The purpose of this study is to collect and evaluate self-reported current motor function and SMN2 copy number among patients with spinal muscular atrophy (SMA) from the Cure SMA network, a non-profit SMA patient advocacy organization.

SMA has been traditionally classified into four types based on age of onset and milestones achieved to describe the severity of disease. Due to implementation of statewide newborn screening of SMA and advances in treatment, patients are being diagnosed pre-symptomatically or developing motor functions atypical for their SMA type. For example, in a recent online survey hosted by Cure SMA, it was found that almost 40% of type I patients can sit unsupported. Therefore, there is a need to collect data on the SMA patient community that will not change over time, such as SMN2 copy number. The Cure SMA Industry Collaboration, in partnership with Snow Companies, a patient engagement firm, collected self-reported SMN2 copy number and motor function to describe the current SMA phenotype.

A 10-question telephone survey was developed by the Cure SMA Industry Collaboration and conducted by Snow Companies. Interviewers called families within the Cure SMA network and asked parents or affected adults to complete a survey. Efforts to connect with families for an interview were made for a maximum of three times before closing the account. Families that completed an online Community Update Survey that asked similar questions were excluded from the call list.  

Results from the telephone survey will be presented both independently of the online community update survey and also in conjunction with the online survey. Demographics of survey responders will be presented. Descriptive statistics of SMN2 copy number will be presented both by SMA type and current motor function.

Findings from this study will help future studies assessing the changing phenotype through stable measures.