Clinical trial NCT04701229: Haploinsufficiency of the RBM22 and SLU7 Genes in Del(5q) Myelodysplastic Syndromes
Official title: Impact of the Double Haploinsufficiency of the RBM22 and SLU7 Genes in Del(5q) Myelodysplastic Syndromes Isolated or Not Compared to the Single Haploinsufficiency of RBM22 and Normal Karyotype Myelodysplastic Syndromes.
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Myelodysplastic Syndromes
Myelodysplastic Syndrome With Isolated Del(5Q)
Myelodysplastic Syndrome With Del(5Q)
Keywords: RBM22
SLU7
transformation to acute myeloid leukemia
anemia
Lead sponsor: University Hospital, Brest
Sponsor class: OTHER
First posted: 2021-01-08
Enrollment: 100
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients diagnosed with myelodysplastic syndromes and presenting a deletion of chromosome 5 in their bone marrow cells

Brief summary: Myelodysplastic syndromes (MDS) are malignant hematopathies of the elderly characterized by persistent cytopenias and the presence of deregulated clonal hematopoiesis. The risk of progression to acute myeloid leukemia (AML) is variable. Acquired cytogenetic abnormalities are found in less than 50% of de novo cases and up to 80% in secondary MDS. The deletion of the long arm of chromosome 5 (written del(5q)) is the most common abnormality in MDS (15%). Del(5q) MDS has a good prognosis, with a median survival of 6 years and a 15% risk of progression to AML. However, their life expectancy is shorter than the general population, and the quality of life of patients is diminished. These treatments are not that effective over a long period of time or not well tolerated, and the majority of patients die from causes related to their MDS, such as infections (38%), progression to AML (15%), or bleeding (13%). Two genes, RBM22 and SLU7, coding for proteins of the same complex involved in splicing pre-messenger RNA are carried on the long arm of chromosome 5. We investigate the pronostic impact and the predictive value of the double haploinsufficiency of the RBM22 and SLU7 genes in del(5q) myelodysplastic syndromes isolated or not compared to the single haploinsufficiency of RBM22 and normal karyotype myelodysplastic syndromes.


Eligibility criteria: Inclusion Criteria:

* Patients diagnosed with del5q MDS isolated or not
* The clinical and biological data are known at the time of diagnosis.
* The clinical and biological data are known 1 year after the diagnosis
* Consent for the collection of samples for research purposes
* Non-opposition obtained

Exclusion Criteria:

* Patients under judicial protection (guardianship, ...)
* Refusal to participate

Primary outcomes:
measure: prognostic impact on anemia
timeFrame: retrospective study on data collected; 2 years
Secondary outcomes:
measure: prognostic impact on blood count
timeFrame: retrospective study on data collected; 2 years
measure: prognostic impact on progression to leukemia
timeFrame: retrospective study on data collected; 2 years
measure: impact on gene expression and splicing profile
timeFrame: retrospective study on RNA collected; 2 years
Other outcomes:
Locations:
city: Brest
country: France
facility: CHRU de Brest
city: Paris
country: France
facility: Groupe Français de cytogénétique Hématologique
city: Paris
country: France
facility: Groupe Français des Myélodysplasies
Study officials:
affiliation: CHRU Brest
name: Marie-Bérengère TROADEC
role: PRINCIPAL_INVESTIGATOR
References: