Researchers have identified outcome measures and biomarkers of disease progression that may allow them to differentiate between types of spinal muscular atrophy (SMA) and could be beneficial in evaluating current and future therapeutic approaches. Their findings were published in the study, “Prospective and longitudinal natural history…
Spotlight Innovation announced that the nonprofit Cure SMA has awarded $300,000 to Prof. Kevin Hodgetts, of Brigham and Women’s Hospital in Boston and a Spotlight research collaborator, for the preclinical development of the potential therapy LDN-5178 for spinal muscular atrophy. Hodgetts' project is titled "Pre-Clinical Development of LDN-5178 for the Treatment of SMA." Spotlight Innovation is a pharmaceutical company that licensed the worldwide development and commercialization rights for LDN-5178 from the Indiana University Innovation and Commercialization Office. Individuals with two faulty copies of the survival motor neuron 1 gene will develop SMA. The SMN protein that is normally encoded by the SMN1 gene is involved in the function of nerve cells that carry signals from the brain to move certain muscles. Although our bodies have another gene that produces SMN, the SMN2 gene — often called the SMA backup gene — it is not enough to make up for the loss of normal SMN1 gene function in individuals with SMA. The grant awarded to Hodgetts will be applied to the study of small molecules that can increase the amount of accumulated SMA protein produced by SMN2 to compensate for the loss of SMN1. This is expected to result in increased SMN protein in the brain and normalize the function of nerve cells that are affected in SMA. Hodgetts and his team have previously "identified lead compounds that increased SMN protein in brain and extended survival and motor function in a mouse model of SMA," Hodgetts said in an interview with Cure SMA. He said the SMA grant will help the teams to "continue the development of ... lead series of compounds, performing preclinical drug properties and toxicity studies, to ensure that they are as safe and effective as possible prior to entering clinical trials." The research funded by the grant will be carried out by Hodgetts and his team at the Laboratory for Drug Discovery in Neurodegeneration at Brigham and Women’s Hospital, an affiliate of Harvard Medical School, and Prof. Elliot Androphy and his team at Indiana University.
Researchers at The Ottawa Hospital in Canada have received $150,000 from Cure SMA to develop new ways of monitoring spinal muscular atrophy (SMA) using a noninvasive blood test. The team, led by Robin Parks, PhD, intends to use tiny bits of cells called exosomes to develop ways of tracking SMA progression and how patients respond to treatment. Parks is a senior scientist in the regenerative medicine program at Ottawa Hospital Research Institute and the director of PhD research in the department of medicine at The Ottawa Hospital, as well as a professor at the University of Ottawa. SMA occurs in about 1 in 10,000 live births and is considered the most common cause of death by a genetic disease in newborns. It's caused by a deficiency of a protein known as the SMN protein. Several experimental therapies are currently under investigation for the treatment of SMA. And Spinraza (nusinersen), a medication that acts by increasing the body's ability to produce SMN proteins, has already been approved by the United States Food and Drug Administration, Health Canada, and the European Union for the disease. Research suggests that the earlier a treatment is delivered, the more effective it will be. However, there is not yet a test that can measure how a patient is responding to these therapies, a particularly difficult task in young babies, which Parks and his team are hoping to address. Exosomes are small vesicles (about 30-100 nanometers in diameter) released by cells, which can serve several purposes, including cell-to-cell communication. Since exosomes can spread and distribute various molecules among cells, they have been implicated in the development of diseases, including SMA. A previous study by Parks' team, published in Scientific Reports, revealed that the levels of SMN proteins in exosomes found in the blood were lower in both an SMA mouse model and an SMA type 3 patient, compared with healthy controls. Results of this study indicate that SMN levels in exosomes could be used as a biomarker for SMA progression. The new research, which builds on this previous work, will be conducted in collaboration with Children's Hospital of Eastern Ontario (CHEO) and the University of Missouri.
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