A Prospective Natural History Study of Patients with ADOA
Research type
Research Study
Full title
A Prospective Natural History Study of Patients with Autosomal Dominant Optic Atrophy
IRAS ID
308673
Contact name
Patrick Yu Wai Man
Contact email
Sponsor organisation
Stoke Therapeutics, Inc
Duration of Study in the UK
3 years, 0 months, 1 days
Research summary
Autosomal Dominant Optic Atrophy (ADOA) is a genetic disease that affects the optic nerves caused primarily by mutations in the OPA1 gene found on Chromosome 3. ADOA leads to reduced visual acuity and is a contributing factor to blindness, vision loss or impairment, beginning in childhood. While complete loss of vision from ADOA is not likely, vision can be severely impacted, causing nearly 50% of affected children or adults to become legally blind. There is currently no treatment or cure for ADOA.
STK-002-OA-901, sponsored by Stoke Therapeutics, is a multicentre, prospective natural history study in patients with genetically confirmed ADOA. The purpose of the study is to gather information about patient’s overall experience with ADOA, how ADOA affects them and how it is managed, with the goal of using this information to investigate a potential new investigational medication to treat ADOA.
The study is comprised of a Baseline assessment and a 24-month observation period. Eligible patients will be enrolled in the study at the Baseline Visit and will undergo baseline ocular (eye) testing. Patients will then undergo clinical and ocular assessments at 6 months, 12 months, 18 months, and 24 months after enrollment. Approximately 45 patients aged ≥8 to ≤60 years will be enrolled in this study. This will include approximately 15 patients aged 8 to 17 years, approximately 20 patients aged 18 to 40 years, and approximately 10 patients aged 41 to 60 years.
Ocular tests include: Refraction, Best-corrected visual acuity assessed by Early Treatment Diabetic Retinopathy Study (ETDRS) chart, MNREAD acuity chart, Pelli-Robson chart, Low contrast Best-corrected visual acuity (BCVA), Slit lamp examination, Intraocular pressure measurement, Humphrey automated perimetry, Dilated fundoscopy, OcuMet Beacon imaging (optional), Optical coherence tomography, Electroretinogram (optional) and Fundus photographs. Blood samples for biomarker testing will also be taken.
REC name
Yorkshire & The Humber - South Yorkshire Research Ethics Committee
REC reference
22/YH/0074
Date of REC Opinion
5 May 2022
REC opinion
Further Information Favourable Opinion