News from around the world

AIM

The period October-December was dedicated to the organizations of an important event, entitled “Transformative Advances in Neuromuscular Treatment: Next Generation Therapies” that was held in Milan on Friday, November 29, 2024. The Scientific Director of the event was Prof. Giacomo P. Comi, President of AIM. 

On this occasion, the AIM Board of Directors was renewed. Received votes: Vincenzo Nigro (Naples), as President; Matteo Garibaldi (Rome), Marina Grandis (Genua), Lorenzo Maggi (Milan), Michelangelo Mancuso (Pisa), Olimpia Musumedi (Messina), Federica Ricci (Turin), Lucia Ruggiero (Naples) and Antonio Trabacca (Brindisi) - Federica Trucco (Genua) ex aequo, as Board members. 

The Association also sponsored other events such as the second edition of the Pisa Muscle Award conference, held in Pisa on November 15, in the historical Aula Magna of Sapienza. The meeting was masterfully organized by Professors Gabriele Siciliano, Michelangelo Mancuso and Giulia Ricci from the Department of Neurology of the Pisa University. 

The event was born from the intention to celebrate an award for the advancement of clinical myological knowledge, in the wake of a long Italian tradition and in the sign of the interest that the Neurology group of Pisa has dedicated to the subject. During the event, not only were the innovations and challenges in the field of muscle diseases presented, but it was also possible to celebrate an extraordinary career that has left an indelible mark in the research and treatment of these disorders, by awarding the Pisa Muscle Award to Professor Luisa Politano.

Furthermore, on the same day and in the same location, the first meeting of the Italian Study Group of the Italian Association of Myology on Myotonic Dystrophy was held, coordinated by Gabriele Siciliano. During the meeting, the study group shared the need to harmonize data collection for Myotonic Dystrophy (DM1) among the different centers through the identification of an extended dataset and a more restricted one, which may include clinical scales, clinical data, laboratory and instrumental parameters. The study group chose to call itself “AIM Group for Myotonic Dystrophies and Non-Dystrophic Myotonias”. 

The second event, sponsored by the Association was the 3rd Symposium of the AIM Clinical Group for the study of FSHD and the Annual Meeting of the AIM Group for Pompe Disease, that took place in Turin, last 13 and 14 December, organized by Professor Tiziana Mongini and Doctor Liliana Vercelli. Both Study Groups were created thanks to the participation of over 25 third-level Italian Neuromuscular Centers affiliated with the Italian Association of Myology, with the aim of strengthening the network of Italian clinicians and researchers who have been involved for years in the study of these neuromuscular pathologies with a high health and social impact.

The Italian Centers that have been collaborating in the field of FSHD for years met to share the strengths and critical points regarding this complex disease, comparing geneticists and clinicians, including the discussion of complex clinical cases, with wide openness on the current therapeutic panorama and on new projects.

The presence and role of the Patient Associations (FSHD Italia, UILDM and FSHD Society) were of great importance, as they participated in a dedicated session.

The meeting of the AIM Group for Pompe disease presented the results of the Network’s activity in recent years; the new therapeutic perspectives were discussed including the recent European POmpe Consortium (EPOC) indications, the state of the art on the registries, and the numerous new collaborative proposals already underway or to be implemented shortly.

The XXV AIM congress will be held in Sicily, Italy in June 2025. Information will be available at the website: https://www.miologia.org and at info@fclassevents.com.

NIL Association

The Association of the Italian Network of Laminopathies (NIL) started its activity in 2009 with the aim of promoting biomedical and clinical research on Laminopathies and was established as a legal entity in Bologna on July 14^th, 2023. The Association is open to all those who want to share its perspectives, statute and regulations. 

The XXIX Congress of the Network was held in Bologna, on 25^th October 2024. The topics of the conference concerned the different phenotypes associated to mutations in LMNA A/C gene and the study of laminomics. 

The meeting opened with a tribute to Sammy Basso, a founder of NIL and member of the NIL Board of Directors, who suddenly passed away during the night between October 5th and 6th, 2024. Sammy had written an inspiring letter to all NIL members, supposed to be read after his passing. The letter was read at the NIL meeting and we are pleased to share it with our readers. It is reported below.

November 3, 2017

Dear Giovanna, Dear All, My Friends,

If you are reading these words, then it means that I am no longer in the world of the living. I am not writing these words because I feel that the end is near, but only because I know that it will come and that in my case it may be sooner than expected. I am a believer and therefore I place no limits on God’s Providence, but I am also a man of science, who reads the data and understands what state an organism is in; without any inhibition, even if the organism in this case is my own. These words of mine, matured from this awareness, are the simple fruit of a responsibility I feel inside: it always pained me to think that once I passed away I would not be able to say the things I most wanted to say to those most dear to me, along with the last recommendations to the people with whom I shared projects.  

