WALLA WALLA — On a snowy day in January a Walla Walla teen saw snowflakes for the first time.
Eliza Van De Rostyne and her two children were leaving their house as soft, feathery snow was falling.
Her daughter Aiden Moore-Van De Rostyne and her mother were both laughing with joy as the mom quickly started recording a first for Aiden.
“I saw some big snowflakes,” says her daughter, Aiden, grinning.
“You could see some of the big snowflakes? That is so cool, Aiden,” her mom says.
Her daughter had never seen then before, her mom told the Tri-City Herald.
It was “cool,” Aiden said.
Aiden was born with a rare genetic condition, Leber congenital amaourosis, or LCA, that has robbed her of most of her eyesight.
But a year ago she she received an experimental gene therapy treatment through Oregon Health & Science University in Portland in one eye.
She was one of 15 people in the United States enrolled in an early clinical study sponsored by Atsena Therapeutics. It is the first human experiment to see if gene therapy could improve the sight in a specific type of LCA.
The early results for patients like Aiden who received the highest dose of the gene therapy are promising.
“Aiden being able to see a snowflake for the first time offers a wonderful, real-life account of gene therapy’s potential benefits,” said Dr. Paul Yang, an associate professor of ophthalmology in the OHSU School of Medicine.
“It’s extra special to make an impact on a patient such as Aiden who has her whole life ahead of her,” he said. Most of the participants in the clinical study were adults.
LCA causes about one in 50,000 babies to be born legally blind or lose most of their vision as children, according to OHSU.
Aiden was diagnosed with the condition at 6 months old, but her mother knew that she wasn’t seeing normally months earlier, she said.
She has been able to differentiate between light and dark through her childhood, but sunshine or other bright light overwhelms her and prevents her from seeing anything.
To identify a shape or letter on a piece of paper, she has relied on touching her nose to the paper to get her eyes close enough to see it.
At Walla Walla High School, Aiden, who is developmentally delayed, relies on a cane and the help of a paraeducator to translate worksheets into braille.
Band is the best part of school, Aiden said. She is part of the percussion section.
One type of LCA has had a gene therapy available since 2017, but it targets a different gene than the ones that have led to Aiden’s vision impairment.
But last year her family learned through her OHSU Casey Eye Institute health care team about the new trial targeting gene mutations like Aiden’s.
“Gene therapy works by delivering a good copy of the faulty gene to the retina,” Yang said. “By doing so hopefully you jump start the retina to start working more normally.”
Aiden tells her mother that she was brave to participate in the clinical trial and help other people. Surgery was a little scary, she agreed with her mom.
But now she says she’s a superhero, like The Incredibles movie characters she loves, according to her mom.
“We’re a family that really respects the scientific process,” said her mother.
And it paid off.
Her paraeducator has noticed that she has been bumping into fewer objects at school since the treatment.
She has told her mother that she can see more detail in her mom’s face. And she can read more letters on an eye chart. She also doesn’t need to hold her face quite as close to paper when she draws.
Most of the improvement happened in the first few months after surgery.
“As a mom, I worry about my daughter’s safety,” Eliza said. “Already, the sight she’s gained helps her be more safe and be more independent. That’s so important and very comforting.”
Aiden and other clinical trial participants will be followed for another four years to monitor their vision and her overall health.
More complete trial results will be shared later this month at the Association for Research in Vision and Ophthalmology’s meeting.
