Spinal Muscular Atrophy Foundation and BG Medicine collaborate

The Spinal Muscular Atrophy Foundation and BG Medicine have announced a collaboration to discover plasma biomarkers of drug efficacy for spinal muscular atrophy (SMA), the leading genetic cause of mortality in infants and toddlers.

This project seeks to discover a clinically-useful molecular biomarker, which can then be used to monitor the efficacy of potential drugs in clinical trials.

“We are pleased to be launching this important step in drug development efforts for SMA,” said Karen Chen, Director, Pre-Clinical Research for the Foundation. “The identification of relevant biomarkers is key to the successful development of new therapeutics for this devastating disease. The unbiased discovery approach taken in this project will add substantially to our understanding of disease and drug effects.”

Spinal muscular atrophy is a genetic motor neuron disease characterized by the wasting of skeletal muscles. As a result of the progressive degeneration of nerve cells in the spinal cord, the disease leads to increasing muscular weakness and atrophy and premature death from respiratory problems. The SMA Foundation estimates that over 50,000 people currently suffer from SMA in the United States, Europe, and Japan, and that the market potential for a drug to treat SMA ranges from $500 million to $1 billion dollars annually.

As candidate drugs become available for SMA, there will be an increasing need for efficient ways to assess their effectiveness in clinical trials. Molecular biomarkers, which can be measured in easily accessible body fluids such as blood plasma, offer a way to conduct smaller and faster -- and thus lower-cost -- clinical studies. In addition, SMA-related biomarkers could facilitate the development of novel therapeutic strategies for SMA. Scientists believe that finding effective treatments for SMA will also contribute to finding treatments for other devastating neurological diseases such as amyotrophic lateral sclerosis (ALS or “Lou Gehrig's Disease”) and Parkinson's disease.

“In this initial study, we hope to identify biomarkers that can be used to evaluate drug efficacy in this orphan disease and thus help to accelerate drug discovery efforts for SMA and other neurodegenerative diseases,” said Dr. Pieter Muntendam, CEO of BG Medicine.

The SMA Foundation intends to make information obtained from the study available for SMA researchers in the hope that such sharing will help to expedite additional research and scientific advancement.