Blog Archives

Mutations in DMD disrupt the reading frame, prevent dystrophin translation, and cause Duchenne muscular dystrophy (DMD). Here the authors describe a CRISPR/Cas9 platform applicable to 60% of DMD patient mutations. They applied the platform to DMD-derived hiPSCs where successful deletion and non-homologous end joining of up to 725 kb reframed the DMD gene. This is … [Read more]

  This study aimed to explore the value of nuclear magnetic resonance (NMR) and functional assessments for follow-up of ambulatory and nonambulatory patients with Duchenne muscular dystrophy (DMD). Twenty-five 53-skippable patients with DMD were included in this study; 15 were nonambulatory at baseline. All patients underwent clinical and functional assessments every 6 months using the … [Read more]

Two multicenter randomised, double-blind, placebo-controlled trials were carried out to determine the short-term and long-term effects of dichlorphenamide (DCP) on attack frequency and quality of life in hyperkalemic (HYP) and hypokalemic (HOP) periodic paralysis. The trials, which included 44 HOP and 21 HYP participants, lasted 9 weeks and were followed by a 1-year extension phase … [Read more]

Nusinersen (previously ISIS-SMNRx) is an antisense oligonucleotide designed to bind to the SMN2 pre-mRNA and promote inclusion of exon 7. This first-in-human, open-label, single- ascending dose study was designed to examine safety, tolerability, pharmacokinetics, and preliminary clinical effects of intrathecal nusinersen in medically stable patients (aged 2-14 years) with type 2 and type 3 spinal … [Read more]

In this study, the authors aimed to determine the feasibility and reliability of testing specific putative physiological and molecular spinal muscular atrophy (SMA) biomarkers in infants with SMA (n=26) and in age‐matched healthy control infants (n=27). Recruitment occurred at 14 centers within the NINDS National Network for Excellence in Neuroscience Clinical Trials (NeuroNEXT) Network. Infant … [Read more]

Transcriptional signal cointegrators associate with transcription factors or nuclear receptors and coregulate tissue-specific gene transcription. This study reports on recessive loss-of-function mutations in two genes (TRIP4 and ASCC1) that encode subunits of the nuclear activating signal cointegrator 1 (ASC-1) complex. Autozygosity mapping and whole-exome sequencing were used to search for pathogenic mutations in four families. … [Read more]