Biotech firm SynaptixBio has entered into a licensing agreement with the Children’s Hospital of Philadelphia, also known as CHOP, to develop a treatment for TUBB4a leukodystrophy, a rare and fatal neurodegenerative disorder.
The license, which includes global patent rights, allows the United Kingdom-based firm to advance CHOP’s research to clinical trials in coming years.
“This landmark agreement will enable SynaptixBio to develop and commercialize CHOP’s patents and research related to the treatment of TUBB4A leukodystrophy,” SynaptixBio co-founder and CEO Dan Williams, PhD, said in a company press release. “We are naturally delighted to be working with CHOP on this extremely important project, which aims to accelerate the research and development of the world’s first treatment for the disease.”
In 2015, Adeline Vanderver, MD, attending physician and program director of the Leukodystrophy Center of Excellence at CHOP, identified the neurodegenerative disorder, which makes up 9% of a group of 30 rare neurodegenerative disorders known as leukodystrophies, according to the release.
Leukodystrophies affect one in 7,663 births (Bonkowsky et al.). Roughly 140 million children were born globally in 2021, meaning more than 18,000 could potentially have leukodystrophy and almost 1,650 with TUBB4a.
TUBB4a disrupts myelin surrounding the nerves, due to a mutation in the gene itself. This leads to an interruption of signals between the nerve cells in the brain. When severe, the condition can lead to impairment of motor skills such as walking, sitting up and swallowing.
Patients can also develop seizures, muscle contractions, hearing and speech difficulties, and uncontrollable limb movements. The condition often leads to early death for those who develop the mutation.
CHOP has identified antisense oligonucleotides (ASOs) as a potential treatment for the disease. ASOs have been previously used to treat Duchenne muscular dystrophy and spinal muscular atrophy, according to the release.
“ASOs provide the potential to stabilize, improve quality of life and extend life expectancy of children suffering from the condition,” Vanderver said in the release. “Successful prevention of leukodystrophy progression would be revolutionary, life-saving and life-enriching.”
The company said it aims to launch clinical trials in 2024. Healio