Myelodysplastic SyndromesUMBRELLA-SUMMANCT06379945
Unified platforM for a Better integRal Evaluation of MyeLodyspLastic Syndromes in SpAin-Strategy for Unraveling Personalized genoMic Medicine in Public heAlth System (UMBRELLA-SUMMA)
An observational study of Myelodysplastic Syndromes, run by Instituto de Investigación Biomédica de Salamanca at 4 sites in Spain.
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… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Myelodysplastic Syndromes
- How many people
- 300 participants
- Where
- 4 sitesSpain
- Study dates
- 1 Jan 2024to 31 Dec 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Patients with Myelodysplastic Syndrome at diagnosis
Who may be able to join
- 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
Who cannot join
- Patients under 18 years old
- Patients who do not sign the informed consent
Trial locations and contacts
4 sites in 1 country. Contact the study team or a site near you to ask about taking part.
Spain4 sites, 4 recruiting
- Recruiting
Fundación Instituto de Investigación Germans Trias i Puyol
Badalona, Barcelona, 08916
Francesc Solé, PhD, 935 57 28 06 ext. 4040, fsole@carrerasresearch.org
- Recruiting
Hospital Universitario Vall d´Hebron
Barcelona, 08035
David Valcárcel Ferreiras, PhD, 934 89 30 00, dvalcarcel@vhio.net
- Recruiting
Clínica Universitaria de Navarra
Pamplona, 31008
Felipe López Cardoso, PhD, 848 42 87 00, fprosper@unav.es
- Recruiting
Complejo Asistencial Universitario de Salamanca
Salamanca, 37007
María Díez Campelo, PhD, +34 923 29 11 00 ext. 55418, mdiezcampelo@usal.es
Sandra Muntión Olave, PhD, +34 923 29 11 00 ext. 55015, terapiacelular@usal.es
About this study
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.
Read the detailed description
Myelodysplastic syndromes (MDS) are hematologic malignancies characterized by bone marrow dysplasia, cytopenias (anemia, infections, bleeding), and a high risk of progression to acute myeloid leukemia (AML). Diagnosis and prognostic stratification are challenging, and treatment outcomes remain suboptimal, especially in elderly patients, who represent the majority of cases.
Beyond structural cytogenetic abnormalities found in 40-70% of patients, over 90% of MDS cases harbor somatic mutations impacting cellular function. Next-generation sequencing (NGS) has improved diagnosis, prognostication, and therapeutic decision-making.
The Spanish Group of MDS (GESMD) brings together over 400 professionals across 100+ centers and maintains RESMD, the world's largest MDS patient registry. In 2020, GESMD launched UMBRELLA to provide NGS access to participating centers, addressing a key clinical gap.
Building on UMBRELLA's success, the UMBRELLA-SUMMA project will:
- Implement Optical Genome Mapping (OGM) to enhance detection of chromosomal alterations, especially in cases where standard cytogenetics fail. We will explore the use of peripheral blood samples to minimize invasiveness.
- Expand access to NGS to GESMD members lacking this technology, supporting prognostic classification based on the IPSS-M, an updated molecularly integrated scoring system.
- Apply Artificial Intelligence (AI) to validate and improve a new AI-driven prognostic model for MDS developed within GESMD.
Additionally, the project will create biobanks of biological samples from GESMD patients, linked to clinical and epidemiological data within RESMD, ensuring optimal and regulated access for future research.
Given MDS heterogeneity, personalized medicine is essential. UMBRELLA-SUMMA will address this through the study of different patient subgroups (low-risk, high-risk, AML-transformed MDS) with a multidisciplinary team comprising clinicians, biologists, biotechnologists, and bioinformaticians.
Results will be disseminated among healthcare professionals, patients and their families via GESMD's patient resources, institutional websites, social media, and public engagement activities.
- Conditions
- Myelodysplastic Syndromes
- Keywords
- Optical Genome Mapping, Next Generation Sequencing, Artificial Intelligence, Clonal evolution
- Medical subject headings
- Myelodysplastic Syndromes
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 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
Measured: 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
Measured: 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
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Apr 2024
- Study start1 Jan 2024
- Primary completion1 Jan 2026 (estimated)
- Study completion31 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Myelodysplastic SyndromesStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 300 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Instituto de Investigación Biomédica de Salamanca
- Sponsor type
- University, hospital or other
- Collaborators
- Carlos III Health Institute
- Responsible party
- Sponsor
- Investigators
- María Díez Campelo, PhD MD, Study chair, Instituto de Investigación Biomédica de Salamanca
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06379945
- Sponsor's protocol ID
- PI23/01103
- Other IDs
- PI2024 01 1484
- Acronym
- UMBRELLA-SUMMA
- Status last verified
- Apr 2025
- First submitted
- 18 Apr 2024
- Last updated
- 2 May 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 2 May 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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)
- ClinicalTrials.gov ID
- NCT06379945
- Acronym / sponsor ID
- UMBRELLA-SUMMA / PI23/01103
- Conditions
- Myelodysplastic Syndromes
- Keywords
- Optical Genome Mapping, Next Generation Sequencing, Artificial Intelligence, Clonal evolution
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- Instituto de Investigación Biomédica de SalamancaUniversity, hospital or other
- Collaborators
- Carlos III Health Institute
- Study start
- 1 Jan 2024 (actual)
- Primary completion
- 1 Jan 2026 (estimated)
- Study completion
- 31 Dec 2026 (estimated)
- First posted
- 23 Apr 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Myelodysplastic syndromes (MDS) are hematologic malignancies characterized by bone marrow dysplasia, cytopenias (anemia, infections, bleeding), and a high risk of progression to acute myeloid leukemia (AML). Diagnosis and prognostic stratification are challenging, and treatment outcomes remain suboptimal, especially in elderly patients, who represent the majority of cases.
