Myology research highlights
RSS feedA specific metabolic profile probably useful as a biomarker in SMA
Whether it is to specify the different categories of SMA or to monitor the progress of treated patients, there is still a lack of biomarkers. German researchers have developed and tested a new approach based on the study of the metabolome in urine proton spectrometry. In their study: twenty-nine patients with SMA and naïve to … [Read more]
Muscular dystrophy: the challenges of cell transplantation
Cell transplantation has been considered a possible treatment strategy for muscular dystrophy for decades, yet there have been more failures than successes, if not encouraging results so far. In this review of the literature, the authors briefly retrace the history of cell transplantation and describe the characteristics specific to skeletal muscle, and dystrophic skeletal muscle … [Read more]
SMA type 1: the results of the STR1VE-EU trial confirm the efficacy of Zolgensma
The STR1VE-EU trial evaluated the safety and efficacy of a single intravenous infusion of Zolgensma (onasemnogene abeparvovec) in 33 infants with SMN1-related proximal spinal muscular atrophy (SMA) type 1, presenting one or two copies of the SMN2 gene and aged under 6 months. The results of this trial, published in October 2021, show that: 97% … [Read more]
An axonal form of CMT is clinically similar to SMA
European researchers have identified thirty individuals with a rare form of axonal CMT disease with mutations in the NEFH gene, coding a neurofilament (CMT type 2CC). An analysis of the clinical and laboratory data shows that: the first impairments, essentially motor in nature, appear in the patients’ 30s, but progress quickly to a situation of … [Read more]
A recurrent mutation of the RYR1 gene is responsible for a congenital form of myopathy with benign progression
Although the usual mode of presentation of RYR1-related myopathies is that of congenital myopathy, the range of phenotypes related to pathogenic variants of this gene is constantly widening. A group of French clinicians and biologists have identified a group of 13 patients who are carriers of a recurrent mutation in the RYR1 gene. An analysis … [Read more]
LAMA2-related CMD: full body MRI of 27 patients shows consistent topography of brain and muscle impairments
Based on an analysis of images obtained from full body magnetic resonance imaging (MRI) of 27 patients with LAMA2-related congenital muscular dystrophy (CMD), aged 2 to 62 years, 6 of whom had never acquired the ability to walk, an international collaboration coordinated by the team at the Raymond-Poincaré Hospital (Garches) has identified that: the replacement … [Read more]
Japanese guidelines for the diagnosis and treatment of interstitial lung disease accompanying certain systemic diseases
The occurrence of interstitial lung disease in the progression of a systemic disease (also known by the term “connectivitis”) is a complication that is feared because of its potentially fatal outcome. Among the muscular diseases, this particularly applies to antisynthetase syndrome and to certain cases of dermatomyositis. A group of Japanese experts, consisting of internists, … [Read more]
An indwelling intrathecal catheter used experimentally in the US for nusinersen injections in SMA
The intrathecal administration of nusinersen (Spinraza) can prove problematic in patients with SMN1 gene-related proximal spinal muscular atrophy (SMA) due to spinal deformation that is either pre-existing or acquired during treatment. American clinicians have put in place, experimentally, a catheter linking the spinal canal to an implanted subcutaneous chamber, thus facilitating iterative injections of this … [Read more]
The STRIDE follow-up registry and a retrospective Swedish study provide new data regarding the effects of ataluren in DMD at over 5 years
• Ataluren, a medicine that targets DMD gene stop codon-type abnormalities, approved in Europe in Duchenne muscular dystrophy, is the subject of new results with respect to walking, upper limb mobility and breathing, based on real-life data from the STRIDE registry and a retrospective Swedish study • The results show that ataluren delays the loss … [Read more]
Eteplirsen acts long-term on respiratory function and walking in DMD
• A prospective and retrospective analysis of the effects of eteplirsen has been conducted over a total period of 7 years, via 3 successive clinical trials among 12 participants with DMD; the third trial involved 10 of these participants and was conducted in a real-life setting with routine clinical follow up. • The results showed: … [Read more]
