Browsing by Author "Meola, Giovani (7005543642)"

The original version of this article [1] unfortunately included an error to an author's name. Author Jordi Díaz-Manera was erroneously presented as Jorge Alberto Diaz Manera. The correct author name has been included in the author list of this Correction article. For citation purposes the author's given name is Jordi and family name Diaz-Manera. Therefore, the correct citation of the author's details is: Diaz-Manera J. © 2019 The Author(s).

Background: Myotonic Dystrophy is the most common form of muscular dystrophy in adults, affecting an estimated 10 per 100,000 people. It is a multisystemic disorder affecting multiple generations with increasing severity. There are currently no licenced therapies to reverse, slow down or cure its symptoms. In 2009 TREAT-NMD (a global alliance with the mission of improving trial readiness for neuromuscular diseases) and the Marigold Foundation held a workshop of key opinion leaders to agree a minimal dataset for patient registries in myotonic dystrophy. Eight years after this workshop, we surveyed 22 registries collecting information on myotonic dystrophy patients to assess the proliferation and utility the dataset agreed in 2009. These registries represent over 10,000 myotonic dystrophy patients worldwide (Europe, North America, Asia and Oceania). Results: The registries use a variety of data collection methods (e.g. online patient surveys or clinician led) and have a variety of budgets (from being run by volunteers to annual budgets over €200,000). All registries collect at least some of the originally agreed data items, and a number of additional items have been suggested in particular items on cognitive impact. Conclusions: The community should consider how to maximise this collective resource in future therapeutic programmes. © 2018 The Author(s).

Purpose of review: This review aimed to summarize the clinical characteristics of myotonic dystrophy type 1 and to provide a comprehensive review of the current management options for DM1 patients. Recent findings: Tremendous advances in understanding the molecular pathophysiology of the disease have led to the first successful preclinical or even clinical studies of disease-modifying therapies. Repurposed small molecules, such are metformin and tideglusib, are probably closest to receiving market authorization, although they showed limited clinical efficiency in treated patients. In the last decade, different synthetic therapeutic oligonucleotides (STO) able to degrade toxic DMPK mRNA were successfully tested in DM1 preclinical studies. Following the failure of the first clinical trial of an STO in DM1 due to poor peripheral drug biodistribution, clinical studies of two other STOs, namely, AOC 1001 and DYNE-101, have been initiated in the past 2 years. Preliminary results revealed successful drug delivery to the targeted tissues with significant clinical efficacy and a satisfactory safety profile. Furthermore, promising preclinical results have been disclosed for CRISPR-based genetic modifying therapy. Summary: As there is currently no approved disease-specific therapy, a multidisciplinary approach and symptomatic therapy following recently proposed consensus-based care recommendations remain the pillars of good clinical practice managing DM1 patients. Nevertheless, significant breakthroughs in the field of oligonucleotide-based and gene therapy herald the exciting times of great potential for introducing the first causal therapy targeting the genetic cause of DM1. © 2023, The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.