The Changing Landscape in the Treatment of Spinal Muscular Atrophy

Thomas Crawford, MD, discusses the classification of different phenotypes of SMA and comments on the degree to which these classifications are relevant to treatment approaches.

A panel of key opinion leaders in neurology considers the importance of newborn screening for spinal muscular atrophy in order to start patients on treatment as early as possible.

Expert neurologist Carolina Tesi Rocha, MD reviews the signs and symptoms of SMA and their impact on the delay of developmental milestones in infants and toddlers. 

Basil Darras, MD considers the impact of genetic testing for SMN1 deletion and SMN2 copy numbers in potential patients and discusses best practices to prevent diagnostic delay. 

A panel of experts in SMA builds a lively discussion on the accuracy and prognostic value of genetic testing and screening and examines how results may impact treatment considerations.

Key opinion leaders in neurology comment on the importance of awareness and urgency in the primary care setting to diagnose spinal muscular atrophy and refer the patient to a specialist.

Carolina Tesi Rocha, MD examines the recent shift to disease-modifying treatment in SMA, and the panel reviews factors to consider when tailoring therapy to individual patients.

Basil Darras, MD reviews data from the ENDEAR trial of nusinersen in infantile SMA and discusses the agent’s safety and efficacy in patients of differing age groups as studied in other trials.

Experts in neurology Tom Crawford, MD and Claudia Chiriboga, MD, MPH discuss the impact of the NURTURE trial of nusinersen in patients with presymptomatic SMA.

Key opinion leader in neurology Carolina Tesi Rocha, MD provides an overview of onasemnogene abeparvovec by discussing its mechanism of action, safety, and efficacy for patients with SMA.

Tom Crawford, MD provides key insights into the START clinical trial of onasemnogene abeparvovec in symptomatic SMA and discusses its safety and efficacy for children up to 24 months of age.

Basil Darras, MD provides an overview of safety and efficacy data from the phase 3 STR1VE clinical trial of onasemnogene abeparvovec in patients with symptomatic SMA up to 6 months of age.

Claudia Chiriboga, MD, MPH reviews data from the SPR1NT clinical trial of patients with presymptomatic SMA and emphasizes how the trial highlights the importance of prenatal screening and early treatment.

Expert pediatric neurologist Carolina Tesi Rocha, MD gives insight into the mechanism of action of risdiplam and comments on the need for further monitoring of its potential adverse effects.

Basil Darras, MD discusses the FIREFISH trial of risdiplam in infants with type 1 symptomatic SMA and comments on the difficulty of comparing agents when trials have had different enrollment criteria.

Tom Crawford, MD, examines data from the SUNFISH trial of patients with type 2 and type 3 SMA and emphasizes the need for further data before risdiplam can be directly compared to other treatment options.

Key opinion leader in neurology Claudia Chiriboga, MD, MPH provides insight into response to risdiplam in patients with SMA who were not naïve to treatment as studied in the JEWELFISH clinical trial.

A panel of experts considers current unmet needs in SMA by emphasizing the need for further study of combination therapy, more comprehensive newborn screening, and more effective early diagnosis and treatment.