Spinal muscular atrophy: epidemiology and health burden in children — a Polish national healthcare database perspective before introduction of SMA-specific treatment

Abstract

Introduction: Spinal muscular atrophy (SMA) is one of the most frequent autosomal recessive neuromuscular disorders. It leads to progressive muscle weakness, premature death or permanent ventilation. Significant disability, scoliosis, severe pulmonary infections and other problems require in-and outpatient medical care. Various approaches have been used to evaluate SMA epidemiology, healthcare burden and adherence to standard of care. The recent introduction of pharmacological treatment in a large SMA population will change the course of the disease and the healthcare requirements of patients. Material and methods:We have used the National Health Fund database to identify children with SMA and the healthcare service they received in the pre-pharmacological treatment era. Pivotal phase II and III medical trials for nusinersen were conducted between 2013 and 2015. The National Treatment Programme of SMA patients with nusinersen in our country was started in January 2019. The year 2014 was used to evaluate incident cases.Results: 51 new SMA cases (incidence 1:7,356) and 518 SMA patients younger than 18 were identified in 2014. 32 (6.2%) deaths were recorded, half in the first two years of life. 35 (6.8%) patients received palliative and 115 (22.2%) long-term care (including assisted ventilation). A total number of 3,057 days of hospital stay were reported. Only 65/518 (12.6%) patients did not receive publicly-funded healthcare service other than specialist or general practitioner's consultation.Conclusions: SMA caused significant mortality and morbidity in children. The National Health Fund database can be used to reliably record incident cases and track the care provided to paediatric SMA patients.

Real World Evidence on the Effectiveness of Nusinersen within the National Program to Treat Spinal Muscular Atrophy in Poland

“…A key strength of the data presented herein is the fact that they pertain to the total population of patients with SMA. Data on Polish patients were analyzed previously [5] and focused on the epidemiology and standards of care for patients with SMA before the initiation of the drug program, which granted access to the first causal treatment to all patients. This work builds on results published there, as we greatly extended the size of the population covered.…”

“…The patient was later followed up based on his or her unique identifier, regardless of other concomitant diagnoses or reasons for interaction with the public healthcare system. It is the same approach as published in [5], that reduces the probability of including patients with a single or unsure diagnosis. Retrograde analysis of patients with SMA included in the drug program of patients based on inclusion into the drug program would be insufficient since many of the patients born in 2014 have died or were put on mechanical ventilation before nusinersen was available.…”

“…With improved access to genetic testing and the introduction of newborn screening programs, accurate epidemiological data become available. The estimated incidence of SMA in Poland is 1:7356 live births [5]. The approximate SMA patient population size has been estimated at 1100 cases [6].…”

Doświadczenia polskich ośrodków zajmujących się leczeniem pacjentów z rdzeniowym zanikiem mięśni.

“…Uzyskane wyniki są w większości zgodne z wcześniejszymi publikowanymi danymi na temat zależności między liczba kopii genu SMN2 a typem SMA [37], częstością poszczególnych typów SMA . [3,[38][39] W kontekście refundowanej w Polsce terapii nusinersenem interesujące są dane dotyczące zależności występowania skoliozy u pacjentów z SMA oraz czynników wpływających na ryzyko skoliozy w tej chorobie. Największa jak dotychczas opublikowana praca dotycząca skoliozy w SMA obejmowała 283 pacjentów [40] i wykazała, że ryzyko zaawansowanej skoliozy jest najwyższe w typie 1c i 2 SMA.…”