BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder caused by homozygous deletion of the SMN1 gene resulting in survival motor neuron (SMN) deficiency throughout the body. Since 2016, three disease modifying treatments have dramatically altered outcomes for individuals with SMA. As a result SMA diagnosis and treatment considerations are rapidly evolving.
OBJECTIVE: In response to the rapidly evolving SMA phenotype, updated SMA best practice recommendations were developed and published in 2024. The proposed presentation will provide an overview of best practice recommendation for SMA diagnosis and SMA treatment considerations.
RESULTS: Following SMA newborn screening (NBS) and SMA treatments systematic literature reviews for each topic, a unique working group of American and European SMA healthcare providers developed recommendations by modified Delphi technique. A community working group provided insight on SMA diagnosis and treatments through a virtual meeting.
Recommendations for best practices for SMA NBS include characterizing NBS-identified infants before treatment, activities and services to be provided by an SMA specialty care center accepting SMA NBS referrals, and guidance to provide support by partnering with individuals with SMA and caregivers. Signs and symptoms suggesting adult onset SMA are described.
Best practice recommendations for SMA treatments include that when starting, changing, adding, or discontinuing a treatment, essential considerations include patient and family/caregiver perspective and treatment safety and side effects. When initiating treatment for patients newly diagnosed with SMA, important patient characteristics are age and SMN2 copy number. When initiating, changing, or adding treatment, current clinical status and comorbidities drive decision-making. When considering a treatment plan change, unless there is an urgent indication, a treatment and associated patient outcomes should be monitored for a minimum of 6–12 months. When determining a treatment plan with an adolescent or adult with SMA, consider factors such as quality of life, burden vs benefit of treatment, and reproductive issues. Access to care coordination and interdisciplinary/ multidisciplinary care are essential to treatment success.
CONCLUSION: Updating best practice recommendations for SMA diagnosis and SMA treatment considerations are essential to advancing care for individuals with SMA.