NEW DELHI New Delhi: A team of Canadian researchers has discovered an existing US Food and Drug Administration-approved drug that can significantly improve the quality of life of patients suffering from Sandhoff and Tay-Sachs diseases – two rare genetic disorders. . Sandhoff and Tay-Sachs diseases cause progressive damage to nerve cells in the brain and spinal cord. There is currently no cure for both disorders. After years of investigating the underlying mechanisms of diseases, research at McMaster University identified a potential therapeutic compound: 4-phenylbutyric acid (4-PBA). 4-PBA is an FDA-approved drug that was initially developed for another condition.

Suleiman Ighdoura, a professor of biology and pathology at the university, said Sandhoff and Tay-Sachs “are devastating diseases marked by the gradual loss of motor functions – from sitting, standing and swallowing to breathing – because neurons in the nervous system die”. In the study published in the journal Human Molecular Genetics, the team tested 4-PBA in a mouse model of the disease. The results showed that 4-PBA significantly improved motor function, extended lifespan, and increased the number of healthy motor neurons.

Tay-Sachs disease, the more common of the two disorders, usually appears within the first year of life, progresses rapidly and often proves fatal within a few years. In rare cases, Tay-Sachs and Sandhoff Symptoms of the disease appear in childhood or even early adulthood, progress more slowly and provide a longer – but still very challenging – life.

“Patients often require intensive hospital care as symptoms worsen, and our current treatment options are severely limited,” Igdoura explains. “But now, there is hope.” The team focused on late-onset rare diseases. They found that these originate in the spinal cord – where chronic stress on a cellular component called the endoplasmic reticulum triggers programmed cell death. Ighdoura said that introducing 4-PBA for “off-label use” could help these patients. A ray of hope can arise and life expectancy and quality of life can improve.” He said the findings could have broader implications, potentially informing research on other neurodegenerative diseases like Alzheimer's and ALS.