in the Phase 1 OSPREY clinical trial, which is evaluating STK-002, an investigational therapy developed by Stoke Therapeutics. This marks a significant step forward in the pursuit of a disease-modifying treatment for a condition that currently has no approved therapies.
ADOA is the most common inherited optic nerve disorder, affecting approximately 1 in 30,000 people worldwide. The condition typically presents in childhood, with around 80% of individuals developing symptoms by the age of 10. The disease causes progressive and irreversible vision loss, and approximately half of those affected eventually become legally blind. The condition is most frequently caused by variants in the OPA1 gene, leading to haploinsufficiency—a state where the body produces only half the necessary amount of the OPA1 protein, resulting in progressive optic nerve degeneration.
STK-002 is a proprietary antisense oligonucleotide (ASO) designed to address this underlying genetic cause. The therapy aims to upregulate OPA1 protein expression by leveraging the non-mutant (wild-type) copy of the OPA1 gene. By restoring OPA1 protein levels, researchers hope to maintain or even improve vision in patients with ADOA. The therapy has already received orphan drug designation from the US Food and Drug Administration.
The OSPREY study is an open-label, dose-escalation trial enrolling children and adults aged 6 to 55 with genetically confirmed ADOA. The primary objectives of the study are to assess the safety, tolerability, and blood exposure of STK-002. Secondary measures will examine visual function, ocular structure, and the overall quality of life of the participants. The study is currently recruiting in the UK and Germany, with additional European sites expected to open in the near future.
Data from the OSPREY study will be crucial in informing the future clinical development of STK-002. If successful, this global study could pave the way for the first disease-modifying treatment for ADOA, offering new hope to thousands of patients and their families who have long awaited a therapeutic breakthrough.
Medical Disclaimer: This information is for educational purposes only and does not constitute medical advice. Genetic testing and clinical management should be performed by qualified healthcare professionals.