1. Dalal, Kavitha S. PharmD
  2. Bridgeman, Mary Barna PharmD, BCPS, BCGP

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CAN YOU IDENTIFY medications used to treat certain rare diseases? To find out, match each brand name in Section I with its generic name in Section II.


Section I

______ 1. Galafold (Amicus)


______ 2. Onpattro (Alnylam)


______ 3. Palynziq (BioMarin)


Section II

a. patisiran. This medication is used to treat the polyneuropathy of hereditary transthyretin-mediated amyloidosis in adults. Administered I.V., it is infused over 80 minutes. To reduce the risk of infusion-related reactions, premedication with a corticosteroid, acetaminophen, and an antihistamine is recommended 60 minutes prior to drug administration. To prevent vitamin A deficiency, supplementation with the recommended daily allowance of vitamin A is indicated during therapy.


b. migalastat. Administered orally, this medication is used to treat confirmed diagnosis of Fabry disease and an amenable galactosidase alpha gene variant based on in vitro assay data. Fabry disease is a genetic lysosomal storage disorder that damages blood vessels, nerves, skin, and internal organs. Migalastat is taken once every other day at the same time of day; teach patients not to take it on 2 consecutive days. The most common adverse reactions are headache, nasopharyngitis, urinary tract infection, nausea, and pyrexia.


c. Pegvaliase-pqpz. Given via subcutaneous injection, this drug is indicated to reduce blood phenylalanine concentrations in adults with phenylketonuria who have uncontrolled blood phenylalanine concentrations greater than 600 micromol/L on existing management. Anaphylaxis has been reported and can occur at any time during treatment. The initial dose should be administered under the close supervision of a healthcare provider prepared to manage anaphylaxis, and patients should be monitored for 60 minutes after the injection.


Answers: 1b, 2a, 3c