Blog Archives
Sialic acid supplementation may stabilise muscle strength in subjects with GNE myopathy
GNE Myopathy (GNEM) is a progressive adult-onset myopathy likely caused by deficiency of sialic acid (SA) biosynthesis. This Phase 2, randomised, double-blind, placebo-controlled study evaluated the efficacy and safety of SA (delivered by aceneuramic acid extended-release (Ace-ER)) versus placebo as a treatment for GNEM. Dose-dependent increases in serum SA levels were observed. Supplementation with … [Read more]
Dominant MYOT mutations causes a more severe and proximal muscular dystrophy
Most myotilinopathy patients present with a dominant late onset distal phenotype and myofibrillar pathology, although the first MYOT mutation in a family reported to have LGMD phenotype. This paper reports a French family affected with a late onset proximal and distal muscle weakness and myofibrillar myopathy on muscle pathology, in which the siblings known to … [Read more]
Spinraza drug authorization: Patients’ organization AFM-Telethon welcomes a major step but calls upon full transparency by Biogen regarding the price claimed
On December 23rd 2016, the US Food and Drug Administration (FDA) issued Biogen with an authorization for Spinraza (Nusinersen). The drug is approved for use for all American patients affected with spinal muscular atrophy (SMA), regardless of disease type. AFM-Telethon welcomes this landmark development which opens the way for treating an incurable, devastating and extremely … [Read more]
European cross-sectional survey of current care practices for DMD
The publication of standardised care guidelines in 2010 was an important step towards improving DMD patient care. These guidelines were reproduced as “family guides”, and distributed to patients and health care providers via patient organisations, the TREAT-NMD network, and patient registries. The authors aimed to survey the extent to which these guidelines have been … [Read more]
Decreased cerebral perfusion in DMD patients
Duchenne muscular dystrophy is caused by dystrophin gene mutations which lead to the absence of the protein dystrophin. A significant proportion of patients suffer from learning and behavioural disabilities, in addition to muscle weakness. The authors of the present study have previously shown that these patients have a smaller total brain and grey matter … [Read more]
Further characterisation of prenatal and postnatal features of type 0 SMA
Spinal muscular atrophy (SMA) is caused by homozygous inactivation of the SMN1 gene. The SMN2 copy number modulates the severity of SMA. The 0SMN1/1SMN2 genotype, the most severe genotype compatible with life, is expected to be associated with the most severe form of the disease, called type 0 SMA, defined by prenatal onset. This … [Read more]
Efficacy and safety of nusinersen for the treatment of infantile-onset spinal muscular atrophy
Nusinersen is a 2′-O-methoxyethyl phosphorothioate-modified antisense drug being developed to treat spinal muscular atrophy. Nusinersen is specifically designed to alter splicing of SMN2 pre-mRNA and thus increase the amount of functional survival motor neuron (SMN) protein that is deficient in patients with spinal muscular atrophy. This open-label, phase 2, escalating dose clinical study assessed … [Read more]
A novel STIM1 mutation causes TAM with features of Stormorken syndrome
STIM1 is a reticular Ca2+ sensor composed of a luminal and a cytosolic domain. Missense mutations in the luminal domain have been associated with tubular aggregate myopathy (TAM), while cytosolic mutations can cause Stormorken syndrome, a multisystemic disease associating TAM with asplenia, thrombocytopenia, miosis, ichthyosis, short stature and dyslexia. Here, the authors present the case … [Read more]
Pediatric necrotizing myopathy associated with anti- HMGCR antibodies
Antibodies against 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) have recently been associated with immune-mediated necrotizing myopathy, especially in patients with statin exposure. As the data are very limited concerning phenotypes and treatment in paediatric patients, this study aimed to identify the paediatric patients positive for anti-HMGCR antibodies and clarify their features and therapeutic strategies. Of 62 screend … [Read more]
Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene
Mutations in HSPB1 are one of the commonest causes of distal Hereditary Motor Neuropathy (dHMN). Transgenic mouse models of the disease have identified HDAC6 inhibitors as promising treatments for the condition paving the way for human trials. A detailed phenotype and natural history study of HSPB1 neuropathy is therefore required in order to inform … [Read more]
