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…
New insights into SMA are shedding light on the genetics that underscore the development of the disease. In a recent study entitled “EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia,” the authors found mutations in EXOSC8 that cause progressive and…
A recent study entitled “Analysis of the C9orf72 gene in spinal muscular atrophy patients” published in the Amyotrophic Lateral Sclerosis and Frontotemporal Degenerations journal shows no association between a ALS hexanucleotide repeat in the C9orf72 gene with SMA phenotype. Two of the most common motor neuron diseases…
A recent study entitled “SMN regulates axonal local translation via miR-183/mTOR pathway” and published in Human Molecular Genetics journal identifies a new SMN regulated target – the miR-183/mTOR pathway – that contributes to Spinal Muscular Atrophy. Spinal Muscular Atrophy (SMA) is caused by mutations in…
