EURO-NMD Registry Hub - Kick off meeting report

Over 20 people participated in an online kick off meeting for the new Registry Hub Project on Friday 26th June.

This three year project which will work very closely with our network has been funded to create an ERN EURO-NMD registry for all neuromuscular diseases (NMD) this also includes those people who have yet to receive a diagnosis. It will collect data from all our HCPs whilst also functioning as a hub for participating neuromuscular diseases registries. Building on work already undertaken, this project will pull existing information together in a way which is findable, accessible, interoperable and reusable. This is becoming more widely known as FAIR data.

We anticipate that the EURO-NMD Registry and Hub will offer the unique opportunity to the NMD communities and their HCPs, Centers, Patients and Patient Organizations to be able to communicate between them and exchange knowledge, experience and news.

Initial discussions focused on project governance, strategy, expectations, project work packages and future project governance. Further information about the progress of the registries hub will be delivered through our usual communication channels and newsletter. You can also visit the dedicated website to find out more about this exciting project.

Academia developing medicines for rare diseases to receive free European Medicines Agency scientific advice

To further encourage the development of treatments for rare diseases, EMA will waive all fees for scientific advice for academia developing orphan medicines.

The academic sector plays an important role in the development of innovative medicines. Their scientific research is often at the source of novel methodologies and innovative medicines with a potential to benefit patients with rare diseases.

Early interaction with EU regulators is important for academia to understand the regulatory requirements and allow the generation of robust evidence needed to establish the medicines’ benefits and risks. This helps them to navigate the regulatory process and ultimately to translate their discoveries into authorised, patient-focused medicines.

Publication - Neuromuscular diseases and Covid-19: Advice from scientific societies and early observations in Italy

The risk of a severe course of COVID-19 is increased in patients suffering with Neuromuscular disorders (NMD) due to the following comorbidities: muscular weakness of the chest and diaphragm, use of ventilator supports and/or presence of tracheostoma, weak airway clearance, cardiac involvement, rhabdomyolysis, comoribities, steroid and immunosuppressant treatments. NMD display varying levels of disability in people with the same diagnosis, thus it is difficult to give COVID-19 related general recommendations. Present advicess were designed for patients, caregivers, general neurologists and non-specialist medical providers. They address frequently asked questions and basic service requirements and are supported by a series of in-depth references. In this truly unprecedented situation, the clinical management of neuromuscular patients during the COVID-19 epidemics - taking into account the related difficulties (patients who have suspended ERT, difficulty in contacting the doctors, etc.) - we propose to use a telemedicine device, i.e. the AIGkit application (AIGkit app), promoted and developed in 2018 by Fabrizio Seidita on behalf of the Italian Glycogenosis Association (AIG). The app was born to allow patients with Pompe disease to receive as far as possible continuous monitoring of their health. The support of all colleagues of the Italian Association for Myology (AIM) should extend its use to all NMD patients and beyond.

Publication - Transthyretin amyloidosis: Testing strategies and model for center of excellence support

Appropriate testing strategies and strict model for Center Of Excellence (CoE) support are essential for the correct diagnosis, follow-up strategy and treatment plan for transthyretin (ATTR) amyloidosis. CoE is defined as a programme within a healthcare institution established to provide an exceptionally high concentration of expertise and related resources centred on a particular area of medicine, delivering associated care in a comprehensive, interdisciplinary fashion to afford the best patient outcome. Ideally, CoEs provide regular education and training for healthcare professionals and share knowledge and learning with other CoEs and specialists to ensure the highest standards of care.

Publication - The Italian multicenter experience with edaravone in amyotrophic lateral sclerosis

The aim of the study is to analyze the ALS disease progression and respiratory function of Italian patients treated with edaravone (EVN), as well as the adherence to, and the effects of, the therapy.

Validation of the Italian version of the Charcot‐Marie‐Tooth Health Index

The Charcot‐Marie‐Tooth Health Index (CMT‐HI) is a disease‐specific patient‐reported outcome measure measuring overall disease burden in Charcot‐Marie‐Tooth (CMT) patients, designed for natural history studies and clinical trials in English‐speaking affected individuals. We developed and validated its Italian Charcot‐Marie‐Tooth Health Index (I‐CMT‐HI) version. The questionnaire was translated and culturally adapted from source into Italian by two neurologists experienced in CMT and neuromuscular disorders (NMDs). The two translations were reviewed by a panel of seven experts in CMT and NMD. The provisional version was back‐translated into English by a professional translator. The definitive Italian version was developed during a consensus teleconference by the panel and a patient representative from ACMT‐Rete.