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IGTP secures over €3.5 million to establish a national network addressing challenges of myotonic dystrophy type 1

This funding from Instituto de Salud Carlos III will enable Spanish patients to access, as soon as possible, scientific advancements in myotonic dystrophy type 1, a rare neuromuscular disease

The Instituto de Salud Carlos III (ISCIII) has announced the projects awarded under its call "PMPER24 - Research projects in rare diseases", part of the institution's Strategic Action in Health (AES) and the Joint Missions initiative by the Ministry of Health and the Ministry of Science, Innovation and Universities. A total of €20 million has been allocated to rare disease projects, resulting in eight grants across Spain, two of which are in Catalonia: one led by the Germans Trias i Pujol Research Institute (IGTP) and another by the Sant Pau Research Institute (SPAiN project).

Under this call, IGTP has received €3,547,417 in funding for the "DM1-Hub" project, coordinated by Dr Gisela Nogales Gadea, leader of the Badalona Neuromuscular Research Group (GRENBA). The co-lead investigator is Dr Arturo López Castel, from the Translational Human Genomics Research Group at the Instituto de Investigación Sanitaria INCLIVA of Hospital Clínico Universitario de València. The project involves 80 healthcare professionals across over 40 hospitals in Spain, four research institutes, and two universities. To facilitate collaboration and dissemination of results, Dr Virginia Arechavala Gomeza, leader of the Nucleic Acid Therapies for Rare Diseases group at the Biobizkaia Health Research Institute, will oversee communication efforts.

The "DM1-Hub" project aims to create a national network to track the progression of myotonic dystrophy type 1 (DM1), also known as Steinert's disease, and identify genomic and proteomic markers to develop precision medicine protocols. The initiative is supported by national and international patient associations, as well as regional health authorities.

Addressing the challenges of a rare disease

DM1 is a rare genetic neuromuscular disorder affecting approximately 1 in 10,000 people worldwide. Its clinical presentation is highly variable, potentially emerging at any stage of life and impacting multiple organs, reducing patients' quality of life and life expectancy.

This condition is the most prevalent myopathy in both adults and children. At present, only palliative medications are available to mitigate the impact of certain symptoms. No curative or disease-modifying treatments have yet been approved, although several drug candidates are in advanced stages of evaluation. This highlights the significant challenges that remain in addressing DM1. Healthcare professionals currently lack tools to identify patients at risk of higher clinical severity, determine those more likely to develop complications in specific organs or systems, or optimise the selection of candidates for clinical trials.

Collaborating for patient impact

DM1-Hub will, for the first time in Spain, unite a network of 80 professionals to prospectively collect lifestyle and clinical data, including neuropsychological factors, from a cohort of 3,000 patients. Blood samples will also be analysed using cutting-edge genomic and proteomic technologies. Through comprehensive data analysis, the project seeks to address DM1's challenges, including the identification of novel therapeutic targets, another aspect to be implemented in this pathology.

According to Dr Nogales, "DM1-Hub is a major challenge but will mark a turning point in research on this dystrophy in Spain, providing a significant boost towards the identification of biomarkers to offer solutions to patients in consultations and also for the implementation of treatments. Additionally, it will allow us to position ourselves in Europe and globally, so we can make a relevant contribution to the scientific advances that are being made, and so that our patients can access these advances as soon as possible. And we will do all this as a team, with a large group of enthusiastic professionals, with the support and guidance of patient associations and with the backing of health authorities".

Dr López also emphasises the importance of the project for those affected: "It was essential to be able to undertake a comprehensive clinical and genomic characterisation of the significant number of patients diagnosed with DM1 in Spain. With this project, we aim to position Spanish patients living with this rare disease at the forefront to benefit from therapeutic advances that are increasingly close to being approved".

Dr Arechavala highlights that "the project seeks to empower patients from the start, focusing on providing them with clear and accessible scientific information. In addition to sharing the results with the medical and scientific community, priority will be given to making them understandable for the patients themselves. The goal is to provide them with the necessary tools to understand their disease and make informed decisions about potential future treatments, thus enhancing their ability to decide on their own health".


The IIS IGTP

The Germans Trias i Pujol Research Institute (IGTP), like INCLIVA, is accredited as an Instituto de Investigación Sanitaria (IIS) by Instituto de Salud Carlos III (ISCIII). This recognition establishes IGTP as a national reference in biosanitary research management and highlights the excellence of its scientific results and the effective management of biomedical research and the beneficial returns in the clinical, social, and economic areas of the research and innovation carried out by the entity. As a centre of excellence, the Institute is responsible for coordinating the management of research and the scientific strategy, working closely with the other centres that make up the IIS.


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