Beyond structural cytogenetic abnormalities found in 40-70% of patients, over 90% of MDS cases harbor somatic mutations impacting cellular function. Next-generation sequencing (NGS) has improved diagnosis, prognostication, and therapeutic decision-making.
The Spanish Group of MDS (GESMD) brings together over 400 professionals across 100+ centers and maintains RESMD, the world's largest MDS patient registry. In 2020, GESMD launched UMBRELLA to provide NGS access to participating centers, addressing a key clinical gap.
Building on UMBRELLA's success, the UMBRELLA-SUMMA project will:
- Implement Optical Genome Mapping (OGM) to enhance detection of chromosomal alterations, especially in cases where standard cytogenetics fail. We will explore the use of peripheral blood samples to minimize invasiveness.
- Expand access to NGS to GESMD members lacking this technology, supporting prognostic classification based on the IPSS-M, an updated molecularly integrated scoring system.
- Apply Artificial Intelligence (AI) to validate and improve a new AI-driven prognostic model for MDS developed within GESMD.
Additionally, the project will create biobanks of biological samples from GESMD patients, linked to clinical and epidemiological data within RESMD, ensuring optimal and regulated access for future research.
Given MDS heterogeneity, personalized medicine is essential. UMBRELLA-SUMMA will address this through the study of different patient subgroups (low-risk, high-risk, AML-transformed MDS) with a multidisciplinary team comprising clinicians, biologists, biotechnologists, and bioinformaticians.
Results will be disseminated among healthcare professionals, patients and their families via GESMD's patient resources, institutional websites, social media, and public engagement activities.
Study design
- Observational model
- Other
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patients with Myelodysplastic Syndrome at diagnosis
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (2 listed)
- Patients under 18 years old
- Patients who do not sign the informed consent
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Structural variants and complex rearrangements in MDS
Time frame: Baseline
Optical Genome Mapping will be used to determine the presence of structural variant and complex rearrangements not detected by other conventional techniques
Mutations in MDS
Time frame: Baseline and follow up
Next Generation Sequencing will be use to define the IPSS-M (the International Molecular Prognostic Scoring System) in patients with MDS
Overall survival and leukemia-free survival in patients with MDS
Time frame: Baseline
The AIPSS-MDS (Artificial Intelligence Prognostic Scoring System for MDS) model will be validated to provide a personalized risk estimate for each individual patient
ISCIII collections of viable samples
Time frame: Baseline
To build and register ISCIII collections of viable samples (PB and BM cells), genetic material and/or plasma from all prospective MDS patients
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 May 2025.
- Individual participant dataSharing planned: Undecided
Related trials for Myelodysplastic Syndromes
RecruitingPhase 2
Testing New Therapies for Patients With Acute Myeloid Leukemia Who Are Newly Diagnosed and Have Not Yet Started Treatment (A MyeloMATCH Treatment Trial)
Acute Myeloid Leukemia, Acute Myeloid Leukemia Arising From Previous Myelodysplastic/Myeloproliferative Neoplasm
Active, not recruitingPhase 1/2
Omacetaxine + Azacitidine in Untreated Patients With High Grade MDS
High Grade Myelodysplastic Syndromes
RecruitingPhase 1/2
Pacritinib, a Kinase Inhibitor of CSF1R, IRAK1, JAK2, and FLT3, in Adults and Pediatric Participants 12 Years of Age or Older With Myelodysplastic Syndromes or Myelodysplastic/Myeloproliferative Neoplasms
Myelodysplastic Syndromes
Active, not recruitingPhase 2
Clofarabine and Melphalan Before Donor Stem Cell Transplant in Treating Patients With Myelodysplasia, Acute Leukemia in Remission, or Chronic Myelomonocytic Leukemia
Adult Acute Lymphoblastic Leukemia in Remission, Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome
Not yet recruitingPhase 1
ATRN-119 in Combination With Decitabine in Patients With TP53-Mutated AML or Higher-Risk MDS
Acute Myeloid Leukemia, High-risk Myelodysplastic Syndrome
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
María Díez Campelo, PhD MD study chair
Instituto de Investigación Biomédica de Salamanca
4 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Myelodysplastic Syndromes, run by Instituto de Investigación Biomédica de Salamanca at 4 sites in Spain.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 2 May 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites in Spain. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact María Díez Campelo, PhD MD (+34 923 29 11 00 ext. 55418, mdiezcampelo@usal.es), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Structural variants and complex rearrangements in MDS (time frame: Baseline). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 May 2025.