The FDA has issued Complete Response Letters blocking the approval of drugs for patients with terminal diseases, even when good safety data exists and patients in trials show meaningful benefit. This has left those suffering from diseases like Duchenne muscular dystrophy, advanced cancers, and Sanfilippo syndrome wondering what’s next. A coalition of patient advocacy organizations supported by more than 43,000 signatories called on FDA Commissioner Dr. Martin Makary and agency leaders to prioritize the advancement of promising therapies for Sanfilippo syndrome, Barth, and Hunter syndrome.
In the world of rare illnesses and late-stage cancers, any unnecessary delay can harm patients and cast aside future development of transformative therapies because the company may no longer have enough financing to wade through protracted regulatory timelines. Even when drug companies are able to weather the delays, many patients will have irreversibly deteriorated or died because an approved treatment was not available in time. Drug development delays affect real families, as seen in the case of Eliza, who was diagnosed with Sanfilippo syndrome at three and a half years old.
Eliza was the first to receive UX111 treatment at six years old, and today, she is outliving the average life expectancy for Sanfilippo A (15 years) and regaining non-verbal communication skills, jumping on trampolines at the bounce park, and using a fork to eat at an age at which most patients require a g-tube for nutrition. Another child who received a higher dose of UX111 treatment at two years old is showing even more dramatic benefit, now 10, reading, playing on a softball team, and hanging out with her friends.
Published research from organizations like Cure Sanfilippo Foundation demonstrates that rare-disease families are willing to accept higher risks and uncertainty when it comes to treatments for devastating conditions. In Sanfilippo syndrome, parents want the autonomy to make individual risk-benefit decisions with their child’s doctor and not have their options limited by lack of drug approvals.
The FDA must ensure that its commitment to safety and efficacy is balanced with the urgency of patient need and the relentless progression of serious rare diseases. Action is needed now to prevent more life-saving therapies and patients who need them from falling through the cracks.
