Thousands of patients could have rare life-threatening diseases without knowing it, experts warn

TUBB4a leukodystrophy - an incurable genetic condition that damages the central nervous system and can be deadly to babies and young children

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New Delhi: Thousands of patients could unknowingly suffer with a rare life-threatening disease, experts have warned.
TUBB4a leukodystrophy – an incurable genetic condition that damages the central nervous system and can be deadly to babies and young children – was initially thought to only affect 200 people worldwide.
However, the latest research suggests the figure could be far higher than first thought.
According to the Cleveland Clinic in the US, leukodystrophies affect 1 in 7,663 births. With about 140m children born globally in 2021, that would mean more than 18,000 could have leukodystrophy – and almost 1,650 with TUBB4a – last year alone.
Dr Dan Williams, CEO and co-founder of biotech firm SynaptixBio, which aims to develop the world’s first treatment for the debilitating disease, said the actual number of TUBB4a sufferers could be higher still.
“One of the key issues with diagnosing a condition like TUBB4a is that it is incredibly hard to spot. It requires intensive genome sequencing and MRI scans to correctly identify,” he said.
“It can also appear similar to other more commonly-known conditions, such as cerebral palsy or multiple sclerosis. Unfortunately, it is easy to see how signs can be missed.
“It is vital that our understanding of the disease improves rapidly. While it remains a relatively rare condition, there is clearly a greater need to find a treatment than initial estimates would have us believe.”
First identified in 2014, TUBB4a leukodystrophy makes up 9% of a group of about 50 rare neurodegenerative disorders known as leukodystrophies.
Caused by a mutation in the TUBB4a gene, it disrupts signals being relayed between nerve cells in the brain.
Patients can suffer from difficulties walking, sitting up and swallowing.
They can also develop seizures, muscle contractions, hearing and speech difficulties, and uncontrollable limb movements, while others who have developed motor skills in early childhood can regress.
SynaptixBio co-founder and chief science officer Dr Michelle Teng, who diagnosed her daughter Sofia, 11, with a severe form of TUBB4a known as H-ABC, called for greater access to diagnostic testing for potential patients.
“I was very fortunate to have been able to perform the tests Sofia needed,” she said. “It is such a complex and costly process.
“We need to ensure patients with this disease are correctly tested to ensure they receive the right care.
“There are currently significant barriers for people with this condition to be diagnosed properly. That is something that needs to change dramatically over the coming years.”
Meanwhile, SynaptixBio, which launched last year, is working on a new therapy it hopes will “revolutionise” how TUBB4a leukodystrophy is treated.
Antisense Oligonucleotides (ASOs) therapy, which has previously been used to treat conditions such as Duchenne muscular dystrophy and spinal muscular atrophy, is also hoped to dramatically improve the quality of – and extend – the lives of leukodystrophy patients.
Dr Willams said the treatment had the potential to “modify the disease, increase survival rates and significantly improve motor skills development.
“The new approach provides the potential to stabilise, improve quality of life and extend life expectancy in children suffering from the condition.
“Successful prevention of leukodystrophy progression would be a revolutionary life-saving and life-enriching treatment for children around the world.”
TUBB4a leukodystrophy is caused by damaged brain function, which can lead to developmental delays in motor skills such as walking, sitting, speaking and swallowing, learning difficulties, seizures, paralysis and an early death.
Research has already begun, with the firm aiming to launch clinical trials in 2024.
“This project will change people’s lives,” Dr Williams said. “The research and development of a clinically-proven treatment for TUBB4a would be a real game-changer for patients and their families.
“There is a real chance to improve the lives of leukodystrophy sufferers. We want to ensure that dream becomes a reality.”