Medical Costs Lower if Treatment Is Started Before Symptoms: Study

Marisa Wexler, MS avatar

by Marisa Wexler, MS |

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The total medical costs associated with spinal muscular atrophy (SMA) are lower for patients diagnosed at birth via newborn screening, compared with those diagnosed after they start showing symptoms of the disease, a new study has found.

These findings “demonstrate clearly that as long as the decision to reimburse treatments for SMA has been made, newborn screening becomes a no-brainer — not only because it gives patients a much better future, but also because it saves a significant amount of money for the taxpayer,” senior author Laurent Servais, PhD, of the University of Liege and the University of Oxford, said in a press release.

The study, “Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening,” was published in Developmental Medicine & Child Neurology.

Three new treatments for SMA have become widely available in the past decade. With all of these therapies, data generally show that clinical outcomes are better when treatment is initiated as early as possible, with the best outcomes typically seen before any overt symptoms occur. As such, there has been a push to expand newborn screening (NBS) for SMA in recent years.

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A team of scientists in Europe sought to compare the medical costs and quality of life of people with SMA who started treatment before or after developing symptoms.

“Although drug treatment has a transformative effect on the condition of patients who are treated before symptom onset, to our knowledge no published reports have compared the costs and quality of life (QoL) of treated patients with SMA identified by symptoms or before symptom onset. These data are necessary to assess the economic value of NBS,” the researchers wrote.

Their analysis included data from two groups of patients who were evaluated between 2016–2018 or 2018–2021.

“These data are important as they are issued from a real-life prospective collection,” Servais said.

In total, there were 42 patients who started treatment only after presenting symptoms, and 14 diagnosed before showing any symptoms. Of these, 10 were diagnosed via NBS, and the other four by testing performed because a sibling had been diagnosed with SMA.

Researchers noted that not all patients diagnosed before showing symptoms actually started treatment before any symptoms had developed, though all generally started treatment early.

Among the treated patients, 38 were on Spinraza (nusinersen), 13 were on Evrysdi (risdiplam), and five had been given gene therapy. The analysis also included data for 93 patients who showed symptoms, but were not given treatment.

The cost of medical care was significantly higher overall for patients who were treated compared with untreated patients. This was mainly driven by the high cost of medicines approved to treat SMA. Among treated patients, the overall cost was significantly lower for those who had been diagnosed before showing any symptoms.

Costs were similar between untreated patients and those who did not start treatment until showing symptoms, according to analyses that did not take into account the cost of SMA medications. Conversely, costs were significantly lower for patients diagnosed before showing symptoms. Researchers noted this difference was driven in large part by hospitalizations; patients who started treatment early were much less likely to be hospitalized.

“Medical costs (excluding the cost of treatment) were lower in treated patients … These data demonstrate the positive impact of treatment. Nevertheless, the prohibitive costs of treatment led to much higher overall costs in treated versus untreated patients, irrespective of the manner in which they were identified,” the researchers wrote.

Across a battery of quality of life scales, outcomes were generally better for patients who were diagnosed before showing symptoms, though researchers noted that sample sizes were too small for formal statistical comparisons. The small number of patients diagnosed before showing symptoms was noted as a limitation, in particular.

The finding “clearly suggests the positive impact of NBS on disease-related costs,” the researchers wrote. “Our data suggest that if a treatment is available, identifying patients early results in significant short-term savings.

“Longer follow-up and larger cohorts are needed to confirm the long-term cost-effectiveness of NBS,” they wrote.