Infraestructura de Medicina de Precisión asociada a la Ciencia y la Tecnología
The DM1-Hub project will generate a network of scientific knowledge that will allow us to know the natural history of patients with Myotonic Dystrophy type 1 (DM1) in Spain, as well as to identify variants for the development of personalized and precision medicine approaches.
DM1 is a rare neuromuscular disease, affecting 1/10,000 individuals worldwide. It can appear at any time in life, affecting any organ. There is currently no treatment that can stop or slow down its course, nor do health professionals have tools to help them determine which patients will have greater clinical severity, which organs will be affected or which patients are most suitable for different clinical trials.
DM1-Hub will allow the establishment of a network of 80 professionals for the first time in Spain who will collect clinical and prospective lifestyle data from a cohort of 3,000 patients. In addition, in a pioneering way in the study of the disease, neuropsychological data will be collected that will allow us to evaluate the involvement of the central nervous system very accurately. Novel (epi)genomic and proteomic studies will be carried out on blood samples from patients, which will allow us to obtain data to predict aspects such as the severity of the pathology, increased risk of having certain organs affected, stratify patients for clinical trials and identify new therapeutic targets. DM1-Hub will also carry out intensive dissemination work, emphasizing the importance of early diagnosis, clinical follow-up and patient participation in registries. This informative work will be carried out in the general population, the health population and patient associations. DM1-Hub will mean a substantial improvement in health protocols for the follow-up of these patients that will improve their quality and/or life expectancy.
Objective 1. To generate a registry of 3,000 patients through the coordination of a consortium of more than 70 health professionals distributed in 8 Autonomous Communities, which will collect clinical, neuropsychological assessment and lifestyle data, which will allow the study of the natural history of DM1 in Spain.
Objective 2. To study the (epi)genome and proteome at various levels in the 3,000 DM1 patients.
Objective 3. Compare and analyze cross-referenced data from the registry and from (epi)genomic and proteomic data, to identify new modulating factors that are useful for the management of patients in the clinic, helping to predict the onset of symptoms or their prevention, and allowing the development of approaches related to personalized therapies in relation to genotypes/variants/modifiers that can be used to categorize subpopulations or the identification of new targets Therapeutic.
Objective 4. To improve the diagnosis of DM1 in Spain through communication activities.
(i) Scientific impact
The DM1-Hub project aims to generate a statewide network that will allow us to know the natural history of patients with Myotonic Dystrophy type 1 (DM1), as well as to define marks or characteristics of their genome and proteome for the development of precision medicine protocols.
DM1 is a rare neuromuscular disease, of genetic origin, with a worldwide prevalence of 1:10,000, and very heterogeneous clinical symptoms, appearing at any time of life and affecting numerous organs. This implies a significant reduction in the quality and time of life of patients. DM1 is the most prevalent myopathy in adults and currently, only palliative drugs are available to reduce the impact of some of its symptoms. A curative or disease-modifying drug has not yet been approved, although there are several developments in advanced stages of evaluation, a fact that has shown that there are still significant challenges to be addressed in DM1. Thus, healthcare professionals do not have tools to help them identify which patients will have greater clinical severity, which are more at risk of suffering problems in certain organs or systems, or whether there is the possibility of optimizing the choice of candidates for clinical trials.
DM1-Hub will integrate, for the first time in Spain, a network of 80 professionals who will actively collect prospective lifestyle and clinical data, including neuropsychological data as a novelty, from a cohort of 3,000 DM1 patients. In addition, blood samples will be obtained to address a massive (epi)genomic study using third-generation sequencers, and proteomic studies using mass spectrometry. Based on the comprehensive analysis of all these data, we want to provide answers to the challenges mentioned above, including the identification of new therapeutic targets, another aspect to be implemented in this pathology.
(ii) Impact on the NHS and patients
The DM1-Hub project aims to be the cornerstone to achieve a substantial change in the health protocols for monitoring these patients and that can improve their quality and/or life expectancy. At the same time, DM1-Hub also proposes an intense communication work, emphasizing the importance of early diagnosis, clinical follow-up and the establishment and participation in patient registries. This informative work will be carried out in the general population, the health population and patient associations, through press releases, personal communications, as well as through talks or interviews in the media.