Candidate Drug Provides Benefit in Spinal Muscular Atrophy Animal Models
Post date: Jun 5, 2013 11:22:02 PM
June 4, 2013 — In a new publication that appears in Human Molecular Genetics, the laboratory of Christine DiDonato, PhD reports on their pharmacological characterization of the drug RG3039, demonstrating that it can extend survival and improve function in two spinal muscular atrophy (SMA) mouse models. They have determined the minimum effective dose and drug action, thus contributing to dose selection and exposure estimates for the first studies with RG3039 in humans. As in cellular assays, the animal studies have shown that drug treatment leads to improvement in nuclear gem/Cajal body numbers in motor neurons.
Gem loss is a cellular hallmark of fibroblasts derived from SMA patients; gem numbers inversely correlate with SMA disease severity. In addition, the laboratory has shown improved functional outcomes, including treadmill walking and gait dynamics, in animals receiving the drug. The laboratory has been testing RG3039 in SMA mouse models with disease phenotypes ranging from mild to severe.
The collective results suggest that RG3039 positively modifies motor unit pathologies and dysfunction, and that it may have therapeutic benefit for SMA.