Scientists ‘finally in the driver’s seat’ to find a cure for daughter’s rare disease TUBB4a leukodystrophy

A scientist who is in a race against time to find a cure for his 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 drug to treat TUBB4a leukodystrophy before it’s too late for her 12-year-old daughter, Sofia.

The life-threatening genetic disorder affects the central nervous system and can lead to the inability to walk, talk or even swallow. Most young patients die before adulthood.

Sophia started showing symptoms as a toddler and was eventually diagnosed with the disease at the age of four.

“When we googled the condition, it was a horrible experience,” recalls Michelle.

“If you read the worst-case scenario, children will die within 12 months.

“exist [Sofia’s] case, which is a slow neurodegenerative disease. Obviously, I don’t know and I don’t know how long she will live.

“The doctors told us there was nothing you could do, which I think is probably the most devastating news any parent has ever heard.”

Sophia Teng

“It’s a ticking time bomb”

But the diagnosis prompted Dr. Teng to take action. At first, she raised money for research because in 2014, the disease was just being defined.

But as Sophia’s condition began to deteriorate to the point that she was now unable to walk or speak, Michelle realized she needed to do more.

“Anyone living with a loved one with Parkinson’s, Alzheimer’s or any degenerative disease will see this as a ticking time bomb,” she said.

“It’s a steady decline, and as the years go by, you’ll 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 this treatment to the clinic, it’s going to take anywhere from $5 to $10 million, and I realised it wasn’t going to work. mustard.”

Sophia Teng

“You have to be an optimist”

So in April 2021, Dr. Teng founded SynaptixBio, a biotech company in Oxford, with the sole goal of finding a cure for TUBB4a.

The company recently signed a global licensing agreement with the Children’s Hospital of Philadelphia, USA, the world’s leading center for TUBB4a leukodystrophy, to expedite the research process.

It aims to start clinical trials of the treatment in 2024.

Dr Teng said: “I feel that because we started this company, we are finally looking for a treatment. [Sofia]within those timelines where we believe she will arrive on time.

“When you work in biotech, you have to be an optimist.”

Sophia Teng

‘Game changer’

Research shows that 1,650 babies are born with TUBB4a every year around the world. In the UK it is thought to affect 60-90 newborns.

But scientists worry that the number of cases could be even higher because many patients are misdiagnosed with other conditions, such as cerebral palsy.

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The combination of symptoms makes it difficult to spot. The only way to confirm the disease is through genome sequencing and MRI scans.

SynaptixBio CEO and co-founder Dr. Dan Williams said the company is developing a potential “game-changer.”

“One of the scariest things is that many of these kids don’t actually make it into their teenage years,” he said.

“Hopefully by stopping the progression of the disease, it can provide them with a better quality of life as well as prolong their lives.”

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