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Case Study: Managing Spinal Muscular Atrophy
A Certified Rare Disease Pharmacist (CRDP) Case Study
The Scenario
You are a Certified Rare Disease Pharmacist at a specialty pharmacy. You receive a new prescription for a 5-year-old child with Spinal Muscular Atrophy (SMA) Type 2. The child has been receiving intrathecal nusinersen injections every four months, which requires sedation and a hospital visit. The neurologist is now switching the patient to the new oral therapy, risdiplam. The child's parents are anxious about the change and have many questions. Your role is to provide expert counseling on the new medication and coordinate the transition of care.
Data Sets
Table 1: Patient & Prescription Information
| Parameter | Details |
|---|---|
| Diagnosis | Spinal Muscular Atrophy (SMA) Type 2 |
| Previous Therapy | Nusinersen intrathecal injections |
| New Prescription | Risdiplam (Evrysdi®) 0.75 mg/mL Oral Solution |
Table 2: Excerpt from Risdiplam Product Information
Key Product Information:
- Mechanism of Action: Risdiplam is a survival of motor neuron 2 (SMN2) pre-mRNA splicing modifier. It works by helping the SMN2 "backup" gene produce more functional, full-length SMN protein, which is deficient in patients with SMA.
- Administration: Must be administered once daily after a meal, at approximately the same time each day. Use the provided reusable oral syringe. Do not mix with milk or formula.
- Storage & Handling: Supplied as a powder that must be constituted by the pharmacist before dispensing. The constituted solution must be refrigerated and is stable for 64 days.
- Cost: This is an ultra-high-cost medication, requiring extensive benefits investigation and prior authorization before dispensing.
Your Task
1. Why is the switch from intrathecal nusinersen to oral risdiplam a significant improvement in the quality of life for this patient and their family?
Answer:
The switch significantly **reduces the treatment burden**. Nusinersen requires an intrathecal injection (a lumbar puncture) every four months, which is a painful, invasive procedure that must be done in a hospital and often requires sedation for a young child. Risdiplam is a once-daily oral liquid that can be given at home. This change eliminates the need for repeated hospital procedures, sedation, and the associated travel and stress for the family.
Insight:
For rare diseases, the pharmacist's role often involves helping families navigate extremely complex and burdensome treatment regimens. Understanding the impact of the dosage form and administration process on a family's quality of life is a key aspect of patient-centered care in this specialty.
2. What is the mechanism of action for risdiplam?
Answer:
Risdiplam is an **SMN2 splicing modifier**. In SMA, the primary gene for survival motor neuron protein (SMN1) is missing or mutated. Humans have a "backup" gene called SMN2, but it normally produces very little functional protein. Risdiplam works by modifying the splicing of the SMN2 gene's messenger RNA, causing it to produce more full-length, functional SMN protein, which helps to preserve motor neuron function.
Insight:
A Certified Rare Disease Pharmacist must be an expert in the novel and often complex mechanisms of the drugs used to treat these conditions. Being able to explain how a drug works at a genetic level is essential for educating other healthcare providers and for answering detailed questions from highly engaged patient families.
3. What is the most critical operational step the pharmacy must complete before this medication can be dispensed for the first time?
Answer:
The most critical step is completing the **benefits investigation and prior authorization** process. Risdiplam is an ultra-high-cost medication, and no pharmacy can dispense it without first securing approval and reimbursement from the patient's insurance provider. This is a complex and time-consuming process that is a core function of the specialty pharmacy.
Insight:
The pharmacist's role in rare disease extends beyond clinical knowledge to include expertise in the healthcare reimbursement landscape. Managing the financial aspects and navigating the prior authorization process is often the biggest barrier to access for these life-changing therapies, and the pharmacist is central to overcoming it.
4. Propose three key counseling points to provide to the child's parents.
Answer:
The counseling should focus on proper administration, storage, and the importance of consistency.
Proposed Counseling Points:
- 1. Administration: "This medication needs to be given once a day, after a meal, and at about the same time each day. It's very important to use only the special oral syringe that comes with the medicine to draw up the exact dose. Do not mix it with milk or formula, as that can affect the medicine."
- 2. Storage: "After I mix the powder into a liquid for you, the bottle must be kept in the refrigerator at all times. It is only good for 64 days after I mix it; the expiration date will be clearly marked on the bottle."
- 3. Adherence: "Because this medicine helps your child's body make an important protein every day, it is crucial that he does not miss any doses. Consistency is key to getting the full benefit of the treatment. Please call us a week before you run out so we can coordinate your next refill."
Insight:
For a high-cost, high-stakes medication like risdiplam, counseling is not just about side effects; it's about ensuring the drug is handled and administered perfectly to maximize its benefit. A CRDP provides detailed, practical instructions that empower caregivers to manage these complex therapies safely and effectively at home.
