A rare childhood disease called Sanfilippo syndrome now has an approved gene therapy, the first one in the disease's history. Gene therapy, in plain terms, is a treatment that introduces corrected genetic material into a patient's cells to fix the underlying cause of a disease rather than treating its symptoms. This approval marks the end of a process that took more than a decade to complete.
That decade carries a heavy human weight. Many children with Sanfilippo syndrome declined or died while their families waited for a treatment to clear the regulatory process. A journalist who tracked this therapy's development from its very beginning described feeling grief at this reality, and noted something especially painful about the pattern of rare-disease advocacy: families who spend years pushing research forward often do so knowing their own children will not live long enough to benefit. The therapy they helped bring to approval becomes, in the end, a treatment for a future patient who is not their own child. Science takes time, this reporter acknowledged, even as biotech works toward better outcomes.
The approval now in place changes the picture for families receiving a Sanfilippo syndrome diagnosis going forward.
Other developments in biotech
A rare gene variant has been identified as connected to dramatically heightened lung cancer risk in people who have never smoked.
The nominee to lead the U.S. Food and Drug Administration, the federal agency that reviews and approves drugs and medical treatments in the United States, faces a confirmation hearing in the near term.
Roche, the pharmaceutical company, is expanding its presence in Boston with a new research center.