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

NCT05714592 · Status: UNKNOWN · Phase: NA · Type: INTERVENTIONAL · Enrollment: 300

Last updated 2023-02-22

No results posted yet for this study

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).

Conditions

  • Myeloproliferative Neoplasm
  • Optical Genome Mapping
  • Cytogenetics
  • Clonality
  • Prognostic Stratification

Interventions

OTHER

Blood sample

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

Sponsors & Collaborators

  • Hôpital Jeanne de Flandre LIlle

    collaborator UNKