News

Olesoxime (TRO19622) stabilizes the movement function of patients with Type 2 or Type 3 spinal muscular atrophy over the long term, an extension of a Phase 2 clinical trial shows. Roche will present the results at the 2018 annual meeting of the American Academy of…

A new genetic approach to restore the expression of the gene that causes spinal muscular atrophy (SMA) in patients’ cells holds promise to effectively and permanently treat the disease, researchers suggest. The study, “Seamless genetic conversion of SMN2 to SMN1 via CRISPR/Cpf1 and single-stranded oligodeoxynucleotides in…

A little-known government entity within the National Institutes of Health (NIH) is helping to lead U.S. efforts to speed up the development of therapies for some 7,000 rare diseases. The Office of Rare Diseases Research (ORDR), headquartered in Bethesda, Maryland, was established in 1993 within the NIH Office of the…

Blood levels of a waste product from muscle metabolism could be used to see how spinal and bulbar muscular atrophy (SBMA) develops before symptoms appear, a Japanese study reports. The research on the waste product, creatinine, appeared in the journal Neurology. The title of the…

AveXis, which is running a series of pivotal clinical trials testing a gene therapy in babies and children with spinal muscular atrophy (SMA), announced plans to be acquired by Novartis for $8.7 billion in cash. The merger, to be completed by mid-year, met with the unanimous approval…

Spinal muscular atrophy (SMA) expert Basil T. Darras, MD, is optimistic about treatment advances and the possibility of a future cure, according to a recent interview in which he shared his thoughts on current SMA therapeutic approaches and care. Darras is a professor of neurology (pediatrics) at Harvard Medical School…

SRK-015 has received orphan drug status designation by the U.S. Food and Drug Administration (FDA) to treat muscle atrophy in patients with spinal muscular atrophy (SMA). SRK-105 is Scholar Rock’s lead product candidate, intended to improve muscle strength…

AVXS-101 has been awarded the SAKIGAKE designation in Japan for the treatment of spinal muscular atrophy (SMA) type 1. This designation will speed the therapy’s development and review process and allow faster license applications in Japan. AVXS-101, the lead product candidate of AveXis,…

According to scientists, new research on ALS may shed light on the mechanisms underlying spinal muscular atrophy. Two RNA binding proteins, TDP-43 and hnRNP A1, are abnormal in certain cases of ALS.  This leads to their accumulation in ALS patients' nerve cells associated with movement. As the name suggests, RNA binding proteins have the capacity to bind with RNA molecules, limiting their ability to become proteins. University of Montreal researchers wanted to understand what happened to movement nerve cells when they removed TDP-43 from the cells' nucleus. Depleting the binding protein TDP-43 led to changes in the processing, or splicing, of messenger RNA in the cell. Because TDP-43 binds with RNA, and can change how it is spliced, depleting it in the cell nucleus led to alterations to another RNA binding protein, hnRNP A1. This protein can get spliced into two variations, both regulated by TDP-43. Changes in hnRNP A1 messenger RNA also resulted in protein aggregation and were toxic to cells. Importantly, hnRNP A1 controls splicing of the SMN gene, the underlying cause of SMA. Researchers don’t know how the hnRNP A1-triggered SMN splice variation affects the function of the SMN gene. But they noted that Spinraza, a therapy recently approved for SMA, targets the hnRNP A1 protein's splicing of the gene. Spinraza was derived from this same type of research.

Gyula Acsadi is an expert in three of the world’s most expensive rare illnesses to treat: spinal muscular atrophy (SMA), Duchenne muscular dystrophy (DMD), and Pompe disease. Acsadi, head of neurology and rehabilitation at Connecticut Children’s Medical Center in Hartford, said he’s convinced that new therapies for these…