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

Myelodysplastic Syndromes Clinical Trial

— UMBRELLA-SUMMA  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT06379945
• Other study ID #: PI23/01103
• Secondary ID: PI2024 01 1484
• Status: Recruiting
• Start date: January 1, 2024
• Est. completion date: December 31, 2026

Study information

• Verified date: April 2024
• Source: Instituto de Investigación Biomédica de Salamanca
• Contact: María Díez Campelo, PhD MD
• Phone: +34 923 29 11 00
• Email: mdiezcampelo[@]usal.es
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 300
• Est. completion date: December 31, 2026
• Est. primary completion date: January 1, 2026
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

Inclusion Criteria:

• 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

Exclusion Criteria:

• Patients under 18 years old

• Patients who do not sign the informed consent

Related Conditions & MeSH terms

• Myelodysplastic Syndromes
• Preleukemia
• Syndrome

Locations

Country	Name	City	State
Spain	Fundación Instituto de Investigación Germans Trias i Puyol	Badalona	Barcelona
Spain	Hospital Universitario Vall d´Hebron	Barcelona
Spain	Clínica Universitaria de Navarra	Pamplona
Spain	Complejo Asistencial Universitario de Salamanca	Salamanca

Sponsors (2)

Lead Sponsor	Collaborator
Instituto de Investigación Biomédica de Salamanca	Carlos III Health Institute

Country where clinical trial is conducted

Spain, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	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
Primary	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
Primary	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