Researchers have developed a two-dimensional (2D) model that mimics the crosstalk between nerve and muscle cells. They intend to use it to screen large numbers of compounds in the hunt for treatments for spinal muscular atrophy (SMA) and other neuromuscular diseases. “We want to start by seeing if we…

A new U.S. initiative called Rare Disease Cures Accelerator–Data and Analytics Platform — dubbed RDCA–DAP — aims to accelerate treatment innovation across rare diseases by sharing existing patient data and promoting the standardization of new data collection. Launched during a virtual workshop in September, the U.S. Food and Drug…

LMI070 (branaplam), a candidate oral therapy under development by Novartis, is being tested in a Phase 1/2 clinical trial for infants with spinal muscular atrophy (SMA) type 1. A recent study describes how the compound was discovered from a large screen for SMN2…

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.

The 19th International SMA Researcher Meeting has been recently held by Cure SMA at Kansas City, Missouri (June 18-20, 2015). Summaries with the most relevant developments and findings presented at the meeting are currently being made available. SMA (spinal muscular atrophy) is a rare, devastating motor neuron disease…