Monitoring genetic changes in low-risk MDS patients using blood samples

Monitoring Mutational Burden in Low Risk MDS Patients Using Sequential Peripheral Blood Samples

Observational Josep Carreras Leukaemia Research Institute · NCT04251078

This study is testing if analyzing blood samples for genetic changes can help doctors better understand and manage low-risk myelodysplastic syndromes without needing to do painful bone marrow biopsies.

Quick facts

Study typeObservational
Enrollment200 (estimated)
Ages18 Years and up
SexAll
SponsorJosep Carreras Leukaemia Research Institute Academic / other
Locations1 site (Badalona, Barcelona)
Trial IDNCT04251078 on ClinicalTrials.gov

What this trial studies

This observational study focuses on patients with myelodysplastic syndromes (MDS) categorized as very low, low, or intermediate risk. It aims to utilize next-generation sequencing (NGS) to analyze peripheral blood samples for genetic mutations, providing a less invasive alternative to traditional bone marrow biopsies. By monitoring mutational burden over time, the study seeks to enhance diagnostic and prognostic criteria for MDS management. The research will help establish standards for the application of NGS in routine clinical diagnostics.

Who should consider this trial

Good fit: Ideal candidates are patients with very low, low, or intermediate risk MDS who are not undergoing treatment or are only receiving supportive care.

Not a fit: Patients with isolated del(5q) MDS or those receiving disease-modifying therapies may not benefit from this study.

Why it matters

Potential benefit: If successful, this approach could lead to improved monitoring and management of MDS, reducing the need for painful procedures.

How similar studies have performed: Other studies have shown promise in using NGS for similar applications, indicating potential for success in this approach.

Eligibility criteria

Show full inclusion / exclusion criteria
Inclusion Criteria:

* Patients categorized as very low, low or intermediate risk according to the Revised International Prognosis Scoring System for MDS (IPSS-R).
* Patients that meet the previous criteria and are not receiving any treatment or are receiving supportive care only (erythropoietin is accepted).

Exclusion Criteria:

* Patients with "MDS with isolated del(5q)" diagnosis, according to 2017 World Health Organization Classification (WHO).
* Patients receiving any disease modifying therapies (e.g. hypomethylating agents).

Where this trial is running

Badalona, Barcelona

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions Myelodysplastic Syndromes
Last reviewed 2026-06-09 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.