Researchers at the University of Massachusetts have unveiled a possible breakthrough in treating Tay-Sachs disease, a neurodegenerative genetic disorder that predominantly afflicts Ashkenazi Jews.
Preliminary data from a clinical trial presented at a conference in Barcelona last week showed that a new medicine in development successfully slowed the rate of the rapidly spreading disease in two infant patients.
UMass medical school dean Dr. Terence R. Flotte said the new gene therapy appeared to stabilize their condition with no negative effects, particularly the younger of the two, a 7-month-old baby girl suffering from infantile Tay-Sachs.
“It seems right now that she’s not degenerating,” Flotte told public radio station WBUR on Thursday. “But I would say it’s too early to say that definitively.”
Flotte said that based on the encouraging results of the infant’s MRI scans, a full clinical trial in conjunction with the Axovant pharmaceutical company would commence in the near future.
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Flotte underscored the treatment is complicated and dangerous as it requires the vector (a lab-engineered virus) to be injected directly into the patient’s brain.
According to Flotte, the UMass trial marked the first time human patients were injected directly into the thalamus. He said previous studies that featured similar intra-thalamic injections were only performed on sheep, cats and mice.
“It is somewhat risky, but when you’re dealing with the infantile form of Tay-Sachs, it’s so tragic that it warrants a rather risky approach,” he said.
“This innovative delivery could overcome one of the primary challenges for developing treatments for Tay-Sachs, Sandhoff and many other severe pediatric genetic disorders, providing much needed hope for these families.”
Tay-Sachs disease is a rare, fatal genetic disorder that progressively destroys nerve cells in the brain and spinal cord.
In most cases the disease becomes apparent in infants around three to six months of age, when their development slows and muscles weaken. Infants at first lose the ability to turn over, sit and crawl, and then experience seizures, vision and hearing loss, intellectual disability, and paralysis.
Babies born with Tay-Sachs usually die by the age of 4.
Tay-Sachs is fairly rare in the general population. However the condition is more common among certain groups — including Ashkenazi Jews, the Old Order Amish in Pennsylvania and the Cajun community of Louisiana.
According to the National Organization for Rare Disorders, one in 30 Ashkenazi Jews is a recessive carrier of the mutated gene.
Up until the 1970s when screenings for genetic disorders were introduced, 50 to 60 Jewish children in the US and Canada were born with the fatal disease each year.
The number has seen a steep decline since then thanks to medical advancement and community activism that brought screening for the disease into synagogues, Jewish community centers and, eventually, routine medical care.
As of 2017, NORD said that that about 1 in 3,600 live births in the North America Ashekanzi community was affected.