Cure SMA Attends Spring 2024 Professional Organization Conferences to Promote Findings from Industry Collaboration Initiatives 

The purpose of this analysis is to present rationale for more than one disease modifying therapy (DMT) use as obtained from the 2023 Community Update Survey (CUS). The CUS is an annual survey hosted by Cure SMA to better understand the demographics and treatment experiences of those living with SMA. The final analysis sample included 437 surveys from 187 adults affected with SMA and 250 caregivers. 58% of affected individuals were treated with monotherapy (defined as an individual that was treated with a single SMA DMT), followed by 29.3% treated with sequential therapy (defined as an individual that stopped either nusinersen or risdiplam before starting an additional SMA DMT) and 12.4% treated with combination therapy (defined as those treated with more than one SMA DMT at the same time or an individual that received nusinersen and/or risdiplam after onasemnogene abeparvovec administration). As reported by caregivers, the most common reason for children living with SMA (82%; 37/45 respondents) being treated with combination therapy was wanting all possible DMTs; wanting to try a different DMT was the most common reason (73%; 37/51 respondents) for sequential treatment (Figure 1). Among adults affected with SMA, the most common reason (88%; 66/75 respondents) for being treated with sequential therapy was wanting to try a different DMT (Figure 2). The results of this survey emphasize a call to action to recognize that combination treatment is occurring and those within the research and clinical community have an obligation to collect more data to study the safety and effectiveness of combination therapy. 

The purpose of this analysis was to present predictors of a health utility score in individuals diagnosed with SMA. A health utility score is one way to measure the health status of an individual on a scale from 0 to 1. Higher scores suggest a higher health status. This analysis used the Health Utilities Index Mark 3 (HUI3). The HUI3 provides comprehensive, reliable, responsive, and valid measures of health status and health related quality of life (HRQOL). Data was collected through the annual CUS. Since 2017, the CUS has captured data such as demographics, treatment experience and HRQOL measures, including the HUI3. Key findings of the model suggested that severe SMA Type 1 is associated with lower HUI3 scores, while those with SMA Types 3 and 4 show higher scores compared to Type 2. Those who receive treatment have associations with higher HUI3 scores compared to those not receiving treatment. Having commercial insurance is linked to higher HUI3 scores than having public insurance. Age at time of survey completion is negatively associated, suggesting that as age increases, HUI3 score tends to decrease. This model underscores the influence of SMA type, treatment modality, age, insurance category, and survey year on HUI3 scores, providing valuable insights into factors impacting HRQOL in individuals with SMA. 

This analysis studied the reported rates of mental health diagnosis among teenagers and adults living with SMA in the United States (US). While the physical effects of SMA have been well-studied, there remains a gap in understanding the mental health of individuals affected with SMA. Data was collected from adults living with SMA and caregivers through the 2019 – 2023 CUS. The same group of individuals were not followed each year as participation rates varied. Cure SMA observed fluctuations in reported depression and anxiety rates among those surveyed. The number of individuals reporting a diagnosis of depression showed a slight increase from 27% in 2019 to 34% in 2023 (Figure 3). Similarly, the overall number of individuals reporting a diagnosis of anxiety increased from 28% in 2019, to 44% in 2023 (Figure 3). Adults consistently reported higher rates of depression, while teens had higher rates of anxiety (Figure 4). There was a positive trend in seeking treatment for both depression and anxiety, with more individuals seeking help over time. These findings demonstrate the association of mental health concerns with SMA and lay the groundwork for tailored interventions and support services for the community.  

Cure SMA conducted an analysis to explore how social determinants of health (SDOH) affect the lives of individuals living with SMA in the US. SDOH are factors that affect an individuals' health outcomes and wellbeing, and include socioeconomic status, access to healthcare, educational opportunities, and community support. Data was collected through the 2023 annual Cure SMA Community Update Survey (CUS). 55% of survey participants where adults living with SMA; 84% identified as White, and 87% identified as non-Hispanic or Latino. The majority of individuals expressed receiving SMA treatment. However, a slight increase in treatment was observed as household income increased. Specifically, 86% of participants with a household income less than $20,000 per year reported receiving treatment. However, 95% of those with a yearly household income greater than $200,000 report treatment. Transportation to healthcare services also varied based on income, with lower-income individuals relying more on family or public transit. The study highlights the importance of understanding and addressing social factors that may impact the health and well-being of the SMA population. By recognizing and addressing these issues, healthcare providers and policymakers can improve outcomes and quality of life for those living with SMA. 

In 2019, Cure SMA launched the first Clinical Trial Experience Survey to better understand why individuals within the SMA community participated in clinical trials and what barriers to participation existed. Since 2019, two additional FDA-approved treatments for SMA have become available and expanded newborn screening has allowed more people to be diagnosed at birth, leading to earlier treatment. To understand the impact of these groundbreaking changes, Cure SMA launched an expanded Clinical Trial Experience Survey in 2023. In the 2023 version, Cure SMA also sought to understand the experiences of those who had considered trial participation but ended up not participating, as well as those who had never considered participation in a clinical trial. 

Cure SMA received a total of 274 unique responses to its 2023 survey, including responses from 169 adults living with SMA and 105 caregivers on behalf of children with SMA. 19% of participants reported participation in a clinical trial, 36% had considered participating but ended up not participating, and 45% had never considered trial participation. Participants within all three groups reported similar benefits to clinical trial participation including, “hope for a better future”, “improved quality of life”, and “treating and preventing SMA.” Clinical trial participants were more likely to be motivated to take part in a clinical trial due to a “desire to help science” compared to respondents that did not participate. Respondents who had never participated in a clinical trial had more concerns than those who did participate, especially about safety.  

Thank you to the Cure SMA community for participating in this survey! Cure SMA and collaborators can use these results to better design clinical trials, understand misconceptions about clinical trials, and create resources that assist the community in their decision-making regarding clinical trials. If you would like to learn more about participating in SMA research, visit Cure SMA’s NEW Clinical Trials page, which includes handouts on informed consent, traveling for clinical trials, the screening visit, and more!   

Cure SMA carried out the Clinical Trial Capacity and Recruitment Survey in 2023 to understand whether current clinical trials sites have capacity to take on new trials and identify opportunities to increase site capacity. The results include 24 SMA sites and show that many trial sites have capacity for new trials but also face challenges when undertaking additional studies. Limited staff bandwidth and contract negotiations were especially significant challenges to study start-up for some sites, while increasing the number of clinical research coordinators and physical therapists were helpful for increasing capacity. Continued attention to the bandwidth and training needs of research teams will be important as the SMA trial landscape continues to evolve.