All of you, and the whole Italian Network for Laminopathies, belong to both of these categories. In fact, not only are we united by a grand project, but all of you are very important people in my life. I know that it is strange reading this letter now that I am no longer with you, but take it as one last contribution I want to make to our cause. I leave to you, Giovanna, the burden of sharing my words to everyone else in the way you prefer, reading it, printing it out, sending it...

In truth there are not many things I have to say to you, nothing at least that I have not already said, or that I have not demonstrated by my actions.

I would like to write to all of you, individually, because all of you, in your diversity, are unique, but I think it is much better to speak to all of you like this, so that the same words reach everyone, in perfect alignment with our project, a Network where unity is strength, where everything is available to everyone, where the only goal is doing the best possible.

You cannot imagine, beyond the friendship that binds us, the impact that you all have had in my life, in the life of my family, and by reflection in the lives of all patients and their respective families.

Knowing that there are people like you all, who are committed to finding a solution, a cure, to something as simple as a one-base mutation, out of billions of others, that creates problems so complicated that anyone else would be afraid to try to defeat it, is an incredible hope. For a family, for a patient, your commitment is as important as daily food, without which one cannot live, why ... you all know it better than I do.

Being a researcher or a physician is something that goes beyond just simply work. Some people think that working in these fields is like working in any other field, but seeing and spending many good times with you all, I know very well that it is not so. To work to the point of exhaustion, to never stop studying, to do it even though there are many much easier and much more profitable jobs, is concrete proof. And if that’s not enough, what is surely the most material evidence, one only has to see the light that you all have in your eyes to know that for you all it’s a mission.

In addition, for me, besides being my friends, you all have not only been a hope for a better life, you all have also been a model of inspiration. If I had not seen you all at work, probably I would never have chosen to engage in research myself. Many people have their idols in sports figures, actors, and other famous people; my idols on the other hand are holding test tubes. And like you all, I chose research for the hope of a better world, not for anything else. Inspiration like this is much more important than a disease, it is much more important than progeria. And when I think that without progeria I would not have met all of you and would never have chosen to be a researcher...well, then even for that alone progeria had meaning in my life.

Continue like this, my friends, to live with the desire to discover and never give-up. We have done great things, and I am not referring only to advancements in research but also our way of working as a group, which in my opinion is the winning choice. Thanks to the interactions, we can contribute to the research of whoever desires and thanks to the patients we are able to bring the scientific world into everyday life.

Thanks to the physicians and research scientist, every patient has the hope to be healthier, and I am not referring only to physical health but also psychological.

I have seen our Network come into being and I have seen it grow, I have seen it establish itself internationally, and I have seen it act in the spirit of collaboration that should be innate to every field of human life. Keep up the good work, my friends, know that it has been my honor to stand by your all’s side, to design and put my hands to work with you, and last but not least, to share some good laughs.

Know that I go away happy, without fear, for as you all well know, death is part of life and something natural.

If  I am worthy, I am now in the arms of My Heavenly Father, who has sustained me all my life and without whom I would not have been able to give the slightest help to our cause. If I am allowed to, I will look down on you all from above and try to lend an even better hand than I did in life,

An enormous hug to all of you,

Yours

The next meeting of the Italian Network for Laminopathies will be on Friday April 11, 2025. Further information is available at the Association website: https://www.igm.cnr.it/laminopatie

e-NMD

The 5^th eNMD conference in E-health & innovation to Overcome Barriers in Neuromuscular Diseases  will be held in Taormina, Italy, in November 2025.

MSM

The 14^th Meeting of the Mediterranean Society of Myology (MSM) will take place in 2025. Proposals to organize and host the event are welcome.

WMS 

The 29^th International Annual Congress of the World Muscle Society was held  in Prague (Czechia), from  8 to 12 October 2024.

The conference was a hybrid event, offering the flexibility of virtual participation. Both oral presentations and e-posters were available via the platform and app for delegates who wish to participate virtually. The main thematic topics of this congress focused on acquired myopathies were: 

Topic 1 - Acquired muscle disorders;

Topic 2 - Neuromuscular disorders around the world;

Topic 3 - RNA in NMD: clinical insights, patho-mechanisms and treatments.

Each day, a plenary session was dedicated to the selected topics. Speakers summarized the state of the field on the selected topics, covering clinical, molecular and other aspects.   Further information is available at the WMS website: https://www.wms2024.com

The next congress of WMS will be in Vienna, Austria in October 2025. In that occasion, the 30 years of the WMS and the 30th Anniversary Congress will be celebrated.