Screening, education, early treatment urged

Spinal muscular atrophy (SMA), a severe, progressive neuromuscular disease that often presents in infancy or childhood, was economically daunting and affected health-related quality of life (QoL) in the period before disease-modifying therapies were available, an analysis of hospital records, insurance claims, and surveys in Australia showed.

The average total annual cost of SMA per household was $143,705 (in 2017 U.S. dollars) per child, reported Georgina Chambers, PhD, of University of New South Wales, and coauthors. Caregivers frequently faced financial difficulty and loss in health-related quality of life was substantial.

“Our results demonstrate the substantial and far-ranging economic burden on households and society of SMA,” they wrote in Neurology. “The burden of SMA cannot be reduced to economic costs alone, and the significant impact on patient and caregiver quality of life reported in our study and by others is sobering.”

“Our study contributes to the understanding of the full societal burden of SMA and is essential to fully understanding the costs, benefits, and cost-effectiveness of new therapies for SMA treatment,” they added.

The study looked at patients with SMA type I, II, or III. SMA type I is most severe, with onset before 6 months; untreated patients die before age 2. Type II is intermediate, with onset at 6 to 18 months; untreated patients never stand or walk unassisted and may live to young adulthood. Type III onset is after 18 months and patients walk independently but may eventually require a wheelchair and have a normal lifespan with supportive care.

From data collected on 40 patients between 2016 and 2017, average annual costs per household of SMA type I was $229,346 (n=4). For SMA type II, it was $150,909 (n=26); for SMA type III, it was $94,948 (n=10).

The researchers also found that:

  • Loss of income and unpaid informal care made up 24.2% and 19.8%, respectively, of annual SMA costs
  • Over three-quarters (78%) of caregivers had financial difficulty because of care demands
  • Health-related QoL was low, with average caregiver and patient scores of 0.708 and 0.115, respectively (0=death and 1=full health); most caregivers experienced some problems with their own mental or physical health

In an accompanying editorial, Haluk Topaloglu, MD, of Hacettepe Children’s Hospital in Ankara, Turkey, and Nancy Kuntz, MD, of Lurie Children’s Hospital in Chicago, noted that “these results indicate a continuing need to provide comprehensive supportive multidisciplinary care and to link health with other sectors to improve services for people and families with SMA, including education, welfare, housing, and legislation.”

The analysis took place on the cusp of challenging changes in available treatments for SMA. In 2016, the first disease-modifying therapy was approved in the U.S. — intrathecal nusinersen (Spinraza), for adults and children with any SMA type. Before this, treatment was supportive and symptomatic, focusing on pulmonary, orthopedic, and gastrointestinal complications of progressive weakness and immobility. In 2019, the FDA approved gene therapy with intravenous onasemnogene abeparvovec (Zolgensma) for SMA type I.

“These therapies are very expensive, currently costing millions of dollars per individual, leading to escalating concerns by the scientific community,” the editorialists noted.

“The medical community does not want to refrain from treating these children and adults with SMA, so the question is, how will health care systems or individual families pay for this?” they added.

To quantify baseline pre-treatment-era household burden associated with SMA types I, II, and III, the authors analyzed information about 40 Australian patients up to 21 years old and their families between 2016 and 2017. Data from hospital records, insurance claims, and questionnaires were used.

Costs were classified as direct (outpatient services; travel for appointments; nonsurgical hospital stays; respite, home, and community paid care; medications; mobility and medical equipment; daily supplies; and vehicle and home modifications) or indirect (care by parents and extended family beyond what would be provided to an unaffected child, and loss of income). Health-related QoL was rated with questionnaires by caregivers and some patients.

Direct costs accounted for 56% of total costs, including an average of $27,000 in home care, $9,200 in medical aids, and $9,200 in non-reimbursed hospital expenditures.

The average total indirect health care costs for all SMA types were $63,145 yearly and were highest in families affected by SMA type II. Direct costs were higher in SMA type I, while indirect costs due to income loss of parents and informal care were highest in children with SMA type II.

“With evidence reporting the greatest improvements in survival and motor function in those with early treatment initiation, highlighting the value of early diagnosis of SMA, newborn screening may substantially reduce the cost of supportive care for affected individuals,” Chambers and co-authors noted.

“Provision of information about genetic carrier screening to women planning pregnancy, which is now recommended by the American College of Medical Genetics and Genomics and the American College of Obstetricians and Gynecologists, allowing couples at risk of having children with SMA choices to plan reproductive and treatment options” is important, they added.

Limitations of the study include a low response rate to the surveys: 39% of those initially sent questionnaires made up the 40 households.

  1. Spinal muscular atrophy (SMA), a severe, progressive neuromuscular disease that often presents in infancy or childhood, was economically daunting and affected health-related quality of life in the period before disease-modifying therapies were available, an analysis of hospital records, insurance claims, and surveys in Australia showed.

  2. The average total annual cost of SMA per household was $143,705 (in 2017 U.S. dollars) per child. Caregivers frequently faced financial difficulty and loss in health-related quality of life was substantial.

Paul Smyth, MD, Contributing Writer, BreakingMED™

Grant support for this study was provided by the Motor Neurone Diseases Research Institute of Australia Beryl Bayley MND Postdoctoral Fellowship.

Chambers reported no disclosures.

The editorialists reported no relevant disclosures.

Cat ID: 130

Topic ID: 82,130,730,130,192,925