Exploring Treatment Expectations and Clinical Meaningfulness in Spinal Muscular Atrophy Using the Goal Attainment Scale.

OBJECTIVES

To investigate how Goal Attainment Scale (GAS) in spinal muscular atrophy (SMA) identifies patient-reported clinically meaningful improvement after disease-modifying treatment and to evaluate whether the patient-stated goals identified through GAS are already captured by items in existing motor assessment scales.

DESIGN

Longitudinal retrospective study considering the first available follow-up.

SETTING

The study was conducted in a rehabilitation center dedicated to neuromuscular diseases.

PARTICIPANTS

The GAS was recorded from N=58 SMA patients on treatment with nusinersen or risdiplam regularly followed for clinical follow-up in 2023.

MAIN OUTCOME MEASURES: Clinical and demographic data, SMA type, Hammersmith Functional Motor Scale, Children's Hospital of Philadelphia scale, Revised Upper Limb Module, 6 Minute Walk Test, and GAS questionnaire were collected.

RESULTS

One hundred forty-nine SMART goals were clustered in 15 macrodomains, with the most frequent being mobility, upper limb strength, and activities of daily living. Most smart goals (72%) could be redirected to items of standardized motor and functional scales. Unmet goals primarily involved activities of daily living, endurance, and mobility, with a particular focus on upper limb strength.

CONCLUSIONS

The GAS provides an individualized, reliable, and quantifiable measure of goal attainment, and is useful in setting realistic treatment expectations that could guide patients and physicians to interpret changes over time.