Early intervention is crucial for the successful management of spinal muscular atrophy (SMA), according to the authors of a review study that discusses the progress made in newborn screening and treatment strategies for this disease. The review study, “Progress in treatment and newborn screening for Duchenne…
A new molecular compound, called LDN-2014, increases and stabilizes the levels of the survival motor neuron (SMN) protein, improving clinical outcomes in mouse models of mild and severe forms of spinal muscular atrophy (SMA), a study reports. The study, “Intraperitoneal delivery of a novel drug‐like compound improves disease severity in severe…
Researchers have developed a platform called SMArtCARE that allows prospective monitoring of all spinal muscular atrophy patients regardless of their current treatment. The technology has the potential to shed new light on the disease’s natural history and medication’s influence. A description of the project was published in…
MRC Holland has launched a newborn screening test, called SALSA MC002 SMA Newborn Screen, that uses a blood sample to detect a specific SMN1 gene alteration that underlies spinal muscular atrophy (SMA). The first in the company’s SALSA Melt Assay product line, this assay can reliably, quickly and…
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…
Lukasz Szczepara showed up to a recent spinal muscular atrophy (SMA) conference in Poland wearing a camouflage T-shirt emblazoned with the words “Deadly Serious.” It was no coincidence. Szczepara and his Venezuelan wife, Yndhira Ramírez, have made it their life’s mission to ensure one thing: the health of their younger…
A potential oral treatment for children with type 1 spinal muscular atrophy (SMA) called RG7916 was able to safely raise levels of the crucial SMN protein that is lacking in these patients, early results of a two-part clinical trial show. Data from the study, “RG7916 significantly increases SMN Protein in…
Olesoxime (TRO19622) is an experimental neuroprotective compound, initially developed by Trophos, for patients with spinal muscular atrophy (SMA). In early 2015, Roche acquired Trophos, along with the therapy. However, as of June 2018, Roche announced it was halting the development of olesoxime for SMA due to disappointing…