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

NCT06379945 | Recruiting

• 2 other identifiers: PI23/01103PI2024 01 1484
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 4

Brief 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.

Conditions

Myelodysplastic Syndromes

Keywords

Optical Genome Mapping; Next Generation Sequencing; Artificial Intelligence; Clonal evolution

Outcome Measures

Primary Outcomes (4)

• Structural variants and complex rearrangements in MDS

  Optical Genome Mapping will be used to determine the presence of structural variant and complex rearrangements not detected by other conventional techniques

  Baseline

• Mutations in MDS

  Next Generation Sequencing will be use to define the IPSS-M (the International Molecular Prognostic Scoring System) in patients with MDS

  Baseline and follow up

• Overall survival and leukemia-free survival in patients with MDS

  The AIPSS-MDS (Artificial Intelligence Prognostic Scoring System for MDS) model will be validated to provide a personalized risk estimate for each individual patient

  Baseline

• ISCIII collections of viable samples

  To build and register ISCIII collections of viable samples (PB and BM cells), genetic material and/or plasma from all prospective MDS patients

  Baseline

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with Myelodysplastic Syndrome at diagnosis

You may qualify if:

• 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

You may not qualify if:

• Patients under 18 years old
• Patients who do not sign the informed consent

Sponsors & Collaborators

• Instituto de Investigación Biomédica de Salamanca: lead
• Carlos III Health Institute: collaborator

Study Sites (4)

Fundación Instituto de Investigación Germans Trias i Puyol

Badalona, Barcelona, 08916, Spain

RECRUITING

Hospital Universitario Vall d´Hebron

Barcelona, 08035, Spain

RECRUITING

Clínica Universitaria de Navarra

Pamplona, 31008, Spain

RECRUITING

Complejo Asistencial Universitario de Salamanca

Salamanca, 37007, Spain

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Mononuclear cells, DNA, RNA and plasma from bone marrow and/or peripheral blood of MDS patients (MNC;MSC)

MeSH Terms

Conditions

Myelodysplastic Syndromes

Condition Hierarchy (Ancestors)

Bone Marrow Diseases; Hematologic Diseases; Hemic and Lymphatic Diseases

Study Officials

• María Díez Campelo, PhD MD

  Instituto de Investigación Biomédica de Salamanca

  STUDY CHAIR

Central Study Contacts

María Díez Campelo, PhD MD

CONTACT

+34 923 29 11 00; mdiezcampelo@usal.es

Mónica del Rey González, PhD

CONTACT

+34 923 29 48 12; mdelrey@usal.es

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 18, 2024
• First Posted: April 23, 2024
• Study Start: January 1, 2024
• Primary Completion: January 1, 2026
• Study Completion (Estimated): December 31, 2026
• Last Updated: May 2, 2025

Record last verified: 2025-04

Locations

ES (4)