Stoke Therapeutics enrolls first patient in natural history study of ADOA

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Stoke Therapeutics announced enrollment of the first patient in a prospective natural history study of people ages 8 to 60 who are living with autosomal dominant optic atrophy.

Stoke Therapeutics Inc. today announced enrollment of the first patient in a prospective natural history study of people ages 8 to 60 who are living with autosomal dominant optic atrophy (ADOA).

ADOA is the most common inherited optic nerve disorder. It is a rare disease that causes progressive and irreversible vision loss in both eyes starting in the first decade of life. There are currently no approved treatments for ADOA, which affects approximately one in 30,000 people globally with a higher incidence in Denmark of one in 10,000 due to a founder effect.

According to the company, most cases of ADOA are caused by mutations in one allele of the OPA1 gene, which result in half of the normal OPA1 protein production. FALCON is a two-year prospective natural history study in patients who have a confirmed diagnosis of ADOA that is caused by an OPA1 mutation. The company noted that the study is designed to evaluate the rate of change in structural and functional ophthalmic assessments. Data from the FALCON study will support the clinical development of STK-002, Stoke’s proprietary antisense oligonucleotide (ASO) in preclinical development for the treatment of ADOA.

According to the company, STK-002 is a proprietary antisense oligonucleotide (ASO) in preclinical development for the treatment of Autosomal Dominant Optic Atrophy (ADOA). Approximately 80% of individuals with ADOA experience symptoms before age 10, typically beginning between the ages of 4 and 6.

The company noted that STK-002 is designed to upregulate OPA1 protein expression by leveraging the non-mutant (wild-type) copy of the OPA1 gene to restore OPA1 protein expression with the aim to stop or slow vision loss in patients with ADOA. Stoke has generated preclinical data demonstrating proof-of-mechanism and proof-of-concept for STK-002. STK-002 has been granted orphan drug designation by the FDA as a potential new treatment for ADOA.

“ADOA is a severe and progressive disease that, for many patients, leads to legal blindness,” Barry Ticho, MD, PhD, chief medical officer of Stoke Therapeutics, said in a statement. “We look forward to partnering with the ADOA community and clinicians to learn more about this disease as we work to develop the first potential medicine to treat the underlying cause of ADOA.”

Julie Falardeau, MD, professor of Ophthalmology and Neurology at Oregon Health and Science University School of Medicine, pointed out in a statement that understanding what causes ADOA is helping diagnose the disease earlier and is, for the first time, giving physicians the opportunity to develop medicines that may be able to slow or even stop vision loss in patients diagnosed with this disease.

“We look forward to participating in the FALCON study and to generating data that will provide new insights into how the disease affects patients, which will be important as we study potential new treatments,” Falardeau said.

According to the company,FALCON is a multicenter, prospective natural history study of people ages 8 to 60 who have an established clinical diagnosis of ADOA that is caused by a heterozygous OPA1 gene variant. No investigational medications or other treatments will be provided.

The study is expected to enroll approximately 45 patients across 10 sites in the U.S., U.K., Italy and Denmark. Patients will undergo assessments at baseline, 6 months, 12 months, 18 months, and 24 months. There will be no additional follow-up period.