Myology research highlights

RSS feed

Gene therapy as a potential therapeutic option for DMD: a qualitative preference study of patients and parents

Duchenne muscular dystrophy (DMD) is a rare neuromuscular disorder that causes progressive weakness and early death. Gene therapy is an area of new therapeutic development. This qualitative study explored factors influencing parents’ and adult patients’ preferences about gene therapy. The authors report qualitative data from 17 parents of children with DMD and 6 adult patients. … [Read more]

Priorities when deciding on participation in early-phase gene therapy trials for DMD: a best-worst scaling experiment in caregivers and adult patients

Several gene therapy trials for Duchenne muscular dystrophy have been initiated in 2018. Trial decision making is complicated by non-curative, time-limited benefits; the progressive, fatal course; and high unmet needs. Here, caregivers and patients prioritize factors influencing decision making regarding participation in early-phase gene therapy trials. The authors conducted a best-worst scaling experiment among U.S. … [Read more]

Evaluating benefit-risk decision-making in SMA: a first-ever study to assess risk tolerance in the SMA patient community

Patients’ perceptions of benefit-risk are essential to informing the regulatory process and the context in which potential therapies are evaluated. To bring this critical information to regulators, Cure SMA launched a first-ever Benefit-Risk Survey for spinal muscular atrophy (SMA) to characterize decision-making and benefit-risk trade-offs in SMA associated with a potential therapy. The authors hypothesized … [Read more]

A review of the use of mexiletine in patients with myotonic dystrophy and non-dystrophic myotonia

Myotonia is found in a number of muscle diseases, including myotonic dystrophy and non-dystrophic myotonia. The resulting symptoms of myotonia can interfere with daily activities such as walking or climbing the stairs. Due to the rarity of both these conditions, pharmacological treatment of myotonia is largely anecdotal and is led by specialist clinicians who tend … [Read more]

NFL is a marker of treatment response in children with SMA treated with nusinersen

Recently, the anti-sense oligonucleotide drug nusinersen was approved for spinal muscular atrophy (SMA) and the aim of this study was to find a response marker for this treatment. Twelve children with SMA type 1 and two copies of the SMN2 gene were included in a consecutive single-center study. The children were sampled for CSF at … [Read more]

Investigational RNAi therapeutic targeting C5 is efficacious in pre-clinical models of Myasthenia gravis

Complement-mediated damage to the neuromuscular junction (NMJ) is a key mechanism of pathology in myasthenia gravis (MG), and therapeutics inhibiting complement have shown evidence of efficacy in the treatment of MG. In this study, researchers describe the development of a subcutaneously administered N-acetylgalactosamine (GalNAc)-conjugated small interfering RNA (siRNA) targeting the C5 component of complement that … [Read more]

CRISPR-Cas9 : first in vivo proof-of-concept in DM1

Teams of Ana Buj Bello (Genethon), Denis Furling (Institute of Myology) and Geneviève Gourdon (Imagine Institute) have made the proof-of-concept of a CRISPR-Cas9 approach in a mouse model of Steinert’s myotonic dystrophy, the most common neuromuscular disease in adults. Indeed, thanks to this genome editing approach, the expanded CTG triplet repeat in the DMPK gene, … [Read more]

Alteration of performance in a mouse model of Emery-Dreifuss muscular dystrophy caused by A-type lamins gene mutation

Autosomal Emery-Dreifuss muscular dystrophy (EDMD) is caused by mutations in the lamin A/C gene (LMNA) encoding A-type nuclear lamins, intermediate filament proteins of the nuclear envelope. Classically, the disease manifests as scapulo-humero-peroneal muscle wasting and weakness, early joint contractures and dilated cardiomyopathy with conduction blocks; however, variable skeletal muscle involvement can be present. Previously, researchers … [Read more]

Natural history of LGMD type R9 over 6 years: searching for trial endpoints

Limb girdle muscular dystrophy type R9 (LGMD R9) is an autosomal recessive muscle disease for which there is currently no causative treatment. The development of putative therapies requires sensitive outcome measures for clinical trials in this slowly progressing condition. This study extends functional assessments and MRI muscle fat fraction measurements in an LGMD R9 cohort … [Read more]

Biomarkers in inflammatory myopathies – an expanded definition

Biomarkers as parameters of pathophysiological conditions can be of outmost relevance for inflammatory myopathies. They are particularly warranted to inform about diagnostic, prognostic, and therapeutic questions. As biomarkers become more and more relevant in daily routine, this review focusses on relevant aspects particularly addressing myopathological features. However, the level of evidence to use them in … [Read more]