Myelodysplastic SyndromesSMD-RMB22NCT04701229
Haploinsufficiency of the RBM22 and SLU7 Genes in Del(5q) Myelodysplastic Syndromes
An observational study of Myelodysplastic Syndromes and Myelodysplastic Syndrome With Isolated Del(5Q), run by University Hospital, Brest at 3 sites in France.
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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Myelodysplastic Syndromes, Myelodysplastic Syndrome With Isolated Del(5Q), Myelodysplastic Syndrome With Del(5Q)
- What is being tested?
- somatic cytogenetic and genetic characterization
- How many people
- 100 participants
- Where
- 3 sitesFrance
- Study dates
- 30 Sep 2020to 30 Sep 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Patients diagnosed with myelodysplastic syndromes and presenting a deletion of chromosome 5 in their bone marrow cells
Who may be able to join
- 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
Who cannot join
- Patients under judicial protection (guardianship, ...)
- Refusal to participate
Trial locations and contacts
3 sites in 1 country.
France3 sites, 3 recruiting
- Recruiting
CHRU de Brest
Brest, 29609
Marie-Bérengère TROADEC
- Recruiting
Groupe Français de cytogénétique Hématologique
Paris, 75000
Florence Nguyen-Khac
- Recruiting
Groupe Français des Myélodysplasies
Paris, 75000
Michaela Fontenay
About this study
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.
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.
- Conditions
- Myelodysplastic Syndromes, Myelodysplastic Syndrome With Isolated Del(5Q), Myelodysplastic Syndrome With Del(5Q)
- Being tested
- somatic cytogenetic and genetic characterization
- Keywords
- RBM22, SLU7, transformation to acute myeloid leukemia, anemia
- Medical subject headings
- Myelodysplastic Syndromes, Chromosome 5q Deletion Syndrome, Anemia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
somatic cytogenetic and genetic characterizationGenetic
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.
| Study group | Role | What they receive |
|---|---|---|
| normal karyotype | control group Receives: Genetic: somatic cytogenetic and genetic characterization | |
| del5q-RBM22neg-SLU7neg | this group is characterized by its karyotype. It presents a 5q deletion, a loss of RBM22, a loss of SLU7. Receives: Genetic: somatic cytogenetic and genetic characterization | |
| del5q-RBM22neg-SLU7pos | this group is characterized by its karyotype. It presents a 5q deletion, a loss of RBM22 but no loss of SLU7 Receives: Genetic: somatic cytogenetic and genetic characterization | |
| 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 Receives: Genetic: somatic cytogenetic and genetic characterization | |
| del5q-RBM22pos-SLU7pos | this group is characterized by its karyotype. It presents a 5q deletion, and no loss of RBM22 nor SLU7 Receives: Genetic: somatic cytogenetic and genetic characterization |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: retrospective study on data collected; 2 years
Secondary outcomes (3)
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.
Measured: retrospective study on data collected; 2 years
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.
Measured: retrospective study on data collected; 2 years
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.
Measured: retrospective study on RNA collected; 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Jan 2021
- Study start30 Sep 2020
- Primary completion30 Sep 2022 (estimated)
- Study completion30 Sep 2023 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Myelodysplastic SyndromesStudies of the same condition, open and under way.
- More trials run by University Hospital, BrestThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Brest
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Marie-Bérengère TROADEC, Principal investigator, CHRU BREST
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04701229
- Sponsor's protocol ID
- SMD-RMB22 (29BRC20.0029)
- Acronym
- SMD-RMB22
- Status last verified
- Jan 2021
- First submitted
- 6 Jan 2021
- Last updated
- 8 Jan 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: All collected data that underlie results in a publication
Study at a glance
From the registry record, last updated by the sponsor on 8 Jan 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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.
