Emma Ciafaloni, MD and Mary Schroth, MD, FAAP, FCCP consider the importance of shared decision making for patients and families when selecting an available DMT in SMA.
Dennis Scanlon, PhD: Dr Ciafaloni, when you think about these treatment options as a clinician, the various choices, the evidence, and the route of administration, how do you approach this? How do you discuss the options with families? Is this an area of shared decision-making? That is a concept that people have been talking about in multiple clinical areas for some time.
Emma Ciafaloni, MD: I practice in a state where we are making almost all the new diagnoses of SMA [spinal muscular atrophy] at the presymptomatic stage through newborn screening, so that population is now identified very early in life. We always approach the discussion by explaining the 3 medications, especially their efficacy and safety, but the mechanism of action also plays an important role. In our experience—some data are going to be published soon about family decision-making and attitude toward this issue—the majority of families decide to go with SMN1 gene replacement, the onasemnogene, in part because of its mechanism of action to replace the gene that’s broken, so to speak. The fact that it’s a onetime treatment also helps. We also try to discuss the safety and the requirement for monitoring in the lab. There are some patients who, if they have antibodies, we might have to switch to a second choice. As Dr Stephens was saying, the discussion is very individualized for each patient. Sometimes there might be a different cultural background or family preference that we need to respect. But so far, that has been the tendency.
Like in every other disease and medication, not everyone is going to respond the same. You can have all the clinical trial data, but then you’re going to have different babies doing different things, so the monitoring is extremely important. Let’s say that they get the first drug, for example, onasemnogene, and they’re improving but they’re not hitting milestones. As a doctor, I want more. They are improving, they don’t have the trait, they’re breathing, but they’re not sitting. To me, it will be common sense to say they need a second agent. Those other 2 drugs have a different mechanism of action, so that also helps the rationale. Having options make a lot of sense, and we’re going to learn more, but we want to be safe, timely, and thoughtful when we do decide to add a second drug. Communication is the key, along with making a rational case of why we’re asking for a second drug.
Dennis Scanlon, PhD: Dr Schroth, thinking about these treatment decisions and what we just discussed from the patient perspective and the family perspective, it can be complex to weigh these options to understand risks and potential. What might you add in terms of your experience in this area?
Mary Schroth, MD, FAAP, FCCP: From a family perspective, many great points have been made. Every person is different. Every family, along with their health care provider, that makes the decision about the treatment may make a different choice based on their family’s circumstances, priorities, situation, and resources. Their desired end points, the things that are most important to them, depends on where they are in their disease. For example, as Dr Ciafaloni was saying, for families with newborns, we want to maximize function as quickly as possible so they have the best opportunity for outcomes. For our older individuals who go on to a treatment, they’re looking for maintenance or stabilization of disease progression. They’re at a different place with their disease. It’s possible that what an individual who’s over age 18 may consider improvement may be very difficult to measure with the motor function skills that we currently are using. There is a lot to be said about a family’s perception and individual perceptions about what is a beneficial therapy or outcome. We frequently hear that fatigue is improved after being started on treatment. Across the SMA community, we’re looking at measurements of fatigue, and that has been very challenging to try to do in an objective way. It is incredibly meaningful for an individual with SMA to get through their day without being completely exhausted. Maintaining independence is also incredibly important for individuals with SMA. For someone who is driving their own wheelchair, if their natural history is that they may lose function of the 1 finger that allows them to drive their motorized wheelchair, they will do anything to maintain that. Maintaining that function so that they are able to drive that wheelchair is everything. As Dr Ciafaloni was also saying, not everyone responds the same way to these medications. We’re hearing from the community about different adverse effects or benefits that different people are experiencing, so it is definitely unique to each patient. I want to emphasize that it’s really important for the health care provider, patient, and family to have that shared decision-making because there are so many considerations that are going to be very difficult to capture in a policy at this point in time.
Transcript edited for clarity.