Shares of Scholar Rock Holding Corp. (NASDAQ:SRRK) soared $26.86, or 362%, to close Oct. 7 at $34.28, after the Cambridge, Mass.-based firm disclosed positive top-line data from the phase III Sapphire study testing apitegromab in patients with spinal muscular atrophy (SMA). Apitegromab, which Wainwright analyst Andres Maldonado said will “transform SMA” therapy, met the primary endpoint with statistically significant and clinically meaningful improvement in motor function as measured by the Hammersmith Functional Motor Scale Expanded.

Khalifa University and The University of Queensland presented preclinical data for a novel acid-sensing ion channel 1 (ASIC1) inhibitor, Hi1a, evaluated in models of multiple sclerosis (MS).

The adenosine A1 receptor (A1R) modulates ionic conductance in neuronal membrane and contributes to the anticonvulsant and neuroprotective role of the endogenous neuromodulator adenosine. Because A1Rs are present all throughout the body, the development of A1R modulation as antiseizure strategy may face difficulties such as side effects in the heart or other organs.

The increasing knowledge on how protein tau is organized in live cells has shown that the protein forms nanometer-sized hotspots which are different from tau microtubules. These hotspots, essential for aggregation, include (306)VQIVYK(311) and (275)VQIINK(280) aggregation-promoting hotspots, the first found in all tau isoforms and the latter included mainly in 4R isoforms.

Researchers in the U.K. have succeeded in reverse engineering the defective cryptic splicing that drives amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) to enable precisely targeted delivery of transgenes and therapeutic protein expression in diseased neurons. The technique is compatible with conventional adeno-associated viral vectors that are approved for gene therapy, and can readily be adapted for different transgenes. ALS, FTD and other neurogenerative diseases are underpinned by loss of function of the RNA-binding protein TDP-43 (transactive response DNA-binding protein 43), that normally functions as a key regulator of splicing, protecting the transcriptome from toxic cryptic exons.

A collaboration led by the Flywire Consortium and comprising hundreds of scientists has completed a whole map of the adult fruit fly brain after several decades of collaborative work.