Introduction: The 2023 State of SMA Report
Lisa Belter, MPH ~ Cure SMA
Main Points
- Belter opened the Special Session by presenting highlights from Cure SMA’s 2023 State of SMA Report. This annual report shares information collected from Cure SMA’s three databases: a patient-reported database with data from over 10,000 affected individuals worldwide that also incorporates data from Cure SMA’s annual Community Update Survey; the SMA Clinical Data Registry (CDR) that contains electronic medical record (EMR) sourced data from U.S.-based SMA Care Center Network sites; and the Newborn Screening Registry that contains data from parents of babies with SMA who were identified through newborn screening in the U.S.
- The presentation featured data describing several aspects of the current SMA population, such as age distribution, SMA type and SMN2 copy number prevalence, and priorities for unmet treatment needs.
- The complete 2023 State of SMA Report can be viewed here.
Panel Discussion: The Adult SMA Experience
Doug McCullough, Jaclyn Greenwood, Ryan Manriquez
Main Points
- In this panel discussion, three adults with SMA shared their unique diagnostic journeys and described how living with SMA has affected various aspects of their lives, including their career paths.
- A common theme among the panel members was the desire to maintain as much independence as possible. Among the discussed threats to independence is the risk of falling, which can sometimes result in a broken bone and prolonged recovery.
- Panel members agreed that another challenge they frequently face is navigating insurance while trying to do things like switch therapies or buy a specialized vehicle.
- Each panel member expressed interest in learning about new treatments and other therapeutic strategies, such as specialized exercise, that may prevent loss of motor function. One panel member explained, “I’m getting older, and a little loss of function has a bigger impact. If you have 90% function, a 1% loss isn’t that significant. But if you have 10% function, a 1% loss can make a big difference.”
Podium Presentation 1. Clinical Care: The Unique Needs of Adults with SMA
Bakri Elsheikh, MD ~ The Ohio State University Wexner Medical Center, United States
Main Points
- It is estimated that one third to one half of the global SMA population is over the age of 18. Furthermore, disease modifying therapy has extended the life expectancy of infants and children with severe forms of SMA, which will likely increase the number of people with SMA who live to adulthood.
- In his presentation, Dr. Elsheikh reviewed what is currently known about SMA in adults, and he identified knowledge gaps in SMA treatment and clinical care.
- Elsheikh noted that new disease phenotypes, variability in treatment response, the limitations of real-world data, the prevalence of comorbidities, and the need for validated biomarkers are all challenges in meeting the unique needs of adults with SMA.
- Identifying the unmet needs of the growing population of adults with SMA may help researchers and clinicians prioritize next steps in optimizing adult treatment and clinical care.
Podium Presentation 2. SMA and Aging: Lessons from Sarcopenia
Roger Fielding, PhD ~ Tufts University, MA, United States
Main Points
- Sarcopenia is the progressive, age-associated decrease in skeletal muscle mass, strength, and performance. The disease reduces mobility and increases frailty in aging adults, which in turn increases the risk of falls and bone fractures.
- Fielding explained that multiple factors contribute to sarcopenia as people age, including behavioral changes like reduced physical activity and appetite, as well as molecular changes that occur naturally inside aging muscle cells.
- He also described evidence-based interventions---such as exercise, supplementation, and pharmacologic compounds---that have been shown to slow the progression of sarcopenia.
- Understanding sarcopenia in otherwise healthy aging adults may help researchers and clinicians better support the muscle health and function of aging adults with SMA.
Podium Presentation 4. Regeneration after Chronic Denervation
Sophie Rengarajan, MD, PhD ~ Stanford Medicine, CA, United States
Main Points
- Three disease modifying therapies have been approved for slowing or halting disease progression in people with SMA, but no treatment has yet been approved for restoring lost muscle strength and function.
- A molecule called “prostaglandin E2 (PGE2)” is naturally expressed in muscle cells and has been shown to be important for muscle regeneration. Dr. Rengarajan and her research colleagues identified an enzyme, 15-PGDH, that counteracts the effects of PGE2, causing muscles to atrophy and weaken. The researchers also found that 15-PGDH levels are high in the muscles of SMA mice, and that pharmacologically reducing 15-PGDH levels in these mice increases their muscles strength.
- Determining which intracellular molecules are important for restoring muscle strength and function may help researchers find new druggable targets for SMA add-on therapies.
