Cure SMA Shares Research Insights with Scientists and Clinicians at Spring 2026 Conferences

Study Purpose: Since 2017, Cure SMA has collected data on the lived experiences of people living with SMA through the annual Community Update Survey (CUS). In 2025, the CUS was updated to include questions about changes in activities of daily living (ADLs) among adults living with SMA, as this may be a more appropriate measure of SMA-treatment response among those treated later in life. The purpose of this study was to measure changes in ADLs (Figure 1), by SMA treatment status, over the previous 12 months among adults living with SMA. Treatment status was categorized into three groups:                  

• Treated: received at least one SMA treatment for 12 months
• Discontinued treatment: received at least one SMA treatment but stopped use of all treatments for at least 12 months before survey completion
• Untreated: never received an SMA treatment

Figure 1. Activities of daily living assessed by Cure SMA in the 2025 Community Update Survey

Results: The treated group was the only group in which individuals reported improvement in their ability to perform at least one of the ADLs in the last 12 months. The discontinued treatment group had the largest proportion (80%) of individuals reporting a decline in their ability to perform at least one of the ADLs, followed by the untreated group (58%). The treated group had the largest proportion (87%) of individuals reporting stabilization in their ability to perform at least one of the ADLs, followed by the untreated group (83%).

Meaning: This study provides real-world insight into how treatment status may impact the ability to perform ADLs over time in adults living with SMA. These findings may help to guide more appropriate outcome assessments in this population.

Study Purpose: In 2025, Cure SMA developed the Unmet Needs Among Adults Across the Healthcare Spectrum Survey to better understand unmet needs and gaps in healthcare among adults living with SMA. This analysis compared the following data reported by treated and untreated individuals with SMA: demographics, disease severity, current symptoms, and which activities of daily living (ADLs) were reported as difficult to complete.

Results: Most individuals (89%) reported being treated with at least one disease modifying therapy. ADLs that were most often reported as difficult to complete were similar among both the treated and untreated groups (Figure 2), with the most common difficult ADLs being “unexpected events that require more strength and/or energy to complete” (91% vs. 76%) and “managing the home” (84% vs. 79%).

Meaning: These findings highlight the need for continued research into therapies that further modify disease progression, as well as additional care approaches to support individuals who do not receive treatment.

Figure 2. Activities of daily living reported as being difficult to complete among treated and untreated adults with SMA

Study Purpose: Cure SMA developed the 2024 Access to SMA Treatment and Care Survey to better understand the impact of insurance denials and appeals for FDA-approved treatments on the SMA community. The survey was distributed to adults living with SMA and caregivers of children with SMA aged 0 to 17 years within the Cure SMA membership database from August 27 to October 18, 2024. Individuals living in the United States and Puerto Rico were eligible to take part. The final analysis sample included 319 respondents.

Results: The findings from 319 respondents showed that insurance denials are common and can delay treatment. The majority of adult and caregiver respondents reported at least one insurance denial for an FDA-approved treatment for SMA (Figure 3). While most appeals were ultimately successful, 19% of adults and 13% of caregivers reported treatment delays of more than 8 weeks. Additionally, our findings show that those who experienced an insurance denial for SMA treatment were also more likely to have difficulty paying medical bills and face barriers when attempting to schedule appointments with specialists due to delayed appointment preauthorization.

Meaning: These results highlight how insurance barriers can create compounded delays and added burden for individuals with SMA and their families, underscoring the ongoing need to address coverage restrictions to support community access to treatment and care.

Figure 3. Journey to treatment after denial. Flowchart shows the percentage of survey respondents who experienced at least one insurance denial, the percentage of denials that were appealed, the percentage of successful appeals, and reported treatment delays associated with denials (n = 319 respondents; 226 total denials reported)

Study Purpose: In 2025, Cure SMA carried out a survey to better understand the diagnostic journey and lived experiences of adults living with SMA Type 4 when attempting to access treatment and care.

Results: 13 unique responses from adults with a self‑reported diagnosis of SMA Type 4 were obtained. Findings show that the diagnostic journey experienced by adults with SMA Type 4 varied. Most respondents (92%) reported that a neurologist or neuromuscular specialist initially suspected that they had SMA, and on average reported seeing about four clinicians before receiving a SMA diagnosis. Respondents with a family history of SMA were typically diagnosed within a year (83%), while those without a known family history reported diagnostic delays that ranged from less than one year to ten years. 31% of respondents were initially misdiagnosed with other conditions, such as ALS, polymyositis, and muscular dystrophy. Additionally, 46% of respondents reported current or prior use of an FDA‑approved SMA treatment, with insurance-related issues and difficulty finding knowledgeable providers cited as common challenges when attempting to access treatment. Despite these gaps, respondents shared clear priorities for treatment, including gaining muscle strength and reducing fatigue.

Meaning: These results highlight ongoing unmet needs and barriers to treatment for adults with SMA Type 4 and point to the importance of provider education to support timely diagnosis.

Study Purpose: Utilizing data from the 2025 CUS, the goal of this study was to analyze the relationship between Social Determinants of Health (SDOH) factors, such as demographic and socioeconomic variables, and patient-reported disease burden in adults with SMA Types 2 and 3. Disease burden was measured using the Spinal Muscular Atrophy Health Index (SMA-HI) short form, which assesses symptoms and health-related quality of life from the perspective of the patient with SMA. The SMA-HI is measured on a scale of 0-100, with 0 suggesting no disease burden, and 100 representing the maximum level of disease burden.

