Unified platforM for a Better integRal Evaluation of MyeLodyspLastic Syndromes in SpAin-Strategy for Unraveling Personalized genoMic Medicine in Public heAlth System (UMBRELLA-SUMMA)

Status: Recruiting
Location: See all (4) locations...
Study Type: Observational
SUMMARY

Myelodysplastic Syndromes (MDS) are heterogeneous clonal diseases characterized by difficult diagnosis, complex prognostic stratification and unsatisfactory treatment. Based on that, UMBRELLA SUMMA aims to provide better clinical management and personalized medicine to MDS patients in Spain through improving diagnosis (1), prognosis (2 and 3), and treatment (2), and facilitating future investigations (4) of the disease. More concretely, we propose: 1. The application of new technologies such as Optical Genome Mapping (OGM) in the diagnosis of those MDS cases whose cytogenetic alterations cannot be identify by other methods, as well as the implementation of this technology using peripheral blood avoiding more invasive methods for patients. 2. To provide all Spanish Group of MDS (GESMD) members who require it with the newly prognostic stratification of their patients (IPSS-M) by making Next Generation Sequencing (NGS) accessible for all of them. 3. Validate and improve a new prognostic system (AIPSS-MDS) previously developed within the GESMD, thanks to artificial intelligence, one of the tools with the most projection in the field of medicine currently. 4. To build and register ISCIII collections of cells, genetic material and/or plasma from all prospective MDS patients. On the other hand, the dynamics of coexisting mutations in a specific context of chromosomal abnormalities could be defining the clinical fate of each patient. Based on that, the IBSAL team recently proposed three models of MDS evolution based on NGS data from three different cytogenetic subgroups: normal karyotype, trisomy 8 and 5q deletion. The IBSAL proposal aims to deepen into the pathophysiological mechanisms of MDS evolution in these three models through in vitro and in vivo functional studies and single-cell multiomics approaches.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 18
Healthy Volunteers: f
View:

• Patients over 18 years old

• Patients with a confirmed diagnosis of MDS by cytogenetics and/or morphological analysis

• Patients with complete clinical data

• Patients who sign the informed consent

Locations
Other Locations
Spain
Fundación Instituto de Investigación Germans Trias i Puyol
RECRUITING
Badalona
Hospital Universitario Vall d´Hebron
RECRUITING
Barcelona
Clínica Universitaria de Navarra
RECRUITING
Pamplona
Complejo Asistencial Universitario de Salamanca
RECRUITING
Salamanca
Contact Information
Primary
María Díez Campelo, PhD MD
mdiezcampelo@usal.es
+34 923 29 11 00
Backup
Mónica del Rey González, PhD
mdelrey@usal.es
+34 923 29 48 12
Time Frame
Start Date: 2024-01-01
Estimated Completion Date: 2026-12-31
Participants
Target number of participants: 300
Related Therapeutic Areas
Sponsors
Leads: Instituto de Investigación Biomédica de Salamanca
Collaborators: Carlos III Health Institute

This content was sourced from clinicaltrials.gov