Blog Archives
Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease
The objective of this study was to determine the effects of 10 years of enzyme replacement therapy (ERT) in adult patients with Pompe disease, focusing on individual variability in treatment response. In this prospective, multicenter cohort study, the authors studied 30 patients from the Netherlands and France who had started ERT during the only randomized … [Read more]
Tacrolimus improves survival in dermatomyositis with interstitial lung disease
Interstitial lung disease (ILD) accompanied by anti-melanoma differentiation-associated gene 5 (MDA5)-positive dermatomyositis (DM) is often rapidly progressive and associated with poor prognosis. Because there is no established treatment, we prospectively evaluated the efficacy and safety of a combined immunosuppressive regimen for anti-MDA5-positive DM with ILD. Adult Japanese patients with newly onset anti-MDA5-positive DM with ILD … [Read more]
Impact of adding tacrolimus to initial treatment of interstitial pneumonitis in polymyositis/dermatomyositis: a single-arm clinical trial
Interstitial pneumonia is common and has high short-term mortality in patients with PM and DM despite glucocorticoid (GC) treatment. Retrospective studies suggested that the early use of immunosuppressive drugs with GCs might improve its short-term mortality. A multicentre, single-arm, 52-week-long clinical trial was performed to test whether the initial combination treatment with tacrolimus (0.075 mg/kg/day, … [Read more]
Improvement of SMA via correction of the SMN2 splicing defect by Brucea javanica (L.) Merr. extract and Bruceine D.
Spinal muscular atrophy (SMA) is a rare neuromuscular disease and a leading genetic cause of infant mortality. SMA is caused primarily by the deletion of the survival motor neuron 1 (SMN1) gene, which leaves the duplicate gene SMN2 as the sole source of SMN protein. The splicing defect (exon 7 skipping) of SMN2 leads to … [Read more]
Stabilization of early Duchenne cardiomyopathy with aldosterone inhibition: results of the multicenter AIDMD trial
Duchenne muscular dystrophy incurs nearly universal dilated cardiomyopathy by the third decade of life, preceded by myocardial damage and impaired left ventricular strain by cardiac magnetic resonance. It has been shown that (1) mineralocorticoid receptor antagonist therapy with spironolactone attenuated damage while maintaining function when given early in a mouse model and (2) low-dose eplerenone … [Read more]
Use of advanced heart failure therapies in DMD
As survival and neuromuscular function in Duchenne Muscular Dystrophy (DMD) improve with glucocorticoid therapy and respiratory advances, the proportion of cardiac deaths is increasing. Little is known about the use and outcomes of advanced heart failure (HF) therapies in this population. A retrospective cohort study of 436 males with DMD was performed, from January 1, … [Read more]
No effect of triheptanoin on exercise performance in McArdle disease
The objective is here to study if treatment with triheptanoin, a 7-carbon triglyceride, improves exercise tolerance in patients with McArdle disease. McArdle patients have a complete block in glycogenolysis and glycogen-dependent expansion of tricarboxylic acid cycle (TCA), which may restrict fat oxidation. The authors hypothesized that triheptanoin metabolism generates substrates for the TCA, which potentially … [Read more]
Gene correction of LGMD2A patient-specific iPSCs for the development of targeted autologous cell therapy
Limb girdle muscular dystrophy type 2A (LGMD2A), caused by mutations in the Calpain 3 (CAPN3) gene, is an incurable autosomal recessive disorder that results in muscle wasting and loss of ambulation. To test the feasibility of an autologous induced pluripotent stem cell (iPSC)-based therapy for LGMD2A, here the authors applied CRISPR-Cas9-mediated genome editing to iPSCs … [Read more]
Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis
Individuals with X-linked myotubular myopathy (XLMTM) who survive infancy require extensive supportive care, including ventilator assistance, wheelchairs and feeding tubes. Half die before 18 months of age. The authors explored respiratory support and associated mortality risk in RECENSUS, particularly among patients ≤5 years old who received respiratory support at birth; this subgroup closely matches patients … [Read more]
miR-1 is a novel biomarker for polymyositis/dermatomyositis-associated interstitial lung disease
Although intensive immunosuppressive treatment is necessary for the severe cases with polymyositis (PM)/dermatomyositis (DM), the prognostic factors or disease activity indices for PM/DM have not been established. Here the authors investigated the association between serum microRNA-1 (miR-1) level and clinical course of patients with PM/DM. They retrospectively reviewed baseline clinical and laboratory findings, treatment regimens … [Read more]
