1. Use the following CASE to answer questions 1–5.
Patient OR is a 7-month-old girl from Oregon who presents after her parents noticed that she is missing developmental milestones (is not yet able to sit on her own). Upon further investigation, OR was found to have a mutation of an exon 7 deletion on the SMN1 gene and 3 copies of the SMN2 gene. Her parents would like to initiate therapy with nusinersen.

Under which SMA type classification does OR fall?

2. Which supportive therapy should not be used long term for OR?

3. OR is started on nusinersen. Monitoring should include tests for

4. OR should receive nusinersen through what route of administration?

5. Risdiplam is an oral medication that has been approved for use in patients of what age?

6. The parents of one of your patients are considering therapy with onasemnogene. The provider asks you about adverse effects and monitoring. Which of the following laboratory tests will not need to be monitored with onasemnogene use?

7. Use the following CASE to answer questions 7–10.
HG is a 3-year-old boy with SMA type 3. He is currently receiving treatment with intrathecal nusinersen at a maintenance dose of 12 mg.

Based on his age, HG could participate in which of the following ongoing nusinersen trials?

8. HG's parents want to discuss switching to oral therapy with risdiplam. HG's parents should be counseled about

9. HG's parents wants to know what other therapies are being studied for SMA treatment. Which of the following agents have potential to further expand the treatment landscape for patients with SMA?

10. Your institution has seen an increase in patients with SMA and is now considering adding onasemnogene to formulary. You have been tasked with implementing policies and procedures surrounding the use of onasemnogene. Which of the following resources will be helpful in navigating this process?

Evaluation Questions

11. How confident are in your treatment choice for OR in the questions above?

12. How confident are in your treatment choice for HG in the questions above?

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