Summer Board Meeting 2020 - a report

On Friday 10th and Saturday 11th July we held our traditional Summer Board Meeting. As with all meetings held recently this was an online event allowing people to attend without having to travel in these uncertain times.

The first day consisted of a parallel series of online meetings allowing both Disease Working Groups and Cross-cutting Diagnostic Working Groups to 'get together' discuss past achievements and plan for future developments within the network.

On Saturday 11th July both the Educational Board and the Patient Advisory Board had their chance to meet up.

The Board Meeting itself attracted over 70 attendees and they were updated about the new registries hub project, COVID-19 survey results, progress with guidelines, new members of the network and much more.

Although the online experience was a valuable one, it can't compare to meeting up with fellow network stakeholders and developing working bonds. This is something that can only really be achieved in person. With this in mind, we will be trying our very best to organise a physical meeting as soon as possible. We really hope that this can be in the first half of 2021 and we will keep you informed as to our plans.

Registry Hub discusses the implementation of common data elements

The Euro-NMD Registry Hub was born from a proposal to build a patient-centred and interoperable registry hub for Rare Neuromuscular Diseases— EURO-NMD Registry. This registry will assist the EC in monitoring the quality of care for rare disease patients across the EU while providing the Euro-NMD Healthcare Providers (HCPs) with a necessary tool to benchmark their performance.

The project started in May 2020 and had its virtual kick-off meeting on the 26th of June 2020.The meeting was very successful and underline the commitment of all participants. The main idea is that the Euro-NMD Registry Hub intends to both  collect data from the patients seen by the 61 HCPs that participate in the Euro-NMD network but also use the data entered in existing disease-specific registries by ensuring the interoperability with those registries that allows federated queries to be run from the Euro-NMD Registry Hub platform.

We are currently discussing how to implement the Common Data Elements adopted by the EC and developed by the Joint Research Centre in each HCP.

Simultaneously, five groups for separate disease-areas (Myopathies, Neuropathies, Mitochondrial Disorders, Neuromuscular Junction Disorders and Motor Neuron Disease) are selecting key process indicators to reflect best the benefits patients receive from being cared by an ERN healthcare provider.

A website has been set up to provide information about this project. Please visit us on registry.ern-euro-nmd.eu.

Publication - European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy

Spinal muscular atrophy (SMA) used to be one of the most common genetic causes of infant mortality. New disease modifying treatments have changed the disease trajectories and most impressive results are seen if treatment is initiated in the presymptomatic phase of the disease.

Very recently, the European Medicine Agency approved Onasemnogene abeparvovec (Zolgensma®) for the treatment of patients with SMA with up to three copies of the SMN2 gene or the clinical presentation of SMA type 1. While this broad indication provides new opportunities, it also triggers discussions on the appropriate selection of patients in the context of limited available evidence.

To aid the rational use of Onasemnogene abeparvovec for the treatment of SMA, a group of European neuromuscular experts presents in this paper eleven consensus statements covering qualification, patient selection, safety considerations and long-term monitoring.

Publication - A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers

Autosomal dominant pathogenic variants in the filamin C gene (FLNC) have been associated with myofibrillar myopathies, distal myopathies, and isolated cardiomyopathies. Mutations in different functional domains of FLNC can cause various clinical phenotypes. A novel heterozygous missense variant c.608G>A, p.(Cys203Tyr) in the actin binding domain of FLCN was found to cause an upper limb distal myopathy (MIM #614065). The muscle MRI findings are similar to those observed in FLNC-myofibrillar myopathy (MIM #609524). However, the muscle biopsy revealed >20% of muscle fibers with nemaline bodies, in addition to numerous ring fibers and a predominance of type 1 fibers. Overall, this case shows some unique and rare aspects of FLNC-myopathy constituting a new morphologic phenotype of FLNC-related myopathies.