Clinical trial NCT05710211: Clonal Architecture of ASXL1-mutated Myelofibrosis
Official title: Clonal Architecture of ASXL1-mutated Myelofibrosis
Study type: INTERVENTIONAL
Overall status: RECRUITING
Phase: NA
Conditions: Myelofibrosis
Lead sponsor: University Hospital, Angers
Sponsor class: OTHER_GOV
First posted: 2023-02-02
Enrollment: 50
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: OTHER

Brief summary: 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.

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.

Primary outcomes:
measure: Identify subgroups of ASXL1-mutated myelofibrosis based on clonal architecture data
timeFrame: 24 months
Secondary outcomes:
measure: Description of previously constituted prognostic genomic groups (according to Luque Paz et al. 2021) within identified clusters of clonal architecture
timeFrame: 24 months
measure: Studying the functional characteristics of each subtype of clonal architecture by transcriptomics
timeFrame: 24 months
measure: Comparison of male proportion within the subtypes of clonal architecture
timeFrame: 24 months
measure: Comparison of age at the time of diagnosis within the subtypes of clonal architecture
timeFrame: 24 months
measure: Comparison of blood counts within the subtypes of clonal architecture
timeFrame: 24 months
measure: Comparison of LDH levels within the subtypes of clonal architecture
timeFrame: 24 months
measure: Comparison of splenomegaly proportion within the subtypes of clonal architecture
timeFrame: 24 months
measure: Comparison of constitutional symptoms proportion within the subtypes of clonal architecture
timeFrame: 24 months
measure: Evaluation of overall survival of the patients at 4 years according to their clonal architecture profile
timeFrame: 72 months
measure: Evaluation of the leukemia-free survival of the patients at 4 years according to their clonal architecture profile
timeFrame: 72 months
Other outcomes:
Locations:
city: Angers
country: France
facility: CHU Angers
city: Brest
country: France
facility: CHRU Brest
city: Cholet
country: France
facility: CH Cholet
city: Creteil
country: France
facility: CHU Henri MONDOR
city: Marseille
country: France
facility: Institut Paoli Calmettes
city: Nantes
country: France
facility: CHU Nantes
city: Paris
country: France
facility: AP-HP Hôpital Saint Louis
city: Paris
country: France
facility: Hôpital Bicêtre
city: Pessac
country: France
facility: CHU de Bordeaux
city: Pierre Bénite
country: France
facility: CHU Lyon
city: Quimper
country: France
facility: CH de Cornouaille
city: Tours
country: France
facility: CHRU Tours - Hôpital Bretonneau
city: Vannes
country: France
facility: CH de Vannes
Study officials:
affiliation: University Hospital, Angers
name: POUILLART
role: STUDY_DIRECTOR
References: