A scientist who is in a race against time to find a cure for her daughter’s rare and deadly disease says they are “finally in the driver’s seat”.
Dr. Michelle Teng is working to develop the world’s first treatment for TUBB4a leukodystrophy before it is too late for her 12-year-old daughter Sofia.
This life-threatening genetic disorder affects the central nervous system and can result in an inability to walk, speak or even swallow. Most young patients die before reaching adulthood.
Sophia started experiencing symptoms as a toddler and was eventually diagnosed with the disease at the age of four.
“When we Googled the situation, it was a horrible experience,” recalls Michele.
“If you read the worst-case scenario, the kids die within 12 months.
“exist [Sofia’s] Case in point, it’s a slow neurodegenerative disease. Obviously, I don’t know, I don’t know how long she’s going to live.
“The doctors told us there’s nothing you can do, and I think that’s probably the most devastating news any parent will ever hear.”
“It’s a ticking time bomb”
But the diagnosis prompted Dr. Teng to take action. At first, she raised money for research because it was 2014 and the disease was just being identified.
But as Sofia’s condition started to deteriorate to the point where she is now unable to walk or talk, Michelle realized she needed to do more.
“Anyone who’s ever lived with a loved one with Parkinson’s, Alzheimer’s, or any degenerative disease will find that it’s a ticking time bomb,” she said.
“It’s a steady decline, and as the years go by, you see your loved ones start to lose the ability to do certain things.
“We’ve raised close to £200,000 in a short period of time, which is very encouraging, but to actually find a cure and bring that into the clinic, it’s going to take £5-10 million and I realize that’s the way to go. If it doesn’t work, cut the mustard.”
“You have to be an optimist”
So, in April 2021, Dr. Teng founded SynaptixBio, a biotech company in Oxford, with the sole aim of finding a cure for TUBB4a.
The company recently signed a global license agreement with Children’s Hospital of Philadelphia, USA – the world’s leading center for TUBB4a leukodystrophy – to accelerate the research process.
It aims to start clinical trials of the treatment in 2024.
“I feel like because we started this company, we’re finally in a leadership position in finding a cure,” said Dr Teng. [Sofia]within the schedule we thought she would be on time.
“When you work in biotech, you have to be an optimist.”
Research shows that 1,650 babies worldwide are born with TUBB4a each year. In the UK it is thought to affect 60-90 newborns.
But scientists worry that the number of cases could be higher because many patients are misdiagnosed with other conditions such as cerebral palsy.
Rare Disease Patients Expect Better Treatment
New drug gives lifeline to 1,600 women
DecemberParents ‘frozen’ to keep their disabled kids ‘alive’
The combination of symptoms makes it difficult to detect. The only way to confirm the disease is through genome sequencing and MRI scans.
Dr. Dan Williams, SynaptixBio’s chief executive and co-founder, called the treatment the company is developing has the potential to be a “game changer.”
“One of the scariest things is that a lot of these kids don’t actually grow up,” he said.
“Hopefully by stopping the progression of this disease, it can give them a better quality of life and prolong their lives.”