Putting SMA on the map

Rules-Based Medicine’s MAP platform helps Spinal Muscular Atrophy Foundation reach biomarkers milestone

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NEW YORK—Navigating with a special "map," the Spinal Muscular Atrophy (SMA) Foundation has reached the first milestone in a program aimed at developing plasma protein biomarkers to treat SMA patients. The direction to this goal was provided by the Rules-Based Medicine's (RBM) Multi-Analyte Profiling (MAP) technology platform.

RBM's biomarker testing service provides clinical researchers, physicians and healthcare providers with reproducible, quantitative, multiplexed data for hundreds of proteins to advance drug development and patient care. According to the company, its MAP technology offers preclinical and clinical researchers broad, cost-effective protein analyses in multiple species from a small sample volume. MAP technology also supports RBM's mission to develop diagnostics that aid in the detection of complex diseases and conditions in areas of unmet medical need such as neuropsychiatry, nephrology, immunology and cardiology.

Founded in 2003, the SMA Foundation is a nonprofit organization dedicated to accelerating progress toward a treatment and cure for SMA through targeted funding of clinical research and novel drug development efforts. Since its inception, the foundation has awarded more than $60 million in sponsored research agreements.

RBM's role in this collaborative effort has been to discover and confirm plasma protein biomarker candidates previously identified from the multi-center Biomarkers for SMA (BforSMA) clinical study executed in 2008 and 2009 by the SMA Foundation, says Christopher Martin, RBM spokesman.

"The Foundation and RBM entered into an agreement in the summer of 2010 to develop a panel of plasma protein biomarkers—important tools in drug development as they can provide information on whether a drug is working and a patient is doing better with a simple blood sample," Martin says.

Biomarkers are particularly useful "when the disease state is associated with slow disease progression, and the target tissues that are primarily affected are not directly accessible (in the central nervous system), as in the case of SMA," he says. "In this stage of the collaboration, the SMA Foundation provided BforSMA plasma samples to RBM for processing on the DiscoveryMAP platform—plus an additional set of 70 biomarker assays. Candidate biomarkers were found that significantly differentiated between disease and control groups and correlated with SMA disease severity."

The SMA Foundation and RBM "are continuing to analyze these results and plan to create a specific panel of biomarker assays for use in clinical trials exploring new treatments for SMA, and ultimately become useful for helping to track disease progression in patients," he says. "The next milestone will be the commercial release of this SMA panel."

Karen Chen, chief scientific officer of the SMA Foundation, explained that biomarkers are critical to accelerating therapeutic development for any disease.

"(Biomarkers) are even more important for rare diseases like SMA, where patient populations are small and mostly consist of children," Chen says. "We are excited to work with RBM … and evaluate responses to treatments more efficiently, and minimize the burden of clinical trials for patients and families."

Identifying specific biomarkers is expected to not only help assess drug efficacy, but shorten the duration of clinical trials for SMA therapies, she says.

Dr. Darryl De Vivo, pediatric neurologist and director of the SMA Clinical Research Center at Columbia University Medical Center, describes the disease as "very grave, very rare."

"SMA is the second most common autosomal recessive condition (behind cystic fibrosis) affecting humans. Parents are carriers," De Vivo says. "It is life-altering in all cases and life-threatening in the most severe cases. Children affected with SMA are weak, may have trouble breathing and are at risk for scoliosis."

The SMA Foundation estimates that approximately one in 6,000 to 10,000 babies worldwide are born annually with SMA, a motor neuron disease and the leading genetic cause of death among infants and toddlers. Characterized by selective loss of nerve cells in the spinal cord, the disease leads to increasing muscle weakness and atrophy, leading to the progressive inability to walk, stand, sit up and breathe, depending on the severity of the disease.

"We are delighted to support the efforts of the SMA Foundation to develop better treatments for this terrible disease," said Craig Benson, CEO of RBM. "The confirmation and validation of biomarker patterns on our platform and the availability of testing services through our CLIA-certified lab will accelerate the development of new treatments for SMA."

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