SMA Foundation Announces a Pilot Study of Biomarkers for SMA

NEW YORK, NY – October 24, 2008 – The Spinal Muscular Atrophy (SMA) Foundation, a nonprofit organization dedicated to accelerating the development of a treatment for SMA, is pleased to announce the launch of a pilot study of Biomarkers for Spinal Muscular Atrophy (BforSMA). The goal of this study is to identify a potential biomarker or panel of biomarkers that can be used as objective measures of SMA disease severity. The identification of such biomarkers may help to assess drug efficacy and shorten the duration of clinical trials.

To ensure wide outreach and quick completion of the study, 18 clinical investigators have been recruited to participate in BforSMA. The first patient is expected to enroll in October. The study aims to enroll 100 children with SMA, making this one of the largest research efforts in SMA history. The Foundation has also recruited the New England Research Institutes (NERI), BG Medicine and Expression Analysis as research partners in this project.

“The SMA Foundation is taking a bold initiative to identify markers of disease severity in spinal muscular atrophy,” noted Richard Finkel, MD, a principal investigator for the trial at the Children’s Hospital of Philadelphia. “The team of SMA clinicians is eager to partner with experienced industry pioneers, including BG Medicine and NERI, towards realizing this goal. Having such biomarkers will greatly enhance the development of new and novel therapies for this disabling disorder.”

Cynthia Joyce, Executive Director for the SMA Foundation, added, “This pilot project has the potential to be a landmark study for therapeutics development – rapid completion will help make future clinical trials more efficient and more informative.” For more information about the study and enrolling sites, please visit

What are Biomarkers?

A biomarker is a biological substance that can be measured in a laboratory test and used as an indicator of a biologic state. It can be used to be measure normal biological processes, pathological processes relating to an illness, or pharmacologic responses to a treatment or therapeutic. Examples of biomarkers commonly used in medicine today include cardiac troponin T for heart attacks and PSA levels in prostate cancer. It is hoped that biomarkers of SMA disease severity will help drug developers evaluate response to treatment in a quantitative, unbiased manner.

About Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is a genetic, motor neuron disease characterized by the wasting of skeletal muscles. Caused by progressive degeneration of nerve cells in the spinal cord, the disease leads to increasing muscular weakness and atrophy. It is estimated that approximately 1 in 6,000 to 1 in 10,000 infants are born annually worldwide with SMA. SMA is often compared to polio because the same spinal cord cells are attacked in both diseases. Over time, patients afflicted by this disease continue to lose muscle control and strength, leading to progressive inability to walk, stand, sit up and breathe. SMA is the leading genetic cause of death among infants and toddlers.

About the Spinal Muscular Atrophy Foundation

Founded in 2003, the Spinal Muscular Atrophy Foundation is a nonprofit organization dedicated to accelerating progress towards a treatment and cure for spinal muscular atrophy through targeted funding of clinical research and novel drug development efforts. Since its inception, the Foundation has awarded over $50 million in sponsored research agreements. In addition, the Foundation is committed to raising awareness and generating support for increased research efforts in SMA among the leaders of industry and government. For more information on the Spinal Muscular Atrophy Foundation, visit or call (646) 253-7100.

Contact Information

Cynthia Joyce
[email protected]