Hundreds of applications exist in the marketplace to support medication self-management. However, their quality, content, and functionality are highly variable. Research is needed to determine optimal capabilities, evaluate utility, and determine clinical benefit.
Background:The Cure SMA database is one of the largest patient reported databases for people affected with SMA.Objective:The purpose of this study was to examine a subset of affected SMA persons with types I, II, and III from a patient reported database.Methods:Individuals with SMA were selected from the database using a date of first contact to Cure SMA between 2010 and 2016. Data analyzed included age at diagnosis, number of weeks from SMA diagnosis to contacting Cure SMA, and geographic distribution of individuals.Results:A total of 1,966 individuals with SMA were included in the analysis. Of these individuals, 51.9% had type I, 32.3% had type II, and 15.8% had type III. The average age of diagnosis for type I patients was 5.2 months, 22.1 months for type II, and 97.8 months for type III. From published incidence, about 59.0% of affected individuals in the US are registered in the Cure SMA database.Conclusions:The Cure SMA database is a unique and robust source of patient reported data that informs on the burden of illness and supports the development of new therapeutic modalities.
Background: Individuals and/or caregivers of individuals affected by spinal muscular atrophy (SMA) completed the 2019 Cure SMA Community Update Survey, online, assessing health-related quality of life (HRQoL), loss of work productivity, and fatigue using the Health Utilities Index Questionnaire (HUI), the Work Productivity and Activity Impairment Questionnaire (WPAI), and the Patient Reported Outcomes Measurement Information System Fatigue Short Form (PROMIS Fatigue SF), respectively. The purpose was to collect baseline quality of life results among individuals affected by SMA using the above Patient Reported Outcome Measures (PROMs). Results: Of 666 surveys completed between March and May 2019, 478 were included in this analysis, accounting for duplicates, missing data, or deaths. The breakdown across SMA type I, II and III was 25, 47 and 28%, respectively. Responses were characterized by current functional status/milestone, with subsets for "permanent ventilation," "non-sitters," "sitters," "walk with support," and "walk alone." WPAI and HUI respondents included affected adults and caregivers. The PROMIS Fatigue SF was completed by the primary caregiver of affected children. Overall, those affected by a less severe form of SMA and with a higher functional status reported higher HRQoL and lower work productivity and activity impairment. All affected individuals reported higher fatigue levels than the general population. Conclusions: This study offers useful insights into the burden of SMA among affected individuals and their caregivers. The results provide a baseline picture of the patient and caregiver experience with SMA in a posttreatment era from which to measure year-over-year changes in quality of life scores from new therapies and improved care. The WPAI demonstrates the significant impact of work productivity among SMA populations. Aspects of the HUI seem more appropriate to certain SMA sub-populations than others. Measures from the PROMIS Fatigue SF appear to under-represent the burden of fatigue often reported by SMA individuals and caregivers; this may, perhaps be due to a lack of sensitivity in the questions associated with fatigue in the SMA affected population, when compared with other studies on this topic. Overall, these results suggest the need for SMAspecific quality of life outcome measures to fully capture clinically meaningful change in the SMA population.
Clinical Trials.Gov #NCT01731405.
Purpose: Patients' perceptions of benefiterisk are essential to informing the regulatory process and the context in which potential therapies are evaluated. To bring this critical information to regulators, Cure SMA launched a first-ever Benefit-Risk Survey for spinal muscular atrophy (SMA) to characterize decision-making and benefiterisk trade-offs in SMA associated with a potential therapy. We hypothesized that risk tolerance would be correlated with SMA type/severity and disease progression. This article presents the results of a benefiterisk survey to enhance understanding of how patients with SMA and caregivers evaluate specific benefits and risks associated with potential therapies.Methods: Affected adults, representing all SMA types (IeIV) within the Cure SMA database, and caregivers of affected individuals of all ages/types were invited via e-mail to participate. Besteworst scaling (BWS) was used to assess participants' priorities on benefiterisk trade-offs, as it provides higher discrimination and importance scaling among tested attributes. Twelve potentially clinically meaningful treatment benefits and 11 potential risks (ranging in severity and immediacy) were tested. Multiple factors were correlated with individual responses, including: SMA type/disease severity, stage of disease, respondent type, sex, and quality of life/ level of independence (current and expected). Survey respondents were also evaluated for "risk-taking attitudes."Findings: A total of 298 responses were evaluated (28% affected adults and 72% caregivers, mostly parents). Most respondents were diagnosed >5 years ago (67.3%), with 22.1% SMA type I, 45.6% SMA type II, and 27.9% SMA type III. No strong correlation was found between risk tolerance and SMA type, stage of disease progression, respondent type, sex, quality of life assessment, or rated levels of independence. Irrespective of SMA type, respondents consistently rated the following risks, associated with a potential treatment, as "least tolerable": lifethreatening allergic reactions; 1 in 1000 risk of lifethreatening side effects leading to possible organ failure; or worsening quality of life. Furthermore, all SMA type respondents rated these risks as "most tolerable": invasive mode of treatment administration (including need for general anesthesia); side effect of dizziness; and other common side effects such as nausea, vomiting, loss of appetite, headaches, back pain, or fatigue.Implications: With the approval of the first SMA treatment, these findings offer a unique opportunity to assess and characterize baseline risk-tolerance in SMA against which to evaluate future SMA treatment options. Although differences had been expected in risk tolerance among respondents based on disease baseline and certain patient attributes, this was not observed. Survey results should inform future SMA drug development and benefiterisk assessments.
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