MDA awards Repligen $1.4M for research of new compound with therapeutic potential for SMA

The Muscular Dystrophy Association today announced it has awarded $1.4 million in new research funding to the biopharmaceutical firm Repligen of Waltham, Mass., to complete the preclinical work needed to begin human clinical trials of a promising therapeutic compound for spinal muscular atrophy (SMA).

"Through its translational research program MDA makes strategic investments that encourage biopharmaceutical companies to give priority to drug development efforts focused on therapeutic approaches for neuromuscular diseases," said Valerie Cwik, M.D., MDA Executive Vice President - Research and Medical Director. "Here, a new compound with therapeutic potential for SMA has been identified, and the MDA grant will cover costs associated with pre-clinical testing, as well as early phase human clinical trials in healthy volunteers and patients which are planned for 2011."

The new MDA research funds will enable Repligen to move its lead compound for SMA, RG3039, into human clinical trials after completing final preclinical steps required by the U.S. Food and Drug Administration. RG3039 is an inhibitor of an RNA processing enzyme that, in two mouse models for SMA pioneered by MDA-funded investigators, significantly increases production of SMN, a protein that's deficient in patients with SMA. The initial discovery and development of RG3039 was conducted by Families of SMA and was licensed by Repligen in 2009.

"RG3039 could change the course of the disease," said R. Rodney Howell, M.D., Chairman of the MDA Board of Directors. "In pre-clinical models for SMA, RG3039 has increased production of the vital SMN protein, improving both mobility and lifespan."

"Since studies show a correlation between the amount of SMN protein present and the severity of disease," Howell added, "some 20,000 Americans living with SMA have every reason to be keenly interested in the planned human clinical trial of RG3039."

SMA is a genetic neuromuscular disease that involves the loss of nerve cells (motor neurons) in the spinal cord. Symptoms typically occur in infancy, but the disease can often show up in early or late childhood and rarely in adulthood. It causes progressive muscle weakness in the body, including muscles needed for breathing. There are several different types of SMA. The most severe form, SMA type 1 or "infantile SMA," is present in newborns and is often fatal before the age of two.

SMA is caused by a defect in the SMN1 (for "survival of motor neurons) gene, which causes abnormally low levels of the protein SMN. A second gene, called SMN2, is almost identical to SMN1; but the genetic instructions in the SMN2 gene are altered, resulting in production of only small amounts of the full length protein. However, scientists have discovered that patients with more copies of the SMN2 gene generally have less severe forms of SMA, because they presumably make more full-length SMN.

Repligen plans to conduct two phase I trials to test the drug's safety. The first trial will be conducted in healthy volunteers after Repligen receives FDA approval. The second study will involve people with SMA.

In tandem with the phase I human trials, researchers also plan to conduct studies in mouse models to better predict optimal doses for patients, as well as identify a biomarker, or benchmark, that can be used to better quantify the effects of RG3039 in patients. For more information visit:

Previously, MDA has granted $1.73 million to Repligen to develop drug treatment therapies for Friedreich's Ataxia, a genetic neurodegenerative disease that affects coordination and balance, skeletal muscles and the heart.

Source: Muscular Dystrophy Association


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