Spinal muscular atrophy: an update for managed care pharmacists

Abstract

It is estimated that about one in 65 people are carriers of the gene mutation for spinal muscular atrophy (SMA), which causes degeneration of motor neurons and progressive muscle weakness affecting patients' ability to move, swallow, and breathe. The rapid progression of SMA and high rate of mortality have contributed to its designation as a recommended condition for which all newborns should receive screening. The majority of patients with SMA present with signs and symptoms by 3 months of age, but symptom onset can vary according to SMA type, thus affecting treatment decisions and making early diagnosis and treatment initiation imperative. Previously, management of SMA consisted primarily of supportive care with specialized equipment, such as ventilators and feeding tubes, physical and occupational therapy, and other expert care to maintain patient quality of life, with astronomical associated costs. However, use of disease-modifying therapies has the potential to change existing treatment protocols, normalize development, and increase survival, especially for patients in whom a diagnosis was received early. These therapies are also associated with high costs and are often subject to extensive barriers to access. To balance the costs of treatment with improvement of patient outcomes, managed care professionals and pharmacists must establish a framework for evaluating newly approved therapies and expediting the use of these agents in the treatment of SMA. Statement of Educational Need Recent drug approvals for the treatment of spinal muscular atrophy (SMA) have prompted the development of treatment guidelines along with recommendations for genetic testing for diagnosis. Due to the rarity of SMA, and the historical lack of pharmacotherapy, managed care pharmacists may not have exposure to this highly morbid disease state and medications. Cost of treatment must be considered, and managed care pharmacists need to be provided with the appropriate tools to make the best evidence-based formulary decisions and develop appropriate utilization management strategies. Educational Objectives Upon completion of this activity, participants should be able to: • Determine gold standards for treating spinal muscular atrophy (SMA) including updates to the 2020 revised recommendations. • Use the most up-to-date clinical data of approved therapies to aid in advancing treatment options and patient-specific protocols for SMA. • Employ strategies that allow access to patient-specific treatment protocols and the potential opportunities to offset costs in SMA. Accreditation Statement Pharmacy Times Continuing Education™ is accredited by the Accreditation Council for Pharmacy Education (ACPE) as a provider of continuing pharmacy education. This activity is approved for 2.0 contact hours (0.20 CEU) under the ACPE universal activity number 0290-0000-21-022-H01-P. The activity is available for CE credit through February 15, 2022. Obtaining Credit: Participants must read the article, complete the online posttest and an online evaluation and ...

Systematic Literature Review to Assess the Cost and Resource Use Associated with Spinal Muscular Atrophy Management

“…For a rare disease such as SMA, SLRs provide valuable knowledge of cost and resource use that is urgently needed to aid decisions about resource use allocation. Recently, the cost burden of SMA has been estimated to be 54.2 times greater for patients with SMA compared with a healthy population, with a predicted $4-$5 million cost for patients with early-onset SMA over a 10-year period [104].…”