MYELOCARTOCH: Evaluation of Optical Genome Mapping in Phi Negative Myeloproliferative Neoplasia in the Detection of Acquired Cytogenetic Abnormalities

Sponsor

Centre Hospitalier Universitaire, Amiens (Other)

Overall Status

Recruiting

CT.gov ID

NCT05714592

Collaborator

Hôpital Jeanne de Flandre LIlle (Other), Centre Henri Becquerel (Other)

300

Enrollment

Location

Arm

23.2

Anticipated Duration (Months)

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

Standard cytogenetics (CBA +/- FISH) is of diagnostic and prognostic interest in Ph- MPN. However, its value is limited by the low frequency of detected abnormalities. The development of tools to increase the sensitivity of detection of chromosomal alterations is therefore particularly adapted to these pathologies. Optical genome mapping (OGM) is a high resolution "long read" technique that allows the identification of structural and copy number variations at the whole genome level. Several recent studies suggest that OGM is a future tool for cytogenetic characterization of haematological disorders. Its ability to describe structural abnormalities, including balanced ones, represents a major advantage over currently used technologies. Thus, OGM seems to be the key tool for cytogenetics of haematological malignancies in the coming years, making it possible to replace, under certain conditions, not only karyotype and FISH, but CMA and even RT-MLPA for the search for fusion transcripts, thus filling in the gaps in these techniques while maintaining their advantages.

To define the place of this technology in Ph- MPN, the investigators will perform a OGM analysis on patients with Ph-MPN for whom bone marrow exploration is scheduled. These results will be compared with those of standard cytogenetics (CBA +/- FISH).

Condition or Disease	Intervention/Treatment	Phase
Myeloproliferative Neoplasm Optical Genome Mapping Cytogenetics Clonality Prognostic Stratification	Other: Blood sample	N/A

Study Design

Study Type:

Interventional

Anticipated Enrollment :

300 participants

Allocation:

N/A

Intervention Model:

Single Group Assignment

Masking:

None (Open Label)

Primary Purpose:

Basic Science

Official Title:

Evaluation of Optical Genome Mapping in Phi Negative Myeloproliferative Neoplasia in the Detection of Acquired Cytogenetic Abnormalities

Actual Study Start Date :

Jan 27, 2023

Anticipated Primary Completion Date :

Jan 1, 2025

Anticipated Study Completion Date :

Jan 1, 2025

Arms and Interventions

Arm	Intervention/Treatment
Experimental: Optical genome mapping	Other: Blood sample The referring haematologist will suggest that the patient participate in the study during the consultation. In these patients, we will perform OGM on the cytogenetic sample

Arm

Intervention/Treatment

Experimental: Optical genome mapping

Other: Blood sample

The referring haematologist will suggest that the patient participate in the study during the consultation. In these patients, we will perform OGM on the cytogenetic sample

Outcome Measures

Primary Outcome Measures

Number of patients with the same abnormalises detected with both OGM and standard cytogenetics [one year]
Number of patients for whom the OGM finds at least the abnormalises detected by standard cytogenetics.

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Inclusion Criteria:

Patient 18 years of age or older
Diagnosis or follow-up of polycythemia vera, essential thrombocythemia or primary or secondary myelofibrosis
Requires bone marrow cytogenetics at diagnosis or follow-up
Understanding of the French language
Information of the patient and collection of no objection
Person affiliated to a social security regime

Exclusion Criteria:

Patient with BCR::ABL positive myeloproliferative neoplasia.
Person with a medical history that may impair the ability to understand the information notice