The top 5 most-read spinal muscular atrophy stories of 2021 on AJMC.com covered a variety of topics concerning the disease, including cost differences, the potential for combination therapies, and identifying biomarkers for treatment.
The most clicked-on pieces of content in 2021 that addressed spinal muscular atrophy (SMA) covered a variety of topics regarding the disease, including some articles that addressed metabolic and nutritional issues associated with SMA, as well as how to improve outcomes-based managed entry agreements.
Other pieces touched on the future of combination therapies for SMA and how costs for SMA management differ around the world.
5. SMA Associated With Metabolic, Nutritional Issues
Researchers analyzed data on metabolic and nutritional issues associated with SMA, finding that the impact of survival motor neuron deficiency may extend past motor neurons. Some of the documented issues that were reported included lipid metabolic abnormalities, glucose metabolic abnormalities, and altered vitamin levels. Several serum fatty acids and lipids were identified as correlating with motor function in SMA and could have the potential to be leveraged as biomarkers for treatment.
4. Improving Outcomes-Based Managed Entry Agreements for SMA Therapy
Study results showed that innovative therapies for rare diseases, including SMA, when paid for by public budgets in the European Union and elsewhere, are often managed through agreements made by payers and drug companies. However, these outcomes-based managed entry agreements can be difficult to implement and should be considered as an exception rather than a rule. Information on these agreements can also be hard to find, sometimes due to the confidential commercial information that is involved.
3. Dr Vamshi Rao Discusses the Future of Combination Therapy in SMA
Vamshi Rao, MD, is an attending physician of neurology at Ann and Robert H. Lurie Children’s Hospital of Chicago and assistant professor of pediatrics (neurology and epilepsy) at Northwestern University Feinberg School of Medicine, talked about the future of combination therapy in the SMA space. With 3 therapies approved, the push for and interest in combination therapy has grown in general. Rao also discussed his hope for more real-world evidence on its usage.
2. Researchers Highlight Emerging Concepts Underlying Selective Neuromuscular Dysfunction in SMA
A group of researchers outlined available evidence for emerging molecular and cellular mechanisms that have been implicated in selective neuromuscular dysfunction in infants with SMA. The review containing data over a 25-year period highlighted the importance for research regarding emerging concepts, which can offer insight into the success of SMA treatments, and demonstrated why proximally innervating motor neurons are selectively vulnerable in SMA.
1. SMA Costs Vary Widely Around the World by Disease Type
Study results showed that reliable data on the costs associated with SMA are scarce and that key questions have been left unanswered as high-priced therapies continue to change the SMA treatment landscape. The researchers found only 14 studies from 8 countries, which revealed a wide range of costs based on disease phenotype and the country in which the study was conducted, ranging from $3320 in Italy to $324,210 in the United States.