Research roundup, November 2020
New gene therapy trial for dry AMD
Gyroscope Therapeutics just launched its SCOPE study for patients with late-stage dry age-related macular degeneration (AMD) in the UK. This study is looking to understand how geographic atrophy (GA) progresses in people who have specific genetic markers for dry AMD.
Gyroscope are aiming to genotype around 10,000 participants with GA. They’re looking for people with a specific mutation in the CFI gene, which is involved in the inflammation pathway. Mutations in this gene are associated with increased risk of dry AMD.
People with the specific gene variant may be selected to take part in a gene therapy trial looking to slow the progression of dry AMD, called FOCUS.
Interested patients can find out more by calling the freephone number 01438 532142.
App puts rare eye disease patients in control of their data
People with rare genetic macular dystrophies are often moved between many different eye health providers before receiving a formal diagnosis.
MyEyeSite is an app that will collect all the information eye clinics have on a patient’s condition, including eye scans, genetic diagnoses and eye health checks.
This means that patients don’t have to give the same information each time they see a new doctor, can understand their disease better, and feel more in control.
The app also collects anonymised data about rare eye diseases including eye scans and eye health history. This data could provide great insight into rare diseases which would normally be spread throughout the NHS, and be very difficult to collate.