Migalastat (Galafold)

Migalastat, sold as Galafold, is a capsule for adults with Fabry disease. In Fabry disease a typo in the GLA gene leaves the enzyme that clears a fat called globotriaosylceramide missing or weak, so the fat builds up in the cells.

Some GLA typos make an enzyme that could still do its job but is misshapen, so it gets stuck before it reaches the part of the cell where it works. Migalastat holds that enzyme in shape so it can get there. Typos that leave no enzyme at all cannot be helped this way. The label calls the typos it works for "amenable" and decides which they are from lab tests.

Yes. The US label is for adults with confirmed Fabry disease and an amenable GLA typo that a clinical genetics professional judges to cause the disease. When the typo is of uncertain meaning, the label strongly recommends asking a clinical genetics professional.

One 123 mg capsule every other day, at the same time of day, never on two days in a row. No food or caffeine for 2 hours before and 2 hours after each dose. Water, juice without pulp and caffeine-free fizzy drinks are allowed during the fast.

It was given accelerated approval because it lowered the fat stored in small blood vessels of the kidney. The label says continued approval may depend on confirmatory trials showing a clinical benefit.

The label does not recommend it for people with severely reduced kidney function (eGFR below 30) or on dialysis, because it has not been studied there and the body clears it through the kidneys. It is not known whether it is safe and effective in children.