Half a year has gone by since disgraced pharma executive Martin Shkreli was sentenced to seven years in federal prison for securities and wire fraud while heading San Diego-based Retrophin. As founder and CEO of another company (then known as Turing Pharmaceuticals), in late 2015 Shkreli bought the rights to…
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The investigational treatment risdiplam (RG7916) improved motor function in patients with type 1, 2 or 3 spinal muscular atrophy (SMA), according to preliminary results from the first part of two Phase 2/3 clinical studies. Risdiplam, being developed by Roche and Genentech in collaboration with PTC Therapeutics and the …
Patients with spinal muscular atrophy (SMA) are more susceptible to becoming tired during physical activity, which, in addition to muscle weakness, may contribute significantly to their decreased motor function, a study finds. The study, “A continuous repetitive task to detect fatigability in spinal muscular atrophy,”…
Researchers in Japan have developed a non-invasive test to measure levels of the SMN protein using cells circulating in the blood of spinal muscular atrophy (SMA) patients. The test is a potentially useful tool in monitoring treatment response. The results of the study, “A new biomarker candidate for spinal muscular…
Spinal muscular atrophy (SMA) type 1 has different disease courses between Plain (Amish and conservative Mennonite) communities, a recent natural history study shows. The study, “Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history,” was published in the journal Plos One.
When Megan Cardenas and her husband brought their 10-day-old son, Derek, to be screened for spinal muscular atrophy (SMA), the doctor told them their baby was simply lazy. The infant might not be meeting early milestones, but he could roll over when placed on his side — something babies…
A $123,933 grant will boost the efforts of University of Oxford scientist Carlo Rinaldi, MD, PhD, to advance understanding of spinal and bulbar muscular dystrophy (SBMA) in the hopes that it will eventually lead to a treatment. The three-year grant is being co-funded by the…
Additional research is still needed on how and when to use Spinraza (nusinersen) in several different types of spinal muscular atrophy (SMA), according to researchers in a recent review study. The study, “Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps,” was published…
More than 700 medical experts, pharmaceutical executives, patient advocates, and others are expected to converge on Washington, D.C., next month for the 2018 NORD Rare Diseases & Orphan Products Breakthrough Summit. The Oct. 15-16 event, sponsored by the National Organization for Rare Diseases (NORD), takes place at the…
Researchers have validated three potential spinal muscular atrophy blood biomarkers as able to measure disease severity in mouse models of severe and intermediate forms of SMA. But the three do not appear to allow for monitoring of treatment response. The study, “Evaluation of potential effects of Plastin 3…
