Spinal Muscular Atrophy

Principal Investigator: Kathryn J. Swoboda, MD, FACMG

Institution: Motor Disorders Research Program Department of Neurology - University of Utah

Project Start Date: April 20, 2011

Project End Date: March 31, 2016

Project Uses: VRDBS, LDPR

vrdbs, and ldpr

“Newborn screening for identification and prospective follow-up of infants with SMA”

With an incidence of 1 in 10,000 births, Spinal Muscular Atrophy (SMA) is one of the most common lethal genetic diseases. In the past decade, the development and increasingly widespread implementation of standard of care protocols and proactive nutritional as well as respiratory support has dramatically improved survival in babies with the severe infantile variant, SMA type I, which accounts for more than 50% of affected children. However, improved survival has not resulted in improved motor outcomes in those identified following the onset of symptoms, largely due to rapid progression during the acute phase, followed by a plateau phase characterized by up to several years of functional stability.  

This study is implementing a multi-state, multi-region newborn screening (NBS) pilot study to assess the feasibility of a DNA-based assay for homozygous SMN1 deletion to detect infants at risk for the development of SMA, in the NBS laboratory setting. In doing so, the research team hypothesize: 1) that the incidence of affected newborns will parallel predictions from early pilot data, and 2) that identification of infants at risk for SMA via NBS will improve outcomes, including morbidity, mortality, and motor function, as compared to a natural history cohort provided the same proactive nutritional, respiratory, and clinical care protocols via a subspecialty-based medical home. In the current application, the investigators will also explore ethical, regulatory, and policy issues regarding the use of NBS to pilot screen for SMA to identify the most optimal consent model. To attempt to improve outcomes in the pre-symptomatic population identified with NBS, they will implement and assess the impact of a multidisciplinary approach to management on health outcomes of SMA infants identified via the proposed pilot. Screening 400,000 newborns, the investigators expect to identify at least 40 infants at risk for SMA.  The investigators worked with the NBSTRN staff to create standardized case report forms for SMA within the LPDR and plan to deposit diagnosed cases in the VRDBS.

For more information about this project please contact the PI at Swoboda@genetics.utah.edu.