During the 2015 Cure SMA Researcher Meeting, a number of novel studies focusing on Spinal muscular atrophy (SMA) were presented under the topic “Emerging Trends in Motor Neuron Pathobiology.” SMA is neurodegenerative disease caused by a genetic defect in the Smn1 gene (short for spinal motor neuron-1). This alteration results in the loss of…
Isis Pharmaceuticals, Inc. has announced that it has initiated a Phase 3 clinical trial (CHERISH) that will test the safety and efficacy of their lead drug – ISIS-SMNRx – in non-ambulatory children with spinal muscular atrophy. Spinal Muscular Atrophy (SMA) is a disease caused by mutations in the Smn1 gene that…
Isis Pharmaceuticals, Inc. and AstraZeneca announced a new partnership to develop new, more efficient delivery methods of its antisense oligonucleotides to the desired tissue. Isis is currently utilizing its antisense technology to develop ISIS-SMNRx, an experimental therapy for spinal muscular atrophy being developed in collaboration with Biogen Idec. This new…
PTC Therapeutics, Inc. announced that their collaborative program with Roche and the SMA Foundation (SMAF) for Spinal Muscular Atrophy (SMA) has begun its second phase with adult and children patients, as part of the Phase 1b/2a study. The program is evaluating the safety and tolerability of an under-investigation drug – survival of…
A study entitled “Patient with spinal muscular atrophy with respiratory distress type 1 presenting initially with hypertonia” reports a case study of a two-month-old boy with spinal muscular atrophy with respiratory distress type 1 that displayed hypertonia as an initial symptom and progressing to bone tissue compromise, a new symptom that has…
In the study entitled “Observational study of spinal muscular atrophy type I and implications for clinical trials” published in the Neurology journal, the authors describe the clinical features of spinal muscular atrophy type I, data that can be useful to future design of clinical trials. Spinal…
In a recent study published in the Molecular Therapy journal, the authors report an improved method to deliver the human genetic sequence that can restore the missing SMN protein, responsible for spinal muscular atrophy, directly to the cerebral spinal fluid (CSF) via single injection. The study was entitled “…
A study entitled “Myogenic program dysregulation is contributory to disease pathogenesis in spinal muscular atrophy” showed that lack of SMN leads to delayed postnatal skeletal muscle development in mouse models of spinal muscular atrophy. The study was published in the Human Molecular Genetics journal. Spinal Muscular Atrophy…
A study entitled “A simple and precise diagnostic method for spinal muscular atrophy using a quantitative SNP analysis system” published in Electrophoresis describes a system for diagnosis of spinal muscular atrophy that is both fast and accurate. Spinal Muscular Atrophy (SMA) is caused by mutations…
A study entitled “Label-free proteomics identifies Calreticulin and GRP75/Mortalin as peripherally accessible protein biomarkers for spinal muscular atrophy” suggests Calreticulin and GRP75/Mortalin as new protein biomarkers for spinal muscular atrophy progression. The results were published in October 2013 issue of Genome Medicine. Spinal muscular atrophy (SMA)…
