Implementation of a care pathway for the evaluation and treatment of pre-symptomatic infants with SMA identified via newborn screening


Newborn Screening

Poster Number: 119


Sarah VanDine, DO, Leslie Delfiner, MD


1. Albert Einstein College of Medicine Montefiore Medical Center, 2. Albert Einstein College of Medicine Montefiore Medical Center

Background: The availability of time sensitive therapies for spinal muscular atrophy (SMA) has prompted inclusion of this disorder on the newborn screen (NBS) in many states. Evidence that pre-symptomatic treatment improves outcomes underscores the need for rapid initiation of care. Clinical pathways are tools that streamline access to healthcare resources and improve patient outcomes, and can hasten time to care in SMA.

Objectives: Develop a clinical pathway to rapidly assess and treat infants identified with SMA who have been triaged to our center. Build a systematic approach to: (1) multidisciplinary evaluation of the patient, (2) confirmation of diagnosis, and (3) prior authorization (PA) approval.

Approach: After conducting a literature review, our MDA Care Center team organized to address the following components of the care pathway: clinical evaluation, confirmatory testing, counseling, and administrative/logistical planning. Initial clinical evaluation was planned to include neurologic assessment, standardized functional testing, and swallow/pulmonary evaluations within 48 hours of NBS result. The administrative arm of the pathway assured same-day PA submission on the time of NBS result. An administrative team was tasked to ensure PA approval.

Results: The first patient was referred to our center on day of life (DOL) 7, activating the pathway. Initial clinical evaluation occurred on DOL 8. Physical Therapy, Swallow, and Pulmonary assessments were performed on DOL 9. PA and drug procurement plan were completed on DOL 14. Treatment with gene replacement therapy was given on DOL 16.

Conclusions: This pathway utilizes a standard operating procedure to access multidisciplinary clinical evaluation and simultaneously procure an expensive therapy on an emergent basis. Feedback from the administrative and clinical teams will allow for streamlining the clinical pathway to further minimize time to treatment for newborns with SMA.