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…
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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…
Genomic Vision and Quest Diagnostics have agreed to extend their collaboration focusing on the potential development of new biomarkers to improve genetic diagnosis of spinal muscular atrophy. The partners will accelerate the pace of their efforts to identify new biomarkers with the possibility of detecting SMA “2+0” carrier status, referring to carriers who have two survival motor neuron 1 gene copies on one chromosome and none on the other. The identification of this rare form of mutation would lead to improved sensitivity in SMA screening. This announcement follows previous research by the two companies that demonstrated evidence that this pattern could be detected by molecular combing, a user-friendly technique that allows DNA to be analyzed at the single molecule level. Although healthy parents of a child with SMA carry the SMN1 gene defect, they do not have any symptoms of the disease. A carrier with the 2+0 pattern cannot be distinguished from a noncarrier, and test results may not reliably identify this particular carrier status. Genomic Vision has pioneered a molecular combing system that could potentially detect this pattern and reliably identify carrier status. This test stretches and assembles millions of large DNA fragments in a single step. The resulting DNA is organized in discrete strands, allowing for analysis at the single molecule level. Under the new agreement, Quest will be solely responsible for developing, validating, and offering new lab tests.
Many parents of children with neuromuscular disorders like SMA would like to see if yet-to-be-approved therapies could help them. But a lot them hesitate to let their children participate in clinical trials because they lack information on the trials’ requirements and risks, and they worry that…
