rare-disease
11 stories tagged "rare-disease"
GenSight's Blindness Gene Therapy Reached the NEJM on the Same Day It Reported €0.7 Million in Cash
Seven of ten patients blinded by retinitis pigmentosa sensed more light through special goggles after one gene injection, in an uncontrolled trial whose sponsor held €0.7 million on September 30 and warned it may not survive the year.
Drugs & FDAOne Hormone Starves the Brain and Floods the Heart: The FDA's First MCT8 Drug Treats Only the Flood
Emcitate is being called the first treatment for MCT8 deficiency, but its FDA label covers the racing heart and the wasting body, not the brain disability that defines the disease.
CancerA Scientist Chased One Missing Blood Marker for Twenty Years. The Answer Was a Tiny Gene Hiding in Plain Sight.
More than 99.9 percent of people carry a blood marker called AnWj. For most of the few who don't, the absence is acquired, a sign of an underlying blood disorder or cancer rather than something they were born with.
Autoimmune & InflammationThe 47th Human Blood Group Was Hiding in a Protein Almost Too Small to Find
More than 99.9% of us carry the AnWj antigen without knowing. For the rare few born without it, a routine transfusion can turn dangerous, and until now no genetic test could reliably identify them before the damage was done.
Drugs & FDAThe FDA Approved a $3.95 Million Gene Therapy It Rejected Fourteen Months Ago
In July 2025 the FDA refused to approve this Sanfilippo gene therapy and faulted the factory, not the science. Fourteen months later it is the first treatment for a fatal childhood brain disease, cleared on 17 treated children against a comparison group the maker built, at $3.95 million a dose.
Drugs & FDAThe Data on the First Sanfilippo Gene Therapy Were Ready Last Summer. The FDA Spent the Next Year on the Factory.
The FDA said Ultragenyx's clinical data were robust in July 2025, then rejected its Sanfilippo gene therapy over manufacturing questions. Approval came fourteen months later, for children who lose skills and die on a clock.
Drugs & FDAA Fatal Brain Disease in Children Finally Has a Drug, and It Lists at $1.14 Million a Year
Ionis's zilganersen is the first therapy ever approved for Alexander disease, and it lists near $1.14 million a year. The same FDA approval handed Ionis a rare pediatric disease voucher, the transferable coupon that has resold for as much as $350 million.
Drugs & FDAA $2.7 Million Gene Therapy, Approved Because Patients Needed Less Cornstarch
Ultragenyx's Genglycos won accelerated approval on a surrogate: a 31 percent cut in daily cornstarch. But the disease is low blood sugar, and by the company's own numbers the treated group spent slightly more time below 70 mg/dL, while liver enzymes spiked in 71 percent and every patient needed ster
InvestigationsOne Irish Plant Releases Both of Sanofi's Pompe Enzymes. In June, the FDA Called Its Drugs 'Adulterated.'
One Irish plant runs the final release for both of Sanofi's lifelong Pompe enzymes. It just failed an FDA inspection on that exact step, and now the company says the fix could take months while patients confirm their next shipments.
Drugs & FDAA $440,000 Drug Proved This Obesity Was Never About Willpower
Brain-tumor surgery can wreck the hypothalamus and leave hunger permanently switched on. Setmelanotide restored the missing signal in a real placebo-controlled trial, then arrived priced near half a million dollars a year.
Drugs & FDAFDA's New Gene Therapy Shortcut Leans on 'Platform Knowledge.' Six Months Ago, They Revoked Sarepta's After Three Patient Deaths.
FDA's new gene therapy draft guidance invites sponsors to lean on "platform knowledge" to streamline submissions, six months after the agency revoked Sarepta's AAVrh74 platform designation following three patient deaths.