Abstract
Objectives Disease-modifying therapies are becoming available to adults with 5q SMA in Australia, but the slower progression of disease means evidence for benefit is not as clear as in children. We explore the considerations for adult patients in the COVID pandemic when deciding on treatment, the practicalities of clinical assessments, and the logistics of the 1st6 months of treatment.
Methods We assessed patients’ baseline characteristics, including clinical assessments with spirometry, 2/6MWT, mTUG, RULM, HFMSE, ATEND; and patient-reported outcome measures: EAT-10, SMAFRS, MYMOP. We surveyed the initial experience, side effects, perceived benefits or detriments in adults on treatment.
Results 14 adults were aged 18–63, 9 requiring nocturnal NIV, 5 were remote from the city. 2 adults were on therapy prior to age 18, both deciding to switch from nusinersen to risdiplam. 10 adults (aged 25–58) commenced on therapy with nusinersen, 2 decided against. Disease severity varied widely with RULM score 0–39. Only 2 adults were able to complete the 2/6MWT. None could perform mTUG. The ATEND was practical in the most severely affected. The RULM and ATEND were able to be performed with assistance of a carer via Telehealth. Those on therapy considered ongoing treatment as worthwhile.
Conclusions Adults with SMA have realistic expectation of treatment. The severity of disease did not affect decision on therapy with the majority attending an adult clinic deciding to proceed to therapy and saw it as worthwhile 6 months into therapy despite inconveniences. Clinical assessments need to be tailored to patient’s disease severity.
