Clonal Architecture of ASXL1-mutated Myelofibrosis
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Clonal architecture determination.
- Who it may be relevant to
- Registry conditions: Myelofibrosis. Basic parameters: from 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
Prospective study to decipher the clonal architecture of ASXL1-mutated primary and secondary myelofibrosis and its impact on prognosis
Detailed description
The clonal architecture of myelofibrosis patients is still little described. Inconsistent results in terms of the prognostic value of some mutations are observed in the literature, in particular concerning ASXL1 mutations. We assume that a better understanding of the clonal architecture of ASXL1-mutated myelofibrosis could help refining the prognostic impact of ASXL1 mutations.
This study aims to evaluate a multicenter cohort of 50 patients. Blood of patients will be collected within 18 months of diagnosis. After 4 years of follow-up of the patient as part of his usual care, data on survival and leukemic transformation will be collected.
Interventions
- Biological Clonal architecture determination
Biological: * Determination of clonal architecture by sorting of circulating CD34 positive cells followed by cell culture and colony genotyping and/or single-cell DNA-sequencing * Secondary outcome: transcriptomic study by RNA-sequencing
Primary outcome measures
- Identify subgroups of ASXL1-mutated myelofibrosis based on clonal architecture data [Time frame: 24 months]
Secondary outcome measures (10)
- Description of previously constituted prognostic genomic groups (according to Luque Paz et al. 2021) within identified clusters of clonal architecture [Time frame: 24 months]
- Studying the functional characteristics of each subtype of clonal architecture by transcriptomics [Time frame: 24 months]
- Comparison of male proportion within the subtypes of clonal architecture [Time frame: 24 months]
- Comparison of age at the time of diagnosis within the subtypes of clonal architecture [Time frame: 24 months]
- Comparison of blood counts within the subtypes of clonal architecture [Time frame: 24 months]
- Comparison of LDH levels within the subtypes of clonal architecture [Time frame: 24 months]
- Comparison of splenomegaly proportion within the subtypes of clonal architecture [Time frame: 24 months]
- Comparison of constitutional symptoms proportion within the subtypes of clonal architecture [Time frame: 24 months]
- Evaluation of overall survival of the patients at 4 years according to their clonal architecture profile [Time frame: 72 months]
- Evaluation of the leukemia-free survival of the patients at 4 years according to their clonal architecture profile [Time frame: 72 months]
Eligibility criteria
Inclusion criteria
- Adults (age ≥18 years),
- Affiliated to the national social security system,
- ASXL1 mutated primary or secondary myelofibrosis,
- Signed the consent to participate in the study,
- Included, or consenting to be included, in the national clinical-biological database of France Intergroupe Syndrome Myéloprolifératifs (FIM).
Exclusion criteria
- Patient with another active hematological disease or cancer at the time of diagnosis,
- Person subject to legal protection scheme or incapable of giving consent.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Allocation
- N/A
- Model
- Single group
- Masking
- Open label
- Primary purpose
- Other
Study locations
France · 13 centers
- CHU Angers — Angers
- CHRU Brest — Brest
- CH Cholet — Cholet
- CHU Henri MONDOR — Créteil
- Institut Paoli Calmettes — Marseille
- CHU Nantes — Nantes
- AP-HP Hôpital Saint Louis — Paris
- Hôpital Bicêtre — Paris
- … and 5 more centers
Identifiers
NCT: NCT05710211 · 2022-A02497-36