About

S.M.A.R.T.I.E.S.

Our Mission:

Tracking the development of infants with SMA who have received gene therapy with onasemnogene abeparvovec (OA) (Zolgensma).

What is SMA?

Spinal Muscular Atrophy (SMA) is caused by a homozygous deletion of the Survival Motor Neuron 1 gene (SMN1).  A similar gene, SMN2, produces a fraction of the protein of SMN1 and as such the severity of SMA is determined by the number of copies of SMN2 the child has. Before treatment became available, those with the most severe form were expected to develop gross motor regression in infancy, as well as life limiting breathing and feeding difficulties by 2 years of age. To date, little is known about the development of children with SMA who have received gene therapy.

How do I know if my child has SMA?

Currently children with SMA are identified via newborn screening in all 50 states. Your pediatrician will contact you with this information.

What is the smarties study?

The SMARTIES study will be researching developmental trajectories for infants with SMA who are treated with onasemnogene abeparvovec (Zolgensma). This research will use PediaTrac, a web-based parent response tool that has been validated for use in National Institutes of Health backed research. Using this tool, the team will examine the unique developmental trajectories for infants and toddlers with SMA.

Who Can participate?

Caregivers of infants < 12 months of age at time of enrollment, who have confirmed SMA and have been treated with onasemnogene abeparvovec (Zolgensma). Caregivers must be comfortable completing questionnaires in English and have access to the internet.

What does the study involve?

Caregivers who participate in this study will be asked to complete online surveys about their infant’s development, family, and health at several time points. These questionnaire sets depend on your baby’s age over the course of the study. Questionnaires are available for when babies are newborns, 2 months, 4 months, 6 months, 9 months, 12 months,15 months and 18 months, depending on the child’s age at enrollment.