The event was also the occasion to introduce the new consortium ECRA – European CMT Research Association, an exciting initiative promoted by the ECMTF to foster cooperation among CMT specialists across Europe, involving patient associations and pharmaceutical industries.

👉 Learn more about ECRA

The conference brought together around 150 clinicians, researchers, representatives of patient associations, pharmaceutical industry professionals, and policy makers from all over the world to discuss the latest scientific advances on Charcot-Marie-Tooth disease (CMT).

Throughout the conference, key topics were explored, ranging from basic research and genetic diagnosis to clinical management and the development of new therapies. Dedicated sessions also examined the growing role of artificial intelligence and data sharing in research on hereditary neuropathies.

OUR RESEARCH GROUP’S PARTICIPATION

Thanks to the support and guidance of Prof. Stefania Corti and Dr. Federica Rizzo, two young researchers from the group we support at the Centro Dino Ferrari – Policlinico – University of Milan, Dr. Giulia Pagliari and Dr. Martina D’Agostino, took part in the conference.

They presented a poster highlighting the advances and experimental results of our research project on CMT2A – Mitofusin 2 (MFN2).

We are proud to see the growing international interest in CMT2A, with as many as four research projects on Mitofusin 2 presented: our Italian study, one from France, one from the United States, and one from the United Kingdom.
This international engagement gives hope for a faster path toward future therapeutic breakthroughs.

MAIN STUDIES ON MITOFUSIN 2 – CMT2A PRESENTED IN ANTWERP

PL3-01 – Nathalie Bernard Marissal (Université Aix-Marseille, France)
Presented two therapeutic approaches for CMT2A: a gene therapy and a pharmacological approach using IFB-088. Both strategies showed promising results that deserve further exploration.

👉 PL3-01 Bernard-Marissal – Aix Marseille 

P14 – Katherine Forsey (CMT Association, USA/UK)
Described the creation of an in vitro motor neuron model with the MFN2 R364W mutation, useful for studying the axonal and mitochondrial deficits typical of the disease.
The study highlights the advantages of human cell models for faster and more efficient research.

👉  Poster P14 Forsey – USA USA

P26 – Our Research Project
Presented by Dr. Martina D’Agostino, within the group coordinated by Prof. Stefania Corti and Dr. Federica Rizzo.
The study demonstrated that increasing MFN1 protein levels in a murine model of CMT2A has a highly protective effect, improving both axonal and mitochondrial function.

👉  Poster P26 D’Agostino – Italy

P32 – Lydia Jestice (University of Sheffield, UK)
Presented an in vitro model based on induced pluripotent stem cells (iPSC) carrying the R94Q mutation, obtained through the CRISPR/Cas9 gene editing technique.
This model allows detailed study of axonal transport mechanisms in CMT2A and the development of new hypotheses on disease pathogenesis.

👉  Poster P32 Jestice – UK

📄 Download the full Abstract Book (PDF), containing all the scientific abstracts presented at the conference, including ours.

AN EXPERIENCE OF GROWTH AND COLLABORATION

The participation of our young researchers in the Antwerp conference represented an important moment of scientific exchange and international collaboration, as well as recognition of the work carried out within our CMT2A research project.

We would like to warmly thank Prof. Stefania Corti and Dr. Federica Rizzo for making this participation possible, and Dr. Giulia Pagliari and Dr. Martina D’Agostino for representing our research group with professionalism and passion at such a high-level scientific event.