Assessment of Barriers to Referral and Appointment Wait Times for the Evaluation of Spinal Muscular Atrophy (SMA): Findings from a Web-Based Physician Survey.

Background: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy. Clinical trial data suggest early diagnosis and treatment are critical. The purpose of this study was to evaluate neurology appointment wait times for newborn screening identified infants, pediatric cases mirroring SMA symptomatology, and cases in which SMA is suspected by the referring physician.

Evaluating Perceived Fatigue within an Adult Spinal Muscular Atrophy Population.

Introduction: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy. While chronic fatigue is a common manifestation of SMA, the field lacks comprehensive data to assess the extent of its impact. Cure SMA, an SMA patient advocacy organization, conducted an online survey of its adults with SMA community members to measure the impact of fatigue.

Telemedicine Use, Comfort, and Perceived Effectiveness in the Spinal Muscular Atrophy Community.

Telemedicine may increase access to clinical care, particularly for mobility-limited communities such as the spinal muscular atrophy (SMA) community. However, much of the information on exposure to and attitudes toward telemedicine in neuromuscular diseases generally and SMA specifically is anecdotal or from focus groups. Gaining greater insight into patient perspectives is important, given telemedicine's potential for expanding access to care and growing use of telemedicine as a result of technology advances and the COVID-19 pandemic.

Identifying Biomarkers of Spinal Muscular Atrophy for Further Development.

Background: Spinal muscular atrophy (SMA) is caused by bi-allelic, recessive mutations of the survival motor neuron 1 (SMN1) gene and reduced expression levels of the survival motor neuron (SMN) protein. Degeneration of alpha motor neurons in the spinal cord causes progressive skeletal muscle weakness. The wide range of disease severities, variable rates of decline, and heterogenous clinical responses to approved disease-modifying treatment remain poorly understood and limit the ability to optimize treatment for patients.

Effects of the COVID-19 Pandemic on SMA Screening and Care: Physician and Community Insights.

Objective: As part of efforts to reduce diagnostic delays and enhance clinical trials, Cure SMA evaluated the effects of COVID-19 on SMA care and clinical trial conduct.

Introduction: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive, potentially debilitating muscle weakness and atrophy. Uninterrupted access to early diagnosis, disease-modifying treatment, and care for SMA is vital to avoiding irreversible motor neuron death and achieving optimal patient outcomes.

Knowledge of genetic test results among caregivers and individuals with spinal muscular atrophy.

Spinal muscular atrophy (SMA) is a progressive recessive genetic disease. Early identification is critical for achieving maximal treatment benefit. Survival motor neuron (SMN) 2 copy number may be a needed descriptor of disease severity than SMA type.

Investigating attitudes toward prenatal diagnosis and fetal therapy for spinal muscular atrophy.

Objective: In utero SMA treatment could improve survival and neurologic outcomes. We investigated the attitudes of patients and parents with SMA regarding prenatal diagnosis, fetal therapies, and clinical trials.

Methods: A multidisciplinary team designed a questionnaire that Cure SMA electronically distributed to parents and patients (>18 years old) affected by SMA.

Clinical and Research Readiness for Spinal Muscular Atrophy: The Time Is Now for Knowledge Translation.

Unlabelled: Disease-modifying therapies for spinal muscular atrophy (SMA) are rapidly changing the outlook for many individuals by substantially altering the clinical course, phenotypic expression, and functional outcomes. Physical therapists have played critical roles in the effective conduct and execution of clinical trials leading to the approval of these therapies. Given the treatment landscape, educating practicing clinicians to understand best practice is of great importance, and a timely call to action to facilitate knowledge translation from SMA researchers to clinicians is necessary.

The Cure SMA Clinical Trial Experience Survey: A Study of Trial Participant Perspectives on Clinical Trial Management and Patient-Centric Management Practices.

Introduction: Understanding clinical trial experiences can illuminate opportunities to optimize trial design and management, with potential benefits for recruitment and retention. This study sought to better understand clinical trial participant experiences and attitudes within spinal muscular atrophy (SMA), and how the evolving treatment landscape and participant characteristics may predict attitudes.

Methods: A survey was developed following a review of published literature and discussions with caregivers of SMA trial participants.

Assessing perspectives of disease burden and clinically meaningful changes using the Spinal Muscular Atrophy Health Index in adolescents and young adults.

