Immunoassay Developed For Neuromuscular Disease Protein

The enzyme-linked immunosorbent (ELISA) assay kit provides a reliable and widely accessible means to measure SMN protein levels, and it greatly simplifies and accelerates efficacy assessment of potential drugs in clinical trials that are designed to increase SMN protein levels.

The assay has been validated for use with human and mouse-cell lysates and tissue homogenates, such as peripheral blood mononuclear cell lysates, and will be marketed through Enzo Biochem, Inc. (New York, NY, USA) worldwide sales and marketing group. The kit is the result of a collaborative agreement between Enzo Biochem and the Spinal Muscular Atrophy Foundation (New York, NY, USA) for the development of reagents and assays for SMN protein. The availability of an effective SMN ELISA could further enable and expedite drug discovery, development, and therapy for Spinal Muscular Atrophy (SMA), the leading genetic cause of mortality in infants and toddlers.

Spinal Muscular Atrophy is a genetic, neuromuscular disease caused by progressive degeneration of nerve cells in the spinal cord that leads to muscular weakness and atrophy and increased risk for early death due to respiratory failure. It is estimated that SMA affects approximately 1 in 6,000 to 1 in 10,000 live births worldwide. The disease is linked to a mutation in or deletion of the SMN1 gene, resulting in reduced levels of SMN protein. An active area of therapeutics development has been elevation of SMN protein levels.

Wayne Patton, PhD, Chief Scientific Officer at Enzo Life Sciences, said, "During the assay development, the SMA Foundation facilitated the supply of assay kits to affiliated investigators in the US and abroad. This allowed us to validate the assay in-house while simultaneously receiving valuable feedback about assay specifications, performance, and protocols from scientists who will ultimately be using the kits in their studies."

Related Links:
Enzo Biochem, Inc.
Spinal Muscular Atrophy Foundation