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Cost And Quality Of Life In SMA Patients Before Symptoms Appear

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Cost And Quality Of Life In SMA Patients Before Symptoms Appear

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June 10, 2022
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Although therapies for spinal muscular atrophy (SMA) are costly, patients with SMA who were discovered and treated early had lower total financial expenditures and better quality of life (QOL) than patients who began treatment after symptoms began. According to the authors of the study, which was published in Developmental Medicine & Child Neurology, neonatal screening (NBS) has a beneficial influence.

SMA is a gradual muscle weakening that affects about 1 in 10,000 live births. SMA, in its most prevalent and severe form, kills or requires permanent ventilation in 94 percent of infants under the age of two. The other two types of SMA are linked with a severe motor disability but a life expectancy that is nearly equal to that of the general population.

According to the authors, some patients may be detected prior to the development of symptoms due to NBS or a sibling with SMA. SMA is treated with three authorized medicines. “Despite the significant burden and cost of SMA, these medications are exceedingly expensive relative to the benefit that they deliver to patients who are not treated until symptoms appear,” they stated.

The authors analyzed and compared the QOL and societal expenses of untreated patients, treated patients identified by the onset of symptoms, and treated patients identified prior to symptoms by testing in this study. The questionnaires filled out by the patients or their parents, as well as medical and financial records from hospitals, were collected by the researchers.

There were 149 patients that took part in the study. There were 93 untreated symptomatic patients between the ages of 2 and 59 years in the total study population; 81 patients had been followed up on from a study conducted in Belgium, France, and Germany between 2016 and 2018 (this-SMA); and 12 patients had been followed up on from a study conducted in Liege, Belgium, among neuromuscular reference centers (Liege NMRC).

Because of the high cost of SMA therapies, overall expenses for treated patients were much greater than for untreated people. When compared to treated symptomatic patients, those who were not recognized by symptoms had reduced total expenses.

“When treatment costs were not taken into account, the direct expenditures for patients who were not recognized by symptoms were statistically substantially lower than those for untreated and treated symptomatic individuals,” the researchers wrote. After treatment costs were deducted, the direct costs for untreated and treated symptomatic patients were compared

The authors noticed that the expenses of untreated patients in southern Belgium were comparable to prices reported in analyses from France, Germany, Spain, and the United Kingdom. Patients in the United States and Australia faced much greater costs, particularly those suffering from the most severe form of the condition.

Pediatric Quality of Life Inventory (PedsQL) Generic Core Scales and the PedsQL neuromuscular module was used to assess QOL (NMM). When compared to the other groups, patients who were not recognized by symptoms had higher scores, “although the sample size was too small to make a formal comparison.”

The Health Utilities Index was used to assess health-related QOL (HUI). Scores were substantially higher for patients who were not recognized by symptoms, and several of these patients achieved full health according to the HUI scale. Patients who were not recognized by symptoms had better motor development than symptomatic patients who were treated.

Overall, the authors concluded that identifying patients sooner results in short-term savings when therapy is accessible. They stated that more research is needed to validate NBS’s long-term cost-effectiveness.

“These data are significant because they are derived from a real-life perspective collection,” stated senior author Laurent Servais, Ph.D., of the University of Liege in Belgium and the University of Oxford in the United Kingdom. “They clearly show that as long as the choice to reimburse SMA treatments has been made, newborn screening becomes a no-brainer—not just because it gives patients a significantly brighter future, but also because it saves the taxpayer a large amount of money.” We are now developing a model that calculates the lifetime cost of various tactics using data from the real world.”

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