Management and current status of spinal muscular atrophy: a retrospective multicentre claims database analysis

Abstract

Introduction: The interest in patient demographics and disease management has increased in the past years due to their utility in developing measures that allow healthcare providers to reflect disease complexity. Objective: To revise the current status of spinal muscular atrophy in the region of Catalonia, and to validate the utility of the database for this aim. Methods: Five hundred twenty-four patients diagnosed with a spinal muscular atrophy were identified in the region of Catalonia via the novel program of data analysis for research and innovation in health (PADRIS). Patient records included in the analysis corresponded to primary care, hospital, emergency room, extended care and mental health admissions between 2007 and 2017. Results: 58.02% of patients with a SMA diagnosis were males while 40.84% were females. Average age of diagnosis was 38.31 ± 24.49 years ±SD. Significantly lower was the age of diagnosis of spinal muscular atrophy type I, 1.81 ± 3.01 years. An average of 22 patients died per year during the study period, with a mean decease age of 62.96 ± 25.41 years. Patients were generally attended in hospitals, and the use of healthcare resources was focused on resolving respiratory issues and scoliosis. The highest ratio of admissions per patient was registered in those aged 0 to 4 years. Patients presented a higher risk than the general population and a higher frequency of multimorbidites. Conclusions: Patients exhibited similar characteristics to prior European studies. Multiple admissions in younger patients, mostly due to respiratory issues, have a central role in increasing medical costs of SMA. Equally, the higher risk of patients and increased number of multimorbidity groups translate in an elevated number of admissions in health centres and ER, deriving in higher expenses.

Biomarkers in Glycogen Storage Diseases: An Update

“…This is particularly detrimental in neutrophils since their energy metabolism depends almost entirely on glycolysis. Treatment with a sodium-glucose transport protein subtype 2 (SGLT2) inhibitor released the blockage and allowed neutrophil maturation [ 50 ]. Five GSDIb patients (3 children and 2 adults) were treated with a SGLT2 inhibitor and improved their heterogeneous clinical findings related to neutrophil dysfunction [ 50 , 51 ].…”

“…Treatment with a sodium-glucose transport protein subtype 2 (SGLT2) inhibitor released the blockage and allowed neutrophil maturation [ 50 ]. Five GSDIb patients (3 children and 2 adults) were treated with a SGLT2 inhibitor and improved their heterogeneous clinical findings related to neutrophil dysfunction [ 50 , 51 ]. Based on this, 1,5AG could be a good candidate to be a biomarker for treating neutropenia in GSDIb and G6PC3-deficient patients.…”

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

“…The publications comprised data from 14 countries, including the USA (n = 20) [48-50, 53, 54, 56, 57, 60, 63, 70, 74, 77, 80, 84-86, 88, 91-93], UK (n = 5) [52,68,81,89,98], Italy (n = 2) [59,83], Australia (n = 2) [64,71], Canada (n = 1) [75], Germany (n = 1) [55], Croatia (n = 1) [87], Korea (n = 1) [65], Japan (n = 1) [66], France (n = 1) [79], Spain (n = 4) [58,72,73,78], Sweden (n = 1) [61], Russia (n = 2) [94,97] and Turkey (n = 1) [96]. Seven studies reported multi-national data [62,67,69,76,82,90,95].…”

“…Cost drivers (factors that create or drive the cost of management) associated with SMA were reported in 28 studies [50, 53-61, 64, 68, 70-79, 83-85, 92, 94, 97]. Major cost drivers included the requirement for inpatient care (n = 22) [50, 53-56, 58, 60, 68, 70-74, 76-79, 84, 85, 92, 94, 97], use of outpatient services or specialist visits (n = 16) [50, 53-55, 58-60, 70-74, 76, 78, 84, 85], respiratory care (n = 10) [50,54,55,57,61,70,71,73,78,83], rehabilitation (n = 4) [50,55,79,97], orthopaedic care (n = 2) [61,83], prescription costs (excluding DMT-related costs) [n = 8] [50, 53,58,60,74,76,77,84], home stays (n = 3) [58,70,79] and structural changes to the house or car (n = 6) [55,59,60,64,71,75]. One study reported cost drivers to be type dependent, with Type 1 SMA costs driven by respiratory care, and Types 2 and 3 SMA costs driven by orthopaedic care [83].…”

“…However, a sensitivity analysis to test the robustness of findings was rarely conducted. Limitations of individual studies included: (1) small sample sizes because of the rarity of the disease (n = 11) [50, 58-60, 62, 64, 65, 68, 69, 76, 77]; (2) potential biases and inability to adjust for confounding factors in retrospective and cross-sectional study designs (n = 5) [55,58,65,68,76]; (3) potential underestimation of costs due to consideration of indirect costs only or restriction of costs to a particular setting, such as a hospital (n = 7) [50,53,54,59,68,74,77]; (4) inherent limitations of claims databases including the potential for coding errors and other inaccuracies (n = 9) [50,53,56,60,70,72,73,77,78]; (5) limited generalisability of results beyond study settings, i.e. to different countries and healthcare systems (n = 5) [50,53,64,70,77], ( 6) reliance of self-reported data, which may lead to potential recall or response bias (n = 4) [52,58,69,75]; (7) potential selection bias due to recruitment of patients via advocacy groups or organisations (n = 4) [52,55,58,76]; and (8) estimates calculated before approval of nusinersen; therefore, estimates may not be reflective of patients treated with this DMT (n = 1) [54].…”