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Haploinsufficiency of the RBM22 and SLU7 Genes in Del(5q) Myelodysplastic Syndromes (SMD-RMB22)

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ClinicalTrials.gov Identifier: NCT04701229
Recruitment Status : Recruiting
First Posted : January 8, 2021
Last Update Posted : January 8, 2021
Sponsor:
Information provided by (Responsible Party):
University Hospital, Brest

Study Description
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Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information
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.

Condition or disease Intervention/treatment
Myelodysplastic Syndromes Myelodysplastic Syndrome With Isolated Del(5Q) Myelodysplastic Syndrome With Del(5Q) Genetic: somatic cytogenetic and genetic characterization

Study Design
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Study Type : Observational
Estimated Enrollment : 100 participants
Observational Model: Cohort
Time Perspective: Retrospective
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.
Actual Study Start Date : September 30, 2020
Estimated Primary Completion Date : September 30, 2022
Estimated Study Completion Date : September 30, 2023

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Group/Cohort Intervention/treatment
normal karyotype
control group
 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.
del5q-RBM22neg-SLU7neg
this group is characterized by its karyotype. It presents a 5q deletion, a loss of RBM22, a loss of SLU7.
 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.
del5q-RBM22neg-SLU7pos
this group is characterized by its karyotype. It presents a 5q deletion, a loss of RBM22 but no loss of SLU7
 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.
del5q-RBM22pos-SLU7neg
this group is characterized by its karyotype. It presents a 5q deletion, and no loss of RBM22, but a loss in SLU7
 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.
del5q-RBM22pos-SLU7pos
this group is characterized by its karyotype. It presents a 5q deletion, and no loss of RBM22 nor SLU7
 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.


Outcome Measures
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Primary Outcome Measures :
  1. prognostic impact on anemia [ Time Frame: retrospective study on data collected; 2 years ]
    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.


Secondary Outcome Measures :
  1. prognostic impact on blood count [ Time Frame: retrospective study on data collected; 2 years ]
    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.

  2. prognostic impact on progression to leukemia [ Time Frame: retrospective study on data collected; 2 years ]
    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.

  3. impact on gene expression and splicing profile [ Time Frame: retrospective study on RNA collected; 2 years ]
    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.


Biospecimen Retention:   Samples With DNA
cytogenetic pellets; bone marrow patients cells

Eligibility Criteria
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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients diagnosed with myelodysplastic syndromes and presenting a deletion of chromosome 5 in their bone marrow cells
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
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04701229


Contacts
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Contact: Marie-Bérengère TROADEC (33)298223324 marie-berengere.troadec@chu-brest.fr
Contact: Nathalie DOUET-GUILBERT (33)298223324 nathalie.douet-guilbert@chu-brest.fr

Locations
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France
CHRU de Brest Recruiting
Brest, France, 29609
Contact: Marie-Bérengère TROADEC         
Groupe Français de cytogénétique Hématologique Recruiting
Paris, France, 75000
Contact: Florence Nguyen-Khac         
Groupe Français des Myélodysplasies Recruiting
Paris, France, 75000
Contact: Michaela Fontenay         
Sponsors and Collaborators
University Hospital, Brest
Investigators
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Principal Investigator: Marie-Bérengère TROADEC CHRU Brest
More Information
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Responsible Party: University Hospital, Brest
ClinicalTrials.gov Identifier: NCT04701229    
Other Study ID Numbers: SMD-RMB22 (29BRC20.0029)
First Posted: January 8, 2021    Key Record Dates
Last Update Posted: January 8, 2021
Last Verified: January 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: All collected data that underlie results in a publication
Supporting Materials: Study Protocol
Time Frame: Data will be available beginning three years and ending fifteen years following the publication
Access Criteria: Data access requests will be reviewed by the internal committee of Brest UH. Requestors will be required to sign and complete a data access agreement.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by University Hospital, Brest:
RBM22
SLU7
transformation to acute myeloid leukemia
anemia
Additional relevant MeSH terms:
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Preleukemia
Myelodysplastic Syndromes
Syndrome
Disease
Pathologic Processes
 Bone Marrow Diseases
Hematologic Diseases
Precancerous Conditions
Neoplasms