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NCT04701229: SMD-RMB22

Haploinsufficiency of the RBM22 and SLU7 Genes in Del(5q) Myelodysplastic Syndromes

Status unknown Last updated 8 January 2021
What this trial tests

trial testing somatic cytogenetic and genetic characterization in Myelodysplastic Syndromes in 100 participants. Status unknown.

Timeline
30 September 2020
Primary endpoint
30 September 2022
30 September 2023

Quick facts

Lead sponsorUniversity Hospital, Brest
StatusStatus unknown
Study typeOBSERVATIONAL
Enrollment100
Start date30 September 2020
Primary completion30 September 2022
Estimated completion30 September 2023
Sites3 locations across France

Drugs / interventions tested

Conditions studied

Sponsor

University Hospital, Brest

Who can join

18 and older, any sex, with Myelodysplastic Syndromes or Myelodysplastic Syndrome With Isolated Del(5Q). Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

No peer-reviewed publications indexed yet for this trial.

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Other recruiting trials for Myelodysplastic Syndromes

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Data sources for this page

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