The University of Massachusetts Medical School has recently announced preliminary results from their trial for Tay-Sachs disease. This trial is investigating a gene therapy and researchers are excited about it’s promise. There is a high unmet need for this disease as there is currently no cure.
This particular trial is so important and so exciting because it is the first time that the therapy has been tested in humans.
About the Trial
This therapy is inserted directly into the brain. At UMass, two children with the condition were treated and they both have shown signs that disease progression has been modified.
The first patient has advanced disease. Although they sadly haven’t had any improvement in their functioning, there have been notable biochemical changes within the brain. This indicates that the missing enzyme which causes Tay-Sachs has been at least partially re-created.
The second patient has not experienced any further degeneration since receiving the therapy.
Both patients had the therapy inserted using a robotic arm and careful computer modeling. The procedure took 2 hours. They were both given immunosuppressive drugs so that their bodies wouldn’t reject the treatment. Their families were nervous about the procedure but with no other way to treat the illness, they knew the risk was warranted.
Researchers are hopeful about these results but they say its too soon to know if the life expectancy of these two patients will be improved as a result of the therapy.
It’s important to note that neither of the patients in this trial had any known hereditary risk. Neither had Ashkenazi Jewish heritage. This is why its so important for diseases like Tay-Sachs to be included in newborn screening programs.
As for the gene therapy, you’re probably wondering- what are the next steps?
An investigational new drug proposal has already been submitted to the FDA. Researchers are planning the start of a Phase 2 trial within the next couple of months. It has not been stated yet however what the inclusion criteria for this trial will be. It will be held at UMass Memorial Hospital with evaluations occurring at Massachusetts General Hospital.
Researchers are optimistic but reserving their excitement until more is known about the potential of this gene therapy. They know there’s still a long road ahead. But they’re determined to fight.
You can read more about this therapy and who is involved in it’s study here.