Investigating ferroptosis in patients with SF3B1-mutant myelodysplastic syndromes

Ferroptosis Study in SF3B1-mutant Myelodysplastic Syndromes (FerMDS)

This study is trying to see how a specific type of cell death related to iron buildup affects people with a certain genetic mutation in myelodysplastic syndromes.

Quick facts

• Phase: Not applicable
• Study type: Interventional
• Enrollment: 80 (estimated)
• Ages: 18 Years and up
• Sex: All
• Sponsor: University Hospital, Bordeaux (Academic / other)
• Locations: 3 sites (Pessac and 2 other locations)
• Trial ID: NCT05924074 on ClinicalTrials.gov

What this trial studies

This study focuses on myelodysplastic syndromes (MDS), which are blood disorders characterized by ineffective blood cell production and excessive cell death. It aims to explore the role of ferroptosis, a specific type of cell death linked to iron accumulation, in patients with SF3B1 mutations. By comparing bone marrow samples from MDS patients to those without the condition, the study seeks to determine the extent of ferroptosis activation in these patients. The methodology includes flow cytometry to analyze peroxidized lipids, which will help elucidate the pathophysiology of MDS and identify potential new therapeutic targets.

Who should consider this trial

Good fit: Ideal candidates for this study are adults aged 18 and older diagnosed with SF3B1-mutant myelodysplastic syndromes.

Not a fit: Patients who have been recently transfused or treated with hematopoietic growth factors may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to new treatment strategies for patients with myelodysplastic syndromes, improving their outcomes.

How similar studies have performed: While the role of ferroptosis in other conditions has been explored, this specific investigation in SF3B1-mutant MDS is novel and untested.

Eligibility criteria

Inclusion Criteria:

For all :

* Patients of legal age (age ≥ 18 years)
* Subjects affiliated to or benefiting from a social security scheme
* Free, written and informed consent signed by the participant and the investigator

For MDS patients :

* Sampling at diagnosis for MDS patients (WHO 2016 criteria)
* Presence of ring sideroblasts on bone marrow smear

For MGUS patients :

\- Sampling as part of the exploration of monoclonal gammopathy of undetermined significance (MGUS) for controls (WHO 2016 criteria).

Exclusion Criteria:

For all

* Patient transfused with red blood cells within 120 days prior to collection
* Patients treated with haematopoietic growth factors (EPO, TPO, G-CSF) within 30 days prior to collection
* Patients with conditions that affect systemic iron metabolism: hemochromatosis, Gaucher disease, ferroportin disease, porphyria cutanea tarda
* Person under a legal protection measure (legal protection, guardianship or curatorship)
* Person deprived of liberty by judicial or administrative decision
* Person who is unable to give consent
* Subject who is in an exclusion period after another study or who has participated in another interventional drug study within 30 days prior to entry into the protocol

Where this trial is running

Pessac and 2 other locations

• CHU de Bordeaux, Laboratoire d'Hématologie — Pessac, France (Not_yet_recruiting)
• CHU de Bordeaux, Service de Médecine Interne — Pessac, France (Not_yet_recruiting)
• CHU de Bordeaux, Service Hématologie Clinique et Thérapie Cellulaire — Pessac, France (Recruiting)

Study contacts

• Study coordinator: Victor-Emmanuel BRETT

Conditions Myelodysplastic Syndromes; Ferroptosis