John Brandsema, MD

Panelists discuss how emerging intrathecal gene therapy for older patients with spinal muscular atrophy (SMA) shows modest efficacy with fewer systemic adverse effects than intravenous administration, though safety concerns and limited data remain.

Panelists discuss how comorbidities such as scoliosis, dislocated hips, and nutritional issues affect spinal muscular atrophy (SMA) treatment decisions, with treatment approaches evolving as patients' functional abilities improve with disease-modifying therapies.

Panelists discuss how disease progression despite treatment in older patients with spinal muscular atrophy (SMA) may be due to natural aging effects combined with SMA, not necessarily treatment failure, highlighting the importance of exercise, nutrition, and management of contractures.

Panelists discuss how splice modifiers work by enhancing protein production from the SMN2 gene, with risdiplam (Evrysdi) being an oral daily medication and nusinersen (Spinraza) being administered intrathecally quarterly, both showing similar safety and efficacy profiles.

Panelists discuss how the current spinal muscular atrophy (SMA) treatment landscape includes 3 options: gene therapy (onasemnogene abeparvovec [Zolgensma]) for younger patients and 2 splice modifiers (nusinersen [Spinraza] and risdiplam [Evrysdi]) for older patients.

Panelists discuss how supportive care for patients with spinal muscular atrophy (SMA) includes rehabilitation, respiratory care, psychosocial support, and multidisciplinary approaches to help patients achieve independence and improved quality of life.

Untreated Spinal Muscular Atrophy leads to severe complications and declines in quality of life, emphasizing the need for early intervention.

Early intervention in Spinal Muscular Atrophy is crucial for better outcomes, emphasizing the need for timely treatment to prevent irreversible disability.

Panelists discuss how the needs of older patients with spinal muscular atrophy (SMA) differ from infants, focusing on independence, education, career goals, fatigue management, and quality of life rather than just motor milestones.

Panelists discuss how spinal muscular atrophy (SMA) progresses over time, affecting motor function differently in older patients vs infants, with experts noting the shift from traditional classification (types 1 to 4) to functional categories (nonsitters, sitters, walkers).

Access to timely treatment for spinal muscular atrophy (SMA) remains a challenge, with barriers including delays in diagnosis, frequent treatment needs, and insurance coverage gaps, which impact patient care and quality of life.

A multidisciplinary approach, early diagnosis, and comprehensive caregiver education are crucial in effectively managing spinal muscular atrophy (SMA).