Predicting Treatment Response in Patients with Spinal Muscular Atrophy (SMA)

Application

Prognostic model predicts treatment response to nusinersen (Spinraza®) in patients with spinal muscular atrophy.

Key Benefits

• A prediction model using baseline CHOP-INTEND, IL-8, fractalkine, and MCP-1 accurately predicts CHOP-INTEND outcomes in children treated with nusinersen
• The model can also be incorporated into future therapeutic trials to enable subgroup matching and monitor progression/response in SMA as well as other motor neuron diseases trials including ALS.
• This physiology-biomarker panel analysis can be incorporated into on-going clinical treatment protocols to provide better measurements on expectation of the SMA treatment and adjunct therapy.

Market Summary

Spinal muscular atrophy (SMA) is a genetic disorder of motor neurons (survival motor neuron 1 gene; SMN) that causes progressive and functional decline in early childhood, with an incidence of approximately 14 of every 100,000 live-born infants. Nusinersen is a survival motor neuron-2 (SMN2) directed antisense oligonucleotide (ASO) that induces SMN protein expression. It was approved by the US FDA in December 2016 for the treatment of children and adults with spinal muscular atrophy. While nusinersen provides a promising treatment of SMA, the clinicians have no clear guidance or method for assessing the patients’ response to the therapy. This becomes especially challenging in treating newborns and toddlers as they have difficulties in following verbal instructions given to measure muscle health and motor skills.

Technology Summary

The inventors have discovered three biomarkers that complement the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) in predicting response to nusinersen therapy.