DM1-Hub launches as a national multi-centre study to transform research and care for Myotonic Dystrophy type 1
Yesterday, 2 June, the Germans Trias i Pujol Research Institute (IGTP) hosted the kick-off event for the DM1-Hub, a multicentre project led by the Badalona Neuromuscular Research Group (GRENBA), which aims to create a comprehensive national registry of patients with Myotonic Dystrophy type 1 (DM1). Held in a hybrid format, the event brought together researchers, clinical professionals, institutional representatives and patient associations from across Spain.
The opening remarks were delivered by Jaume Coll Cantí, head of the Neuromuscular Unit at the Germans Trias i Pujol University Hospital (HUGTiP) until 2019, who highlighted the strategic value of the DM1-Hub within IGTP's translational and collaborative research ecosystem. He was joined by Rosario Perona, deputy director general for Evaluation and Promotion of Research at Instituto de Salud Carlos III.
This was followed by Gerardo Gutiérrez, a neurologist specialising in DM1 at the Hospital Universitario Infanta Sofía in Madrid, who reviewed the history of the disease and the progress achieved over the years.
The principal investigators of the project - Gisela Nogales (IGTP) and Arturo López (INCLIVA) - presented the scientific objectives and the general structure of the collaboration, which involves more than 100 professionals from 40 centres across eight autonomous communities. Virginia Arechavala (Biobizkaia) then emphasised the importance of communication and awareness-raising activities, as well as the need to ensure the project's long-term sustainability.
Next, Alvaro Larran, project manager of the DM1-Hub, outlined the study's roadmap and the progress made to date. Marc Corral, postdoctoral researcher at IGTP, provided insight into sample processing and the genomic and proteomic analyses forming part of the study.
In relation to patient visits, neurologists Sebastián Figueroa and Anna Revert, together with nurse Clara Moliner, from HUGTiP and IGTP, explained the design of the clinical assessments, the variables to be collected, and the project's multidimensional approach. In addition to standard clinical data, the project will gather genomic, epigenomic, and proteomic data, as well as comprehensive neuropsychological assessments, enabling an unprecedented characterisation of the disease and a deeper understanding of its natural history.
The event also featured a presentation by Beatriz Llamusí, scientific director and co-founder of Arthex Biotech, who introduced an innovative clinical trial promoted by the company and focused on developing new therapies for DM1.
Representatives of DM1 patient associations also took part in the event. Begoña Martín, director of the Federación ASEM, and Javier Baigorri, from the ADM1ES association, underlined the importance of such initiatives for people living with the disease. Jordi Cruz, head of Training and Research at FEDER, also spoke, highlighting the value of collaboration between scientific bodies and patient associations.
The event concluded with remarks by Julia García Prado, scientific director of IGTP, who reaffirmed the institute's commitment to research aimed at generating social impact.
Gisela Nogales, principal investigator of the project and leader of the GRENBA group at IGTP, summed up the essence of the DM1-Hub with these words: "This project was born with a clear mission: to improve the diagnosis and monitoring of DM1 patients through an integrated and collaborative approach". She concluded: "We are building a network that connects knowledge, patients and innovation with a shared goal: to transform the reality of those living with DM1".