Results: The overall sample of adults had an average SMA-HI score of 39. Items that were reported as having the greatest impact on an individual’s life included “limitations with mobility/walking,” “hip, thigh, or knee weakness,” and “problems with shoulders or arms” (Figure 4). Key findings from the analysis included:

• Household Income: Individuals with a yearly household income of $41,000-$70,000 had significantly lower SMA-HI scores compared to those earning less than $41,000.
• Employment status: Part-time employment was associated with higher SMA-HI scores relative to full-time employment.
• Race/Ethnicity: Non-white individuals had lower SMA-HI scores compared to White individuals.

Meaning: These findings suggest that socioeconomic and demographic factors may contribute to disparities in SMA-related outcomes and should be considered when assessing and supporting patients. Further research with larger and more diverse SMA populations is warranted to better understand the impact of SDOH across the full spectrum of disease severity.

Figure 4. Measured items in the SMA-HI and self-reported impact on daily life. (n=140)

Study Purpose: SMA has historically been explored through a physical lens, leaving a significant gap in understanding the mental and emotional health of impacted individuals. Using data from the 2025 Unmet Needs Among Adults Across the Healthcare Spectrum Survey, Cure SMA carried out an analysis to better understand the mental health experiences of adults living with SMA.

Results: Most individuals (78%) reported that living with SMA has impacted their mental or emotional health, with the top reported ways being “stress of having to rely on someone else” (90%), “worry about disease progression or loss of function” (89%), and “feeling like a burden to others” (88%) (Figure 5). When asked, “What helps to support your mental and emotional health while living with SMA?”, the most common responses were “support from family or friends” (77%), “spending time with friends and/or romantic partners” (66%), “engaging in creative activities or hobbies” (57%), and “connecting with others in the SMA or disability community” (53%). Around half of the respondents (51%) reported having a mental health concern at the time of survey completion, and of these individuals, 68% said they are comfortable talking to their providers about their mental health; however, 17% reported that they do not feel comfortable, and 15% were unsure.

Meaning: Adults living with SMA often experience mental and emotional challenges alongside physical ones. These findings point to the value of routine mental health screening, improved provider–patient communication, and more holistic approaches to care.

Figure 5. Self-reported ways that living with SMA has impacted the mental and emotional health of adults (n=204)

Study Purpose: Disease-modifying therapies (DMTs) for SMA have led to improved survival and motor function, and as a result an increasing number of individuals with SMA are living well into adulthood. To understand the broad health profile of adults with SMA, Cure SMA carried out an analysis to describe the prevalence and distribution of selected comorbidities among adults living with SMA and identify differences by SMA type and age.

Results: 20% of individuals denied having been diagnosed with select comorbidities, 21% had been diagnosed with one, and 60% diagnosed with 2 or more. The most common comorbidities reported were chronic pain (24%), osteoporosis (24%), osteopenia (24%), hypertension (22%), and obesity (20%). In a sub-analysis among adults with Type 2 and Type 3 SMA, there was a slightly higher proportion of asthma and osteoporosis among those with Type 2, while individuals with Type 3 had higher prevalence of obesity, chronic pain, and osteopenia. Additionally, individuals with Type 2 SMA were diagnosed with their respective comorbidities earlier in life than those with Type 3 (Figure 6).  When comorbidities were looked at by age, we identified an increase in the prevalence of hypertension, high cholesterol, osteoporosis, and osteopenia, while there was a decrease in the prevalence of asthma and anxiety as age increased.

Meaning: These findings highlight the need for proactive screening and multidisciplinary care. As individuals with SMA continue to live longer, addressing comorbid conditions will be essential to optimizing long-term health and quality of life in adulthood.

Figure 6. Prevalence of select comorbidities and average age at diagnosis among adults with Types 2 and 3 SMA

Study Purpose: In the past decade, the approval of multiple SMA therapies has led to a complex and rapidly changing treatment landscape. Cure SMA developed a clinician survey in 2025 to better understand healthcare provider perspectives on SMA treatment decision-making and barriers and capacity challenges that impact a center’s ability to prescribe and give SMA treatment. The online survey was completed by clinicians in the United States that have prescribed SMA disease-modifying treatment(s) to individuals living with SMA. The analysis focused on measuring center-level barriers and readiness for future SMA drug treatments.

Results: The final sample of respondents included 80 clinicians from 32 states, most of which were neurologists (78%) from academic medical centers (66%). The majority (74%) reported that at least one center-level barrier impacted their ability to access and give SMA treatments. Barriers related to cost/procurement and staffing/coordination were most frequently reported (Figure 7). Among those reporting barriers, frequently reported impacts were:

• Delay/disruption of SMA treatment
• Additional stress/anxiety on the patient
• Additional burden on the patient

Most (80%) reported that their center was ready to deliver new SMA treatments expected to be approved in 2025 and 2026, but readiness was generally lower for clinicians who cared for a lower number of patients with SMA. Barriers related to cost/procurement and experience/knowledge of administrative staff that support procurement and insurance authorizations were frequently reported as future predicted barriers.

Meaning: The findings from this analysis show key treatment barriers and disparities identified by clinicians and how these barriers can have direct impacts on patients with SMA.

Figure 7. Reported center-level barriers that impact clinicians’ ability to access and administer SMA treatment. Options are not mutually exclusive (except “None”)