Spinal muscular atrophy (SMA) is a disease that affects thirty newborns in Australia each year. Known as a progressive peripheral nerve disease, it results in irreversible muscle weakness and wasting. In its severest, untreated form, it was known as the leading genetic cause of infant mortality and even in children with milder presentations, significant disability ensues. The therapeutic landscape for SMA is being transformed, with the first disease modifying treatments that may extend quality and quantity of life. In clinical trials, these treatments appear to have the greatest utility and impact when given prior to onset of signs and symptoms of the disease. Subsequently, there is an emerging urgency to diagnose children before symptoms develop. Newborn screening for SMA provides a framework for early identification of affected children, facilitating a precision medicine approach to management.
Whilst the literature to date has concentrated on the screening methodologies, clinical processes and short-term outcomes for children and their families screening positive for SMA through newborn screening programs, there is a distinct lack of evidence on the long-term clinical and patient reported outcomes for this population. Patient reported outcomes are vital as they provide insight into meaningful changes in daily function and wellbeing of children screening positive for SMA.
A newborn screening pilot program for SMA commenced in New South Wales and ACT in 2018 and our research group has already evaluated the implementation of the program, including the newborn screening (laboratory) methodology, parental experience, feasibility, and the screening/diagnostic pathway. However, with the above evidence gaps in mind, the innovative nature of the current study using a historical comparator group, incorporating patient centred measures such as quality of life indices and conducting the study across the rapidly changing diagnostic and therapeutic landscape, enables us to assess whether a drive towards a precision medicine approach through newborn screening for SMA, should continue beyond a pilot framework. Accordingly, the results of our study will provide essential answers on whether newborn screening for SMA is clinically beneficial and changes health and psychosocial outcomes in a meaningful way for our patients and their families. The results of this study will subsequently contribute to the decision-making criteria for routine national adoption of newborn screening for SMA in Australia, and therefore will form an integral part of the submission to effect policy change across state and territory borders.