The SMA Clinical Trial Readiness Program: creation and evaluation of a program to enhance SMA trial readiness in the Uni
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(2020) 15:118
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The SMA Clinical Trial Readiness Program: creation and evaluation of a program to enhance SMA trial readiness in the United States Ilse Peterson1, Rosángel Cruz2* , Fatou Sarr1, Ann Marie Stanley1 and Jill Jarecki2
Abstract 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. The program was piloted in 2018 with a virtual site readiness evaluation, a trial readiness toolkit, and a readiness program for physical therapists and clinical evaluators. Nine US research hospitals participated in the pilot. Cure SMA evaluated the pilot program and resources through feedback surveys, which supported the program’s relevance and value. Since 2018, the program has been expanded with additional sites, new best practices toolkits, and workshops. In partnership with Cure SMA, SMA Europe is also extending programming to European countries. The program is significant as an example of a patient advocacy group working successfully with pharmaceutical companies, other patient advocacy organizations, and research hospitals to promote trial readiness, and may serve as a model for organizations in other regions and diseases. Keywords: Spinal muscular atrophy, Rare disease, Clinical trial coordination, Clinical trial readiness, Clinical trial best practices, Physical therapist and evaluator readiness, Rare disease clinical trial
Background Spinal muscular atrophy (SMA) was historically the number one genetic cause of death for infants, with an estimated incidence between 1 in 10,000 to 11,000 live births [1, 2]. It is an autosomal recessive neuromuscular disease (NMD) caused by a homozygous deletion or mutation of the survival motor neuron 1 (SMN1) gene on chromosome 5q13, characterized by progressive muscle wasting and debilitating weakness [3–7]. The disease has been classified into subtypes based upon age of onset and motor function achieved [4, 8–10]. Type I has onset in * Correspondence: [email protected] 2 Cure SMA, Elk Grove Village, IL, USA Full list of author information is available at the end of the article
infancy and is the most severe and common subtype (representing 50–60% of diagnoses), whereas types II, III, and IV represent later onset, milder phenotypes [4, 9–15]. Over the past two decades, understanding of SMA pathogenesis, natural history, and treatment pathways has evolved significantly. Major advances began with identification of the genes SMN1 and SMN2, the latter of which is a partially functional analog whose copy number is inversely correlated with disease severity [3, 16]. Subsequent advances included devel
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