Introduction/aims: Spinal muscular atrophy (SMA) treatment may increase survival and improve physical function among adolescents and young adults. Validated patient-reported outcome measures are needed to understand which treatment benefits are clinically meaningful and to develop targeted resources for this population. To date, use of the SMA Health Index (SMA-HI) in pediatric and young adult populations has been limited.

Awareness screening and referral patterns among pediatricians in the United States related to early clinical features of spinal muscular atrophy (SMA).

Background: Spinal Muscular Atrophy (SMA), a leading genetic cause of death in infants, is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy. While early diagnosis of SMA is critical to modifying disease progression and improving outcomes, serious diagnostic delays persist. There is a need to improve SMA awareness, screening, and referral patterns.

"I have SMA, SMA doesn't have me": a qualitative snapshot into the challenges, successes, and quality of life of adolescents and young adults with SMA.

Background: With the approval of three treatments for spinal muscular atrophy (SMA) and several promising therapies on the horizon, the SMA adolescent and young adult populations are expected to evolve in the coming years. It is imperative to understand this cohort as it exists today to provide optimal care and resources, as well as to assess possible treatment effects over time. In 2018, Cure SMA launched two initiatives geared towards understanding adolescents and young adults with SMA, ages 12-25.

Economic burden of spinal muscular atrophy: an analysis of claims data.

: Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disease. : Characterize direct costs associated with SMA management. : Truven Health Analytics MarketScan claims data (2012-2016).

The Cure SMA Membership Surveys: Highlights of Key Demographic and Clinical Characteristics of Individuals with Spinal Muscular Atrophy.

Background: Cure SMA maintains the largest patient-reported database for people affected with spinal muscular atrophy (SMA). In 2017, Cure SMA initiated annual surveys with their membership to collect demographic and disease characteristics, healthcare, and burden of disease information from patients and caregivers.

Objective: To summarize results from two large-scale Cure SMA surveys in 2017 and 2018.

Quality of life data for individuals affected by spinal muscular atrophy: a baseline dataset from the Cure SMA Community Update Survey.

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 SMA Clinical Trial Readiness Program: creation and evaluation of a program to enhance SMA trial readiness in the United States.

Spinal muscular atrophy (SMA) is a rare neuromuscular disease with a rapidly evolving treatment landscape. To better meet the needs of trial sponsors and the patient community in the United States (US) in this evolving context, Cure SMA established a clinical trial readiness program for new and prospective SMA clinical trial sites. Program development was informed by a review of the SMA clinical trial landscape, successful NMD trial and care networks, and factors important to effective trial conduct in SMA.

Spinal Muscular Atrophy (SMA) Subtype Concordance in Siblings: Findings From the Cure SMA Cohort.

Background: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by homozygous survival of motor neuron 1 (SMN1) gene disruption. Despite a genetic etiology, little is known about subtype concordance among siblings.

Objective: To investigate subtype concordance among siblings with SMA.

Evaluating Benefit-risk Decision-making in Spinal Muscular Atrophy: A First-ever Study to Assess Risk Tolerance in the SMA Patient Community.

Purpose: Patients' perceptions of benefit-risk 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 benefit-risk trade-offs in SMA associated with a potential therapy. We hypothesized that risk tolerance would be correlated with SMA type/severity and disease progression.

Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening.

Background: Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by the degeneration of alpha motor neurons in the spinal cord, leading to muscular atrophy. SMA is caused by deletions or mutations in the survival motor neuron 1 gene (SMN1). In humans, a nearly identical copy gene, SMN2, is present.

An overview of the Cure SMA membership database: Highlights of key demographic and clinical characteristics of SMA members.

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.

Barriers and facilitators to clinical trial participation among parents of children with pediatric neuromuscular disorders.

Background/aims: Pediatric rare disease presents a challenging situation of high unmet need and a limited pool of potential clinical trial participants. Understanding perspectives of parents of children who have not participated in trials may facilitate approaches to optimize participation rates. The objective of this study was to explore factors associated with parental interest in enrolling children with pediatric neuromuscular disorders in clinical trials.

An Evidence-Based, Community-Engaged Approach to Develop an Interactive Deliberation Tool for Pediatric Neuromuscular Trials.

Duchenne/Becker muscular dystrophy (DBMD) and spinal muscular atrophy (SMA) are rare neuromuscular disorders that present challenges to therapeutic and clinical trial decision making. We developed an interactive, evidence-based online tool designed to encourage thoughtful deliberation of the pros and cons of trial participation and to inform meaningful discussions with healthcare providers. Prior research demonstrates the importance of tool availability at the time each family is considering trial participation, which may be prior to the informed consent process.