Cure SMA-Funded Researcher, Stephen Kolb, Publishes Paper

By Cure SMA | Published On November 27, 2017

Cure SMA-Funded Researcher, Stephen Kolb, Publishes Paper

Cure SMA-funded researcher Stephen Kolb has published a paper in the journal Annals of Neurology, on the results of a study comparing infants affected by SMA with healthy infants of the same age. This paper reported on the longitudinal results—that is, the change over time—between the two groups of infants.

This paper follows an earlier paper in the journal Annals of Clinical and Translational Neurology, which reported on the baseline results.

Research suggests that treatment for SMA may be more successful if it is delivered as early as possible. However, in very young babies, it’s difficult to measure results during the clinical trial to see if the treatment is working. The goal of this study was to collect detailed information on how exactly the disease progresses in babies.

In addition to funding patient travel for this study, Cure SMA also worked with Dr. Kolb and the community to recruit infants affected by SMA for this trial.

"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," said Dr. Kolb.

New Ways to Measure Future Trials

This prospective, multi-center natural history study targeted enrollment of SMA infants and healthy control infants less than six months of age. Recruitment occurred at 14 centers within the NINDS National Network for Excellence in Neuroscience Clinical Trials (NeuroNEXT) Network. Infant motor function scales and putative electrophysiological, protein and molecular biomarkers were assessed at baseline and subsequent visits.

This paper is the second installment of several expected over the next two years. This paper reports results from tracking the disease course of these infants ever few months, thus gathering more data on the natural history of SMA. The data collected here could potentially serve as a comparator group for future clinical trial, reducing or eliminating the number of participants who are placed in a placebo group.

Enhancing Our Understanding of SMA Natural History

This study is critical because of its definitive and well-controlled data on the natural history of SMA type I. It showed that that motor function decreased rapidly in SMA infants, whereas it rapidly increased in the unaffected infants. In addition, by eight months of age, babies with two copies of SMN2 had typically reached an endpoint of either death or usage of ventilation (BiPap or a tracheotomy) for more than 16 hours a day.

This further reinforces the fact that early intervention is especially critical in SMA type I. It will also support continued efforts to add SMA to newborn screening panels, as that represents the most effective way to ensure early treatment for those affected by SMA.

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