- Limb girdle muscular dystrophies (LGMD) are a group of rare genetic disorders characterized by slowly progressive weakness leading to variable degrees of disability ranging from mild problems in daily living to complete dependence on the help of others. In some cases, involvement of cardiac and respiratory muscles further complicates the clinical situation of patients. Based on the most recent classification, there are 32 genes reported to cause LGMD . Although some of these gene/disease associations were described more than 20 years ago, there is still more to be learned about the disease progression of different subtypes and a better understanding of their natural history is needed.
- There is considerable interest, excitement and anticipation for the development of adeno associated virus (AAV) gene therapy as a treatment for Duchenne muscular dystrophy (DMD). Much of this expectation is based on promising preclinical data as well as success in other neuromuscular conditions, such as spinal muscular atrophy (SMA). However, it is also important to take an objective view of the realistic possibilities and limitations of AAV gene therapy for DMD as well as considering the likely barriers to clinical trials and the development of gene therapy as an approved and accessible treatment.
- On September 2019, 19 participants from 9 countries attended the 247th European Neuromuscular Center (ENMC) workshop in Hoofddorp, The Netherlands, to discuss the standardization of muscle magnetic resonance (MR) imaging protocols, the development of a muscle MR imaging databank, and increasing the education and training of key MR imaging features of genetic myopathies for the wider medical community. The group included researchers and clinical experts in neuromuscular disease (NMD) MR imaging, as well as a young researcher and a patient representative from the European Patients Forum (EPF).
- On 1–3 June 2018, the 236th European Neuromuscular Centre workshop was held in Hoofddorp, The Netherlands, to discuss the issue of bone protective therapies in Duchenne muscular dystrophy (DMD), in particular, the feasibility of developing clinical trials. Twenty-six delegates, that included 19 experts in the neuromuscular and bone clinical and research fields, three representatives from patient organizations, two adults with DMD and two representatives from industry, attended this workshop.
- With the rapid increase in the number of interventional clinical trials in Duchenne muscular dystrophy (DMD) over the past few years, the need for a frank and honest discussion between those designing and using outcome measures has never been greater. In January 2017 clinicians, physiotherapists, imaging experts and patient advocacy group representatives came together for a two day workshop at The Foundry in London, UK, for a critical review of the different clinical outcome measures used to date in natural history studies and interventional trials for DMD.
- Historically, the classification and nomenclature of diseases has not been systematic and diseases were either classified by cause, presenting symptoms and signs, pathological features and organs involved, or they were named after the experts that first described them. An improved understanding of pathomechanisms, the identification of disease genes and an increase in the number of distinct disease entities led to nosological coding systems that are regularly updated and revised. On the one hand, there is a real need to revisit the nomenclature and classification systems of diseases and to update them according to new findings and coding standards; on the other hand, a change in disease names can be confusing for healthcare professionals and affected patients.
- In June 2014 TREAT-NMD organised a workshop at The Wellcome Trust head office in London to discuss issues such as natural history, outcome measures, efficacy measurements, animal models and clinical study design as part of the coordinated response to the public consultation by the European Medicines Agency (EMA) on the draft guidelines for clinical investigation of medicinal products in Duchenne and Becker muscular dystrophy (DMD/BMD). The workshop attracted over 60 participants from 9 countries representing patients, academics, and industry.
- Fifteen clinicians and basic scientists from six countries convened on 8th and 9th November 2002 in Naarden, The Netherlands for the 2nd ENMC sponsored Workshop on Multi-minicore Disease (MmD). The 1st ENMC sponsored workshop on MmD in May 2000 had lead to collaborations between the participating groups, resulting over the ensuing 2 years in a rapid advance in the understanding of this autosomal recessively inherited congenital myopathy. The main objective of this workshop was to discuss the recent identification of two genes (RYR1 and SEPN1) involved in at least two of the four MmD phenotypes that had been defined during the previous MmD consortium meeting.