Blog Archives
Nusinersen in later-onset SMA: long-term results from the phase 1/2 studies
The objective of this study was to report results of intrathecal nusinersen in children with later-onset spinal muscular atrophy (SMA). Analyses included children from a phase 1b/2a study (ISIS-396443-CS2; NCT01703988) who first received nusinersen during that study and were eligible to continue treatment in the extension study (ISIS-396443-CS12; NCT02052791). The phase 1b/2a study was a … [Read more]
Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy
The objective of this study was to define a distinct, dominantly inherited, mild skeletal myopathy associated with prominent and consistent tremor in two unrelated, three-generation families. Clinical evaluations as well as exome and panel sequencing analyses were performed in affected and nonaffected members of two families to identify genetic variants segregating with the phenotype. Histological … [Read more]
Observational study of clinical outcomes for testosterone treatment of pubertal delay in DMD
Adolescents with DMD treated with chronic high dose GC therapy typically have profound pubertal delay. Testosterone, the main circulating androgen in men, promotes virilisation and growth with associated accrual of fat-free muscle mass and bone mineral content. Testosterone therapy is routinely used to mimic the normal stages of pubertal development in patients with hypogonadotrophic hypogonadism, … [Read more]
Diaphragm sniff ultrasound: normal values, relationship with sniff nasal pressure and accuracy for predicting respiratory involvement in patients with NMD
In patients with neuromuscular disorders, assessment of respiratory function relies on forced vital capacity (FVC) measurements. Providing complementary respiratory outcomes may be useful for clinical trials. Diaphragm sniff ultrasound (US) is a noninvasive technique that can assess diaphragm function that may be affected in patients with neuromuscular disorders. A group of french researchers and clinicians, … [Read more]
AAV9 gene replacement therapy for respiratory insufficiency in very-long chain acyl-CoA dehydrogenase deficiency
Very-long chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an autosomal recessive disorder of fatty acid oxidation. Fatty acids are a major source of energy during catabolic stress, so the absence of VLCAD can result in a metabolic crises and respiratory insufficiency. The etiology of this respiratory insufficiency is unclear. Thus, the aims of the authors … [Read more]
Nocebo effect in myasthenia gravis: systematic review and meta-analysis of placebo-controlled clinical trials
Nocebo refers to the adverse events (AEs) experienced when taking a placebo drug and is believed to be a centrally mediated process. The authors sought to examine the AEs following placebo administration in Randomised Controlled Trials (RCTs) for Myasthenia Gravis (MG) patients. A systematic literature search was performed on Medline and Web of Science for … [Read more]
Unraveling upper extremity performance in DMD: a biophysical model
This study aimed to identify critical physiological outcome variables underlying reduced upper extremity task performance in Duchenne muscular dystrophy (DMD). These critical variables were used to propose an explanatory biophysical model of the upper extremity working mechanisms in DMD. Twenty-three DMD patients (8-21 years) participated in this study. Correlations with Brooke scale and Performance of … [Read more]
European regulators’ views on a wearable-derived performance measurement of ambulation for DMD regulatory trials
Development of novel therapies for Duchenne muscular dystrophy (DMD) are driving the need for more efficient ways of detecting changes in disease-progression in DMD. However, medicines’ approval must be based on outcome measures that are acceptable from a regulatory perspective. In this article, European regulators provide an update on the recent regulatory consideration of a … [Read more]
Long-term natural history data in DMD ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53
The aim of this international collaborative effort was to report 36-month longitudinal changes using the 6MWT in ambulant patients affected by Duchenne muscular dystrophy amenable to skip exons 44, 45, 51 or 53. Of the 92 patients included in the study, 24 had deletions amenable to skip exon 44, 27 exon 45, 18 exon 51, … [Read more]
Development and validation of a new risk prediction score for life-threatening ventricular tachyarrhythmias in Laminopathies
An accurate estimation of the risk of life-threatening (LT) ventricular tachyarrhythmia (VTA) in patients with LMNA mutations is crucial to select candidates for implantable cardioverter-defibrillator implantation. The authors included 839 adult patients with LMNA mutations, including 660 from a French nationwide registry in the development sample, and 179 from other countries in the validation sample. … [Read more]
