Inherited Optic Nerve Disease: A First-in-Human Trial for Autosomal Dominant Optic Atrophy Is Under Way

Autosomal dominant optic atrophy (ADOA) is an inherited condition that slowly damages the optic nerve, often starting in childhood. Most cases are caused by changes in a gene called OPA1, and there is no approved treatment. In 2026, Stoke Therapeutics reported that dosing is complete in the first two groups of its first-in-human trial of an experimental medicine called STK-002.

What ADOA does

People with ADOA usually notice gradually blurred central vision and trouble with colors, typically in both eyes. The OPA1 gene helps mitochondria, the energy factories of cells, work properly. When one copy of the gene does not work, the retinal ganglion cells that form the optic nerve are especially vulnerable.

How STK-002 is meant to work

STK-002 is an antisense oligonucleotide, a short, engineered strand of genetic material. It is designed to make the healthy copy of OPA1 produce more protein. In lab and animal studies, it raised OPA1 protein levels and improved mitochondrial function in patient-derived cells, and it reached retinal ganglion cells after injection into the eye.

About the OSPREY trial

• The study enrolls people aged 6 to 55 with a confirmed OPA1 disease-causing change. Adults are dosed first, then children.
• Each patient receives a single injection into one eye. Four dose levels are planned, with safety reviews between groups.
• The main goals are safety and tolerability. Vision, nerve thickness on scans, contrast and visual fields are secondary measures.
• Eight sites in the United Kingdom, Germany, Denmark, Italy and Austria are active. First results are expected in the first half of 2027. No human safety or efficacy data have been released yet.

In the company’s two-year natural history study, 24% of untreated patients lost at least five letters of low-contrast vision, a reminder that the disease keeps progressing.

What this means for you

• Slowly worsening vision in a child or young adult, especially with a family history, deserves an exam that includes the optic nerve.
• Genetic testing can confirm ADOA and is usually required to join trials.
• Low vision services can make school and work easier now, while research continues.

Optic nerve health is also at the heart of glaucoma care; this glaucoma education blog covers the basics.

Our office refers suspected optic nerve disease to neuro-ophthalmology. I share early research like this so families know where the science is heading.

Source: STK-002 completes first two phase 1 dose cohorts in ADOA (Ophthalmology Times / Modern Retina, 10/2026). This article is an educational summary written by Khanna Vision Institute and is not a substitute for medical advice.