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FDA approves the first therapy that changes Sanfilippo's course
Children aged two to five held onto cognitive function they would otherwise have been losing, and on September 17 that became an approved medicine.
Sanfilippo syndrome type A, also written MPS IIIA, works like a garbage strike inside a cell. A missing enzyme means long sugar chains the body routinely breaks down instead pile up, including in brain cells, and the child slowly loses skills they had already learned. It is fatal, it is inherited, and until this week every available option managed symptoms while the underlying strike went on.
On September 17 the FDA approved Fayuvi, generic name rebisufligene etisparvovec-hopf, from Ultragenyx. It is a gene therapy, meaning the treatment delivers a working copy of the broken gene so the cell can make the enzyme itself rather than waiting for a delivery from outside.
The number that matters is not a lab value. In the pivotal trial, treated children aged two to five maintained or improved cognitive function against an untreated comparison group that, in that exact window, would normally be going backward. Holding still is the achievement. This is the first therapy shown to alter the disease's course rather than soften its edges.
The caveat, stated plainly because the approval rests on it: the trial was open-label and compared treated children against an untreated historical-control cohort rather than a randomized placebo group. That is a reasonable design for a rare fatal childhood disease, where randomizing children to nothing is hard to defend, and it is also a looser form of evidence than a blinded trial. Both things are true.
It is also the second Ultragenyx approval this paper has logged in two issues, which is the more quietly astonishing fact: a pipeline, not a one-off.
Read the original at FDA →