CSP CSP - Certified Specialty Pharmacist Clinical Management: Neurology and Rare Disease Questions and Answers 2 — Questions and Answers
Question 1: A patient with phenylketonuria (PKU) is prescribed sapropterin (Kuvan). What is the standard method to assess response to this therapy?
- Brain MRI at 6 months
- Blood phenylalanine level measured after a 1-month therapeutic trial (Correct answer)
- Urine amino acid panel weekly
- Genetic testing to confirm PAH mutation type before continuing
Correct answer: Blood phenylalanine level measured after a 1-month therapeutic trial
Response to sapropterin is determined by measuring blood phenylalanine levels after a 1-month trial; only patients who respond (defined as a ≥30% reduction in phenylalanine) should continue therapy.
Question 2: Which therapy for Duchenne muscular dystrophy (DMD) requires a specific exon-skipping amenable mutation for eligibility, making genetic testing essential before dispensing?
- Corticosteroids (prednisone)
- Eteplirsen (Exondys 51) (Correct answer)
- Creatine supplementation
- ACE inhibitors for cardiac protection
Correct answer: Eteplirsen (Exondys 51)
Eteplirsen is indicated specifically for patients with a confirmed mutation amenable to exon 51 skipping; genetic testing is mandatory to confirm eligibility before the specialty pharmacy can process the prescription.
Question 3: A specialty pharmacist receives a prescription for edaravone (Radicava) for ALS. What is the MOST important logistical consideration for this therapy?
- The drug must be administered at a hospital inpatient unit
- The therapy requires IV infusion in cycles and coordination with an infusion center or home infusion service (Correct answer)
- The drug is self-administered orally once daily with no special handling
- The prescription requires DEA Schedule II documentation
Correct answer: The therapy requires IV infusion in cycles and coordination with an infusion center or home infusion service
Edaravone is administered as IV infusions in 28-day cycles (10 infusions per cycle initially); the specialty pharmacy must coordinate with infusion centers or home infusion providers for ongoing access.
Question 4: For patients with Fabry disease receiving agalsidase beta (Fabrazyme), which adverse effect requires pharmacist patient education BEFORE each infusion?
- Photosensitivity requiring sunscreen application
- Infusion-associated reactions including fever, chills, hypertension, and urticaria (Correct answer)
- Severe hepatotoxicity requiring liver function monitoring
- Nephrotoxicity requiring dose adjustment based on eGFR
Correct answer: Infusion-associated reactions including fever, chills, hypertension, and urticaria
Infusion-associated reactions are among the most common adverse effects with agalsidase beta; patients should be premedicated and counseled to report symptoms such as fever, chills, and skin reactions during infusion.
Question 5: Which of the following best describes the role of a CSP in managing a patient on ozanimod (Zeposia) for relapsing MS who develops macular edema?
- Advise the patient to continue the drug and schedule routine ophthalmology follow-up in 1 year
- Recommend drug discontinuation and coordinate urgent ophthalmology evaluation, notifying the prescriber immediately (Correct answer)
- Switch the patient to a different S1P modulator without prescriber involvement
- Recommend over-the-counter lubricating eye drops and monitor symptoms
Correct answer: Recommend drug discontinuation and coordinate urgent ophthalmology evaluation, notifying the prescriber immediately
Macular edema is a serious, vision-threatening adverse effect of ozanimod that requires prompt discontinuation and urgent ophthalmology evaluation; the CSP must notify the prescriber immediately.
Question 6: When a specialty pharmacy is evaluating a prescription for ataluren (Translarna) for DMD, which condition would make the patient INELIGIBLE for this therapy?
- Age under 5 years
- Non-sense mutation in the dystrophin gene (Correct answer)
- Patient is ambulatory
- Concurrent use of oral corticosteroids
Correct answer: Non-sense mutation in the dystrophin gene
Ataluren works specifically for non-sense (stop codon) mutations in the dystrophin gene; patients without this mutation type would not benefit and are not candidates for therapy.
CSP CSP - Certified Specialty Pharmacist Clinical Management: Neurology and Rare Disease Questions and Answers 2
A patient with phenylketonuria (PKU) is prescribed sapropterin (Kuvan).
What is the standard method to assess response to this therapy?