SMA Type 1 Study of Disease’s Natural Course Supports Use of Newborn Screening

A study of the natural course of spinal muscular atrophy (SMA) type 1 supports the idea that treatment should be attempted as early as possible — further supporting arguments on the need for newborn screening in this disease.

While considerable research indicates that early treatment is most beneficial, researchers have struggled to objectively assess if a treatment is working in infants, since reliable data on SMA’s natural course is lacking.

The new study, “Natural History of Infantile-Onset Spinal Muscular Atrophy,” addressed these difficulties by providing measures of clinically meaningful change.

Published in the journal Annals of Neurology, it was the second article from a project that is expected to lead to several additional publications. The study enrolled infants, younger than six months old, at centers within the National Institute of Neurological Disorders and Stroke’s National Network for Excellence in Neuroscience Clinical Trials (NeuroNEXT).

Researchers examined 26 SMA infants and 27 healthy infants as controls. Cure SMA supported the study by providing funding for patient travel expenses, and worked with the research team to recruit SMA patients.

“We are thrilled to have the support of Cure SMA, who are a critical partner in our efforts to inform the SMA community about this study and have provided essential funding support that will have a positive impact on the quality of data that will be generated by this study,” Stephen Kolb, a neurologist at Ohio State University Wexner Medical Center and the study’s lead author, said in a press release.

By using methods such as infant motor function scales, measures of electrophysiological properties, and molecular markers, researchers concluded that while SMA type 1 infants deteriorated rapidly, their healthy peers developed at an equally rapid pace.

At 8 months of age, half of the SMA-affected infants were dead or in need of ventilation for more than 16 hours per day.

Researchers hope that the study will reduce the need for future treatment trials to include placebo groups, as newer data can be compared to the gathered results.

In the first report from the project, issued in 2016, researchers identified markers of disease and its progression that could be used to assess infants with SMA.

The project provides real-world data of how quickly SMA type 1 ravages the body of infants, researchers said — adding that it supports efforts to bring SMA newborn screening into the clinic.