Background This study aimed to examine the early experience of nusinersen for spinal muscular atrophy (SMA) from the patient and caregiver perspective. Methods A 54‐item online survey was administered to adult patients and caregivers of pediatric patients diagnosed with SMA. Results Overall, respondents (56 patients and 45 caregivers) were satisfied with nusinersen. Satisfaction was highest on changes in energy, stamina, and motor function and lowest on treatment administration and overall time commitment. Differences were noted for treatment effect sustained over time as reported by adult patients vs caregivers reporting on behalf of pediatric patients. Respondents reported insurance approval as a key barrier to access, particularly among adult patients. Conclusions Despite therapeutic advances, there remain significant unmet needs for SMA. Challenges with administration and barriers to access potentially limit the number of patients treated or delay treatment. Continued efforts are needed to develop more treatment options and to improve access to treatments.

INTRODUCTION Current antiretroviral therapies (ARTs) require daily oral dosing, which is a challenge for some people living with HIV (PLHIV). Measures of treatment needs that are associated with daily oral ARTs have been identified in studies/ interviews with healthcare professionals (HCPs) and PLHIV, and are grouped in four main categories: 1) medical conditions interfering with daily oral administration, 2) suboptimal adherence, 3) confidentiality concerns, and 4) emotional wellbeing related to daily tablet requirements. We quantified these categories to assess the potential benefits of alternatives to daily oral ARTs such as long-acting injectable regimens. METHODS Two separate online studies were completed by HCPs (n=120) and PLHIV (n=698) in France, Germany, Italy and the UK, in 2019. HCPs reported the number and percentage of their patients with challenges; unit of analysis among PLHIV was the respondents (%). Descriptive analyses were performed with R 3.6.1. RESULTS HIV physicians reported managing a mean of 299 (SD=177) patients, of whom 85.7% were on ART. Among PLHIV, 98.6% (688/698) were currently on ART, with mean age of 40.9 (SD=12.0) years, and 66.4% men. HCPs estimated that 10-15% of their patients were affected by each medical condition identified as interfering with daily oral administration. HCPs further estimated that 33.6% of their patients were suboptimally adherent. 'Non-adherence for any non-medical reason' was reported by HCPs as the primary cause of virologic failure. Of surveyed PLHIV on ART, 43.3% (298/688) reported hiding their medication and 29.7% (204/688) indicated they had never shared their HIV status with others. Furthermore, some PLHIV reported that having to remember to dose at the right time every day was stressful (27.3%; 188/688) and many saw their tablets as a daily reminder of HIV (45.1%; 310/688). CONCLUSIONS A significant proportion of PLHIV struggle with daily oral ART because of medical and/or HIV-specific issues. Alternatives to daily oral ARTs have the potential to improve treatment adherence and quality of life in PLHIV.

Background Spinal muscular atrophy (SMA) is a genetic debilitating disease affecting approximately 10,000 individuals in the United States. Individuals with SMA frequently require caregiver support and care. Through a partnership with a large patient organization, we surveyed caregivers of individuals with SMA below 18 years of age to understand the impact of SMA on caregivers with respect to their daily activities and health-related quality of life (HRQoL). In addition to structured questions, a standardized HRQoL instrument, the EQ-5D-5L and visual analogue scale, were administered. Results The caregiver sample consisted of 45 unpaid caregivers of individuals with SMA. Of them, 22% reported that they were sole caregivers that received no additional caregiving support and 98% were parents of an affected individual. The majority of caregivers cared for individuals with type 2 (58%), followed by type 1 (38%) and type 3 (4%) SMA. Sixty-four percent of the individuals with SMA were able to sit without support or better, while 31% had some motor function and 5% reported no motor function. On average, caregivers reported spending 136 hours/month managing the overall treatment, care, and support for the affected individual. Most of the individuals (91%) were reported to have received nusinersen; caregivers reported spending 29 hours managing treatment in a typical month. Caregiver time investment correlated directly with disease severity measured by both SMA type and patient motor function level. On average, caregivers rated their overall health as 76 on a scale of 0-100 using the EQ-5D-5L HRQoL visual analogue scale. Specifically, 42% of caregivers reported any inability to do their usual activities and 73% reported any anxiety or depression. Conclusions SMA negatively affects caregiver’s daily activities and HRQoL and represents a substantial burden. Disease severity is associated with an increasing amount of time required for care and support for patients with SMA and caregiver’s own HRQoL. As treatments become available, economic evaluation of these treatments should include effects on the family as well.