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Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT04701229
Other study ID # SMD-RMB22 (29BRC20.0029)
Secondary ID
Status Recruiting
Phase
First received
Last updated
Start date September 30, 2020
Est. completion date September 30, 2023

Study information

Verified date January 2021
Source University Hospital, Brest
Contact Marie-Bérengère TROADEC
Phone (33)298223324
Email marie-berengere.troadec@chu-brest.fr
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial 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.


Recruitment information / eligibility

Status Recruiting
Enrollment 100
Est. completion date September 30, 2023
Est. primary completion date September 30, 2022
Accepts healthy volunteers No
Gender All
Age group 18 Years and older
Eligibility 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

Study Design


Related Conditions & MeSH terms


Intervention

Genetic:
somatic cytogenetic and genetic characterization
investigating the presence of some genes allelles (RBM22, SLU7, RBM27, other on chromosome 5) by FISH, and sequencing of a classical panel of myeloid genes including RBM22, SLU7, for somatic identification of genetic alterationss of the blasts.

Locations

Country Name City State
France CHRU de Brest Brest
France Groupe Français de cytogénétique Hématologique Paris
France Groupe Français des Myélodysplasies Paris

Sponsors (1)

Lead Sponsor Collaborator
University Hospital, Brest

Country where clinical trial is conducted

France, 

Outcome

Type Measure Description Time frame Safety issue
Primary prognostic impact on anemia To evaluate the prognostic impact of the dual loss of an RBM22 and a SLU7 allele compared to the loss of an RBM22 allele alone on anemia, as measured by the hemoglobin level in the blood, between diagnosis and one year in patients with del5q myelodysplastic syndrome. retrospective study on data collected; 2 years
Secondary prognostic impact on blood count To evaluate the prognostic impact of the double loss of an RBM22 allele and a SLU7 allele compared to the loss of an RBM22 allele alone on the other criteria of the blood count including leukocytes, platelets, monocytes, circulating blasts, VGM, myelemia. retrospective study on data collected; 2 years
Secondary prognostic impact on progression to leukemia To evaluate the prognostic impact of the double loss of an RBM22 and a SLU7 allele compared to the loss of an RBM22 allele alone on the progression to acute myeloid leukemia. retrospective study on data collected; 2 years
Secondary impact on gene expression and splicing profile To evaluate the impact of the double loss of an RBM22 allele and a SLU7 allele compared to the loss of an RBM22 allele alone on gene expression profiles, including splicing variants. retrospective study on RNA collected; 2 years
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