Four-Year Experience of Spinal Muscular Atrophy Newborn Screening in Kentucky: Therapeutic Interventions and Clinical Outcomes


Clinical Management

Poster Number: S91


David Toupin, MD, University of Kentucky, Amanda Rogers, MD, Norton Children’s, Vaneet Arora, MD, MPH, University of Kentucky, Darrin Sevier, Kentucky Department for Public Health, Angela Crutcher, APRN, University of Kentucky, Allahshukur Ilgarli, MD, University of Kentucky, Emily Trammell, University of Kentucky, Katie Breetz, MD, Medical College of Wisconsin, Arpita Lakhotia, MD, Norton Children’s

Objective: Present the 4-year Spinal Muscular Atrophy (SMA) newborn screening experience in Kentucky

Background: SMA was added to Recommended Universal Screening Panel (RUSP) in 2018. SMA was added to Kentucky newborn screen (NBS) program on August 13th, 2019.

Methods: Data-sharing agreement was executed between University of Louisville and University of Kentucky. Information on positive SMA screenings carried out at the Division of Laboratory Services was provided by the Cabinet for Health and Family Services. Patients were followed up to 2 years of age and clinical outcomes evaluated.

Results: Between August 2019 and August 2023, 24 neonates screened positive, of which 19 (79.2%) were true positives. Of true positive cases, 13/19 were male and 13/19 were Caucasian. 1/19 (9%) had 1 SMN2 copy, 8/19 (42%) had 2 copies, 3/19 (16%) had 3 copies and 7/19 (37%) had 4 copies. Treatment was pursued in 17/19 patients. 15/17 received onasemnogene abeparvovec, 4/17 received nusinersen, and 6/17 received risdiplam. 7/17 patients received multiple treatments, and 1/17 received three treatments. From August 2019-2021, the median time to treatment was 48.5 days (range 16-331), whereas from August 2021-2023, the median time to treatment was 13 days (range 1-50).

All treated patients are living. 9 patients have 24-month follow-up data. All of these patients are ambulatory, although 8/9 have an abnormal neurologic exam. One child has a G-tube and receives cough assistance, otherwise, all children are without feeding or ventilatory support. One patient has scoliosis and two wear ankle orthotics. 7/9 receive regular therapy, with 4/9 receiving physical therapy, 2/9 receiving occupational therapy, and 4/9 receiving speech therapy.

Conclusions: Kentucky has a high rate of 4 copy cases compared to historical controls. The average time to treatment continues to decline. All treated patients are thriving; however, many still have developmental delays and abnormal neurological examinations.