Dr. Stacey Clardy, a specialist in updated practices for Spinal Muscular Atrophy (SMA), joins Dr. Mary Schroth, an expert in treatment options. They discuss revised SMA guidelines, emphasizing the new newborn screening set for January 2024. The conversation covers the genetics behind SMA and how modern treatments are changing outcomes, especially for babies diagnosed early. They confront the ongoing challenges in care and research, particularly regarding neurocognitive effects and the shift towards adult SMA patients.
Recent SMA care recommendations prioritize early newborn screening and integrated decision-making among patients, caregivers, and healthcare providers for better outcomes.
Three FDA-approved treatments for SMA significantly improve clinical outcomes by enhancing SMN protein production, especially when administered early in life.
Deep dives
Advancements in Spinal Muscular Atrophy (SMA) Recommendations
Recent updates to SMA care recommendations emphasize the importance of newborn screening and the inclusion of adult-onset SMA, which is relatively rare compared to the childhood forms. Newborn screening for SMA began nationwide implementation in the U.S. by January 2024, resulting from advocacy and advancements in detection technology which now captures approximately 95% of cases. The recommendations also highlight the need for collaboration between patients, caregivers, and healthcare providers in decision-making and care delivery, marking a shift towards a more integrated approach to patient health. With these updates, more comprehensive guidelines are available to help clinicians adapt to the evolving landscape of SMA treatment and management.
Current Treatments and Their Impact
Three FDA-approved treatments for SMA—Spinraza, RISD, and Zolgensma—have been developed to increase the production of SMN protein, crucial for motor neuron health. Each treatment has a specific administration method, with Spinraza administered intrathecally and Zolgensma delivered as a one-time intravenous infusion for infants under two years old. Studies show that children treated early, particularly those diagnosed before six weeks of age, exhibit significantly better survival rates and quality of life compared to historical data, achieving milestones like walking and not requiring respiratory or nutritional support. While these treatments modify the disease rather than cure it, they represent a significant improvement in clinical outcomes, shifting the narrative around SMA management.
Future Directions and Ongoing Challenges
The increasing adult population living with SMA presents new challenges and necessitates an evolution in care strategies, as over 50% of SMA patients are now adults. Efforts are underway to enhance treatment accessibility for the 30% of the SMA community who remain untreated, ensuring that all individuals who wish to receive therapy can do so. Research is ongoing into combination therapies and novel treatments, such as myostatin inhibitors, which show promising preliminary results in enhancing muscle function. The focus remains on improving quality of life for all SMA patients while continuing the quest for a definitive cure, recognizing the unique challenges faced by those with adult-onset SMA.
Dr. Stacey Clardy talks with Dr. Mary Schroth about the revised SMA recommendations, treatment options available, treatment outcomes, and the future of SMA research and care.
