SMA Foundation Announces Completion of Biomarker Study Enrollment

NEW YORK, NY – March 27, 2009 – The Spinal Muscular Atrophy (SMA) Foundation, a nonprofit organization dedicated to accelerating the development of a treatment for SMA, is pleased to announce the completion of enrollment for the pilot study of Biomarkers for Spinal Muscular Atrophy (BforSMA).

The first subject was enrolled in the BforSMA study in late November, 2008. Total enrollment included 108 patients with SMA Type I, II and III and 22 controls; 18 clinical sites across North America participated in the study. The dedication of the clinical investigators, the coordinating center (NERI), and support of the SMA community made this clinical trial possible in a remarkably short timeframe.

“This is truly a great achievement. It proves once again that the SMA community of families, researchers and funders are ready to push on to greater projects,” noted Thomas Crawford, MD, a principal investigator for the trial at The Johns Hopkins Hospital. “Our common goal is to use this study to leverage more information about SMA, and to improve our ability to conduct successful treatment trials in the future.”

The goal of the BforSMA study is to identify a potential biomarker or panel of biomarkers that can be used as measures of SMA disease severity. The discovery of such biomarkers may help to evaluate drug efficacy and shorten the duration of clinical trials. Subject specimens collected during the clinical trial will be analyzed by BG Medicine and Expression Analysis. The SMA Foundation expects to have results to share with the SMA community by the end of 2009.

“The success of this recruitment effort shows that a rapid enrollment plan for multicenter trials in SMA is feasible and realistic,” said Cynthia Joyce, Executive Director of the SMA Foundation. “We want to give special thanks to the study participants and their families for helping us achieve this goal.”

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. 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
Suzanne Forrest
[email protected]