A team of Canadian researchers has discovered a drug currently approved by the US Food and Drug Administration that could significantly improve the quality of life for patients affected by two rare genetic disorders – Sandhoff and Tay-Sachs diseases.
Sandhoff and Tay-Sachs diseases cause progressive damage to nerve cells in the brain and spinal cord.
There is currently no cure for both diseases.
After years of investigating the underlying mechanisms of the disease, McMaster University research 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 characterized by the progressive loss of motor functions – from sitting, standing and swallowing to breathing – as neurons in the . The nervous system dies.”
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 is often fatal within a few years.