<p>As we move into a new era of spinal muscular atrophy (SMA) care, there is a need for new patient-centered measures that capture what truly matters to individuals living with SMA, including fatigue and functional abilities in daily life. Several presentations at <strong>Cure SMA 2025</strong> highlighted innovative approaches to optimizing outcome assessments for patients with SMA.</p> <p><em><br></em></p> <p><em>Following these presentations, featured expert Julie A. Parsons, MD, was interviewed by </em>Conference Reporter <em>Associate Editor-in-Chief Mona Shah, PharmD. Clinical perspectives from Dr Parsons on these findings are presented here.</em></p>

There are standard assessments that are used for infants with SMA, including the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND). However, there is the opinion that CHOP INTEND is not as useful as it once was due to newborn screening and the early introduction of disease-modifying therapies. Most patients with SMA are currently evaluated serially with the Hammersmith Functional Motor Scale Expanded (HFMSE), Hammersmith Infant Neurological Examination-2 (HINE-2), or Revised Upper Limb Module (RULM) because these assessments are used in clinical trials, so we use them in the clinic as well. The real question is: What outcome measures are truly valid, meaningful, and appropriate? For example, some of the items in the HFMSE involve the patient getting out of a wheelchair to get on the floor, and most adults with SMA would not be interested in doing that. So, a lot of investigators have been trying to come up with new motor scale outcome assessment tools that are more appropriate for patients with SMA.

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Another outcome that is really important to patients, particularly as they get older, is fatigue. We are not very good at assessing fatigue and other patient-reported outcomes (PROs), in my estimation. This was reinforced at Cure SMA 2025 during a panel of adult patients with SMA who spoke on their feelings regarding issues surrounding adult care. They felt that the assessments measured in the clinic are not meaningful to them in their activities of daily living and personal lives. I think that this message has been heard and that this is the reason that so many different assessment tools were presented at the meeting.

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For example, the first presentation from the “Outcome Measures for Research and Clinical Care” session at Cure SMA 2025 by Jinseok Oh, PhD, looked at the utility of a wearable sensor suit with a machine learning algorithm to evaluate movement and posture in infants with SMA. The suit, called the Motor Assessment of Infants with a Jumpsuit (MAIJU), was developed by a group from Finland. There are some advantages of the MAIJU, including that it is comfortable, children who wear it are not being poked and prodded, and it can be worn in a natural setting. However, these suits are still prototypes, are expensive, and may require several hours of wear time before you can validate the assessment in a patient. Overall, it is an interesting idea to think about getting fluidity and more natural movement in children with SMA.

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The next presentation from this session at this year’s Cure SMA conference was by Carley Mueller, PT, DPT, PCS, and she evaluated gait speed and its association with fatigue using proprietary in-sole shoe sensors. Interestingly, it was found that fatigue was associated with decreased stride length. Stride length is something that is potentially quantifiable and measurable. The Six-Minute Walk Test (6MWT) that we currently use is not very practical and is often not useful for patients who are weak because they cannot complete it. This would be impactful if we could say that patients’ stride length diminishes as they become increasingly fatigued. Although we are not yet at that stage, it will be interesting to learn what we can do to further evaluate and then generalize this type of information.

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Amy Pasternak, PT, DPT, PCS, presented a Rasch analysis of the SMA Person-Reported Outcome (SMA-PRO) mobility domain in children and adults during the “Outcome Measures for Research and Clinical Care” session at Cure SMA 2025. This analysis looked at whether a new assessment tool can help us be more accurate in evaluating PROs. Once finalized, if we could use something like this as a standard because it is specific for SMA, then we would be able to incorporate the impacts of additional areas such as activities of daily living and factors such as mobility impacts (eg, whether patients are using a walking device or wheelchair). This is another attempt to develop a PRO assessment tool that would hopefully enable us to get more accurate and relevant information on patients with SMA over time.

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Finally, during this session at Cure SMA 2025, Giovanni Baranello, MD, PhD, presented a retrospective assessment of feeding and nutrition after 2 years of risdiplam therapy in children with type 1 SMA who participated in the FIREFISH and RAINBOWFISH trials using the Children’s Eating and Drinking Activity Scale (CEDAS). This novel scale is only a 6-point scale, so, hopefully, it is a little more simplified and would be a quick assessment for all patients with SMA. Feeding and nutrition are important in these patients, and Dr Baranello proposed that we really should be assessing feeding and swallowing routinely using a proxy scale such as the CEDAS. In the future, this could potentially be a way to do a quick assessment on all children and adults with SMA in a more quantifiable fashion.