- ClinicalTrials.gov ID
- NCT04701229
- Acronym / sponsor ID
- SMD-RMB22 / SMD-RMB22 (29BRC20.0029)
- Conditions
- Myelodysplastic Syndromes, Myelodysplastic Syndrome With Isolated Del(5Q), Myelodysplastic Syndrome With Del(5Q)
- Keywords
- RBM22, SLU7, transformation to acute myeloid leukemia, anemia
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- University Hospital, BrestUniversity, hospital or other
- Study start
- 30 Sep 2020 (actual)
- Primary completion
- 30 Sep 2022 (estimated)
- Study completion
- 30 Sep 2023 (estimated)
- First posted
- 8 Jan 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 5
| Arm | Type | Receives |
|---|---|---|
| normal karyotype | – | Genetic: somatic cytogenetic and genetic characterizationcontrol group |
| del5q-RBM22neg-SLU7neg | – | Genetic: somatic cytogenetic and genetic characterizationthis group is characterized by its karyotype. It presents a 5q deletion, a loss of RBM22, a loss of SLU7. |
| del5q-RBM22neg-SLU7pos | – | Genetic: somatic cytogenetic and genetic characterizationthis group is characterized by its karyotype. It presents a 5q deletion, a loss of RBM22 but no loss of SLU7 |
| del5q-RBM22pos-SLU7neg | – | Genetic: somatic cytogenetic and genetic characterizationthis group is characterized by its karyotype. It presents a 5q deletion, and no loss of RBM22, but a loss in SLU7 |
| del5q-RBM22pos-SLU7pos | – | Genetic: somatic cytogenetic and genetic characterizationthis group is characterized by its karyotype. It presents a 5q deletion, and no loss of RBM22 nor SLU7 |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patients diagnosed with myelodysplastic syndromes and presenting a deletion of chromosome 5 in their bone marrow cells
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (2 listed)
- Patients under judicial protection (guardianship, ...)
- Refusal to participate
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| somatic cytogenetic and genetic characterizationinvestigating 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. | Genetic | del5q-RBM22neg-SLU7neg, del5q-RBM22neg-SLU7pos, del5q-RBM22pos-SLU7neg, del5q-RBM22pos-SLU7pos, normal karyotype |
Primary outcome
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.
3 secondary outcomes
prognostic impact on blood count
Time frame: retrospective study on data collected; 2 years
prognostic impact on progression to leukemia
Time frame: retrospective study on data collected; 2 years
impact on gene expression and splicing profile
Time frame: retrospective study on RNA collected; 2 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Jan 2021.
- Individual participant dataSharing planned: Yes. All collected data that underlie results in a publication
Related trials for Myelodysplastic Syndromes
RecruitingPhase 2
Testing New Therapies for Patients With Acute Myeloid Leukemia Who Are Newly Diagnosed and Have Not Yet Started Treatment (A MyeloMATCH Treatment Trial)
Acute Myeloid Leukemia, Acute Myeloid Leukemia Arising From Previous Myelodysplastic/Myeloproliferative Neoplasm
Active, not recruitingPhase 1/2
Omacetaxine + Azacitidine in Untreated Patients With High Grade MDS
High Grade Myelodysplastic Syndromes
RecruitingPhase 1/2
Pacritinib, a Kinase Inhibitor of CSF1R, IRAK1, JAK2, and FLT3, in Adults and Pediatric Participants 12 Years of Age or Older With Myelodysplastic Syndromes or Myelodysplastic/Myeloproliferative Neoplasms
Myelodysplastic Syndromes
Active, not recruitingPhase 2
Clofarabine and Melphalan Before Donor Stem Cell Transplant in Treating Patients With Myelodysplasia, Acute Leukemia in Remission, or Chronic Myelomonocytic Leukemia
Adult Acute Lymphoblastic Leukemia in Remission, Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome
Not yet recruitingPhase 1
ATRN-119 in Combination With Decitabine in Patients With TP53-Mutated AML or Higher-Risk MDS
Acute Myeloid Leukemia, High-risk Myelodysplastic Syndrome
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Marie-Bérengère TROADEC principal investigator
CHRU BREST
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Myelodysplastic Syndromes and Myelodysplastic Syndrome With Isolated Del(5Q), run by University Hospital, Brest at 3 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 8 Jan 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Marie-Bérengère TROADEC ((33)298223324, marie-berengere.troadec@chu-brest.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
prognostic impact on anemia (time frame: retrospective study on data collected; 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Jan 2021.