Metabolic Urine Analysis May Help Diagnose, Predict SMA

A new study suggests clinicians might be able to use metabolic “fingerprints” to better understand the likely severity of individual cases.

A new report suggests metabolic profiling may be able to give clinicians a much clearer picture of individual cases of 5q spinal muscular atrophy (SMA), creating the potential for earlier, more targeted therapeutic intervention.

The study was published in the Orphanet Journal of Rare Diseases.

SMA is caused by loss of function or deletion of the SMN1 gene with retained function of at least one copy of the SMN2 gene, explained corresponding author Andreas Ziegler, M.D., of Heidelberg University Hospital, in Germany, and colleagues.

New advances in the treatment of SMA have made it possible to significantly improve the trajectories of cases, particularly when children are diagnosed early. But newest therapies also come at a high cost and can be burdensome to administer.

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