“I’m so lucky,” Sophie Thomas enthuses, enough to raise an ear of her seeing-eye dog Yarra.

It’s a phrase Sophie, 45, uses a lot sitting in her inner city apartment describing living with Usher syndrome, a rare genetic condition responsible for hearing loss or deafness, gradual vision loss and, sometimes, balance problems.

Part of Usher syndrome is a hereditary eye disease called retinitis pigmentosa. The disease affects the retina, the light-sensitive layer at the back of the eye. It has no cure.

Born with severe hearing loss, Sophie has also been progressively losing her vision since her mid twenties.

But she says she is lucky to be surrounded by so many “amazing humans” – husband, family, friends, her boss and work colleagues, volunteers and ordinary kind people in the street – all making her life, and the lives of many others impacted by vision loss, a lot easier.

Sophie, a group business services manager at Clicks IT Recruitment, says her employer has “gone along this journey of vision loss with me for the past 15 years”.

“They have been fantastic and always given me every support I needed – from making sure I had all the equipment I needed to do my job to asking staff to keep their bags off the floor to reduce tripping hazards,” she says.

Sophie is also enthusiastic about a clinical trial at CERA investigating whether an antioxidant oral tablet can slow vision loss from retinitis pigmentosa.

“I am so excited about this trial,” she says.

“I am very passionate about any research that may slow down or even prevent vision loss from this terrible disease – if not for me, then for future generations of people who have Usher syndrome.

“I know I won’t get the vision I have lost back, but if they discovered a tablet that could stop me losing more vision, I would be super happy.”

Clinical Trial

The world-first clinical trial exploring if the antioxidant tablet called N-acetylcysteine amide (NACA) will slow down vision loss caused by retinitis pigmentosa is being led by principal investigator Dr Jonathan Ruddle, a Melbourne eye surgeon and CERA researcher.

It is hoped the antioxidant tablet could mitigate or even stop a harmful problem called oxidative stress in the eyes.

Oxidative stress causes damage to the photoreceptors (cells that help you see), and this can ultimately lead to vision loss.

Nearly 50 Australian adults – 12 from Victoria – are participating in the two-year trial at four sites nationally. Some participants are being given the oral tablet that may protect against oxidative stress, while others are being given placebo tablets.

The study, called Safety and Efficacy of NPI-001 Tablets versus Placebo for Treatment of Retinitis Pigmentosa Associated with Usher Syndrome (SLO RP), is sponsored by Nacuity Pharmaceuticals.

Sophie is extremely excited about what this trial might mean for people experiencing the condition.

“I was disappointed that I couldn’t join this trial in finding a cure for this horrible disease, but I am very keen to join any future trial phases or other trials,” she says.

CERA Clinical Trial Coordinator Bhaj Grewal says people in their forties like Sophie have adapted to their vision loss, and so it can be very alarming when they start losing more vision.

“Hopefully for people like Sophie in their forties we can find a treatment that will maintain the vision they have for the rest of their lives,” she says.

“And for people in their twenties hopefully it’s even more positive where we can really slow down the process, so they don’t experience such dramatic vision loss.”

This story was originally published in CERA’s 2021 Annual Review: Lighting the Way.