Cure SMA-Funded Researcher Publishes Paper on Biomarker Study

Cure SMA-funded researcher Stephen Kolb has published a paper in the journal Annals of Clinical and Translational Neurology. This paper reported on the baseline results from an ongoing biomarker and natural history study comparing infants affected by SMA to healthy infants of the same age.

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 is to identify indicators, called biomarkers, that might help us measure how well a treatment is working in very young babies. It is also designed 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, which reports on baseline data, is the first installment of several expected over the next two years. The study will continue to track these infants every two months, 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 the number of participants who are placed in a placebo group.

Enhancing Our Understanding of SMA Natural History

By the time infants were recruited and presented for the baseline visit, SMA infants had reduced motor function compared to controls. The two groups were also different in other measurements such as Ulnar CMAP, EIM, blood SMN mRNA levels and serum protein analytes.

This finding, while not surprising, is important because it is remarkably consistent with prior studies that were conducted in a single center. This consistency, obtained in a multi-center format similar to what would be expected in a large clinical trial context, is an important replication and validation of those earlier studies.

Importantly, while some sites within the NeuroNEXT network had extensive experience in the SMA infant population, many sites did not. Thus, the natural history data generated by this study could be most relatable to the data generated by large, multi-center SMA clinical trials, in which different sites may have different levels of experience with very young infants who have SMA.

Pictured: Stephen Kolb preparing to present to families at the Annual SMA Conference.

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