In the first 3 years of universal newborn screening for spinal muscular atrophy in New York State, 94% of the 34 identified infants received treatment, with all 3-copy SMN2 infants remaining asymptomatic.
Observational (n=34)
Yes
Universal newborn screening for SMA in New York State successfully identified affected infants, leading to early treatment and improved clinical outcomes, though medical and nonmedical barriers to treatment remain.
Background and Objectives Spinal muscular atrophy (SMA) was added to the Recommended Uniform Screening Panel in July 2018 largely on the basis of the availability and efficacy of newly approved disease-modifying therapies. New York State (NYS) started universal newborn screening for SMA in October 2018. The authors report the findings from the first 3 years of screening. Methods Statewide neonatal screening was conducted using DNA extracted from dried blood spots using a real-time quantitative PCR assay. Retrospective follow-up data were collected from 9 referral centers across the state on 34 infants. Results In the first 3 years since statewide implementation, nearly 650,000 infants have been screened for SMA. Thirty-four babies screened positive and were referred to a neuromuscular specialty care center. The incidence remains lower than previously predicted. The majority (94%), including all infants with 2–3 copies of survival motor neuron (SMN) 2, have received treatment. Among treated infants, the overwhelming majority (94%; 30/32) have received gene replacement. All infants in this cohort with 3 copies of SMN2 are clinically asymptomatic posttreatment based on early clinical follow-up data. Infants with 2 copies of SMN2 are more variable in their outcomes. Electrodiagnostic outcomes data obtained from a subgroup of patients (n = 11) demonstrated either improvement or no change in compound muscle action potential (CMAP) amplitude at last clinical follow-up compared with pretreatment baseline. Most infants were treated before 6 weeks of age (median = 34.5 days of life; range 11–180 days). Delays and barriers to treatment identified by treating clinicians followed 2 broad themes: medical and nonmedical. Medical delays most commonly reported were the presence of AAV9 antibodies and elevated troponin I levels. Nonmedical barriers included delays in obtaining insurance and insurance policies regarding specific treatment modalities. Discussion The findings from the NYS cohort of newborn screen-identified infants are consistent with other reports of improved outcomes from early diagnosis and treatment. Additional biomarkers of motor neuron health including EMG can potentially be helpful in detecting preclinical decline.
Lee et al. (Thu,) conducted a observational in Spinal muscular atrophy (SMA) (n=34). Disease-modifying therapies (onasemnogene abeparvovec, nusinersen, risdiplam) was evaluated on Treatment initiation rate among screen-positive infants. In the first 3 years of universal newborn screening for spinal muscular atrophy in New York State, 94% of the 34 identified infants received treatment, with all 3-copy SMN2 infants remaining asymptomatic.