Cure SMA is pleased to announce the publication of “Impact of early intervention on motor milestone achievement in spinal muscular atrophy: Insights from Cure SMA survey data” in the April 2026 issue of Neurology and Therapy.
Since 2017, Cure SMA has been collecting patient- and caregiver-reported data through the annual Community Update Survey (CUS). The CUS tracks demographics, the use of healthcare services, and the evolving unmet needs of people living with SMA. The results from these surveys are published in the yearly State of SMA Report and are used to guide SMA research, clinical care, and advocacy.
In this study, we used CUS data from 2020 through 2024 to understand which factors had the strongest impact on motor milestone development in children with 2 or fewer SMN2 copies.
We found that:
- Children treated with an SMA disease-modifying therapy (DMT) before 3 weeks of age had a 13.4 greater odds likelihood of achieving higher motor milestones than those who received their first treatment after 4 months of age.
- Diagnosis of SMA through prenatal screening and/or newborn screening was associated with an 8.1 greater odds likelihood of achieving higher motor milestones than diagnosis after symptoms appeared.
- Treatment with multiple therapies (referred to as “polytherapy” in the study) was associated with a 2.4 greater odds likelihood of achieving higher motor milestones than treatment with a single DMT.
This study provides real-world insights into the motor function development of children with 2 or fewer SMN2 copies, highlighting the importance of early diagnosis and treatment initiation in achieving high-level motor milestones.
Cure SMA is grateful to all the families who made this study possible by taking part in the annual Community Update Survey.
Read more about this study in “Impact of early intervention on motor milestone achievement in spinal muscular atrophy: Insights from Cure SMA survey data,” by KAK Lawrence, L Belter, M Curry, C Tak, and M Schroth.
Funding for this research was provided by members of the 2022 SMA Industry Collaboration; members included Cure SMA, Biogen, Genentech/Roche Pharmaceuticals, Scholar Rock, Novartis Gene Therapies, Biohaven Pharmaceuticals, Epirium Bio, and SMA Europe. It is currently comprised of our partners at Novartis, Scholar Rock, Biogen, Genentech/Roche, argenx, NMD Pharma, and SMA Europe.
Key Definitions:
demographics: Traits such as age and race that describe people within a group.
disease-modifying therapy (DMT): A treatment that targets the underlying cause of a disease. The four FDA-approved disease-modifying therapies for SMA are Evrysdi (risdiplam), Itvisma (onasemnogene abeparvovec-brve), Spinraza (nusinersen), and Zolgensma (onasemnogene abeparvovec-xioi). Each of these treatments works by increasing levels of SMN protein.
greater odds likelihood: An increased chance.
motor milestone: A physical movement or skill that a child achieves as they get older.
SMN2 copy number: The number of copies of the SMN2 gene a person has. In SMA, having more SMN2 copies generally helps the body make more SMN protein and is often linked with less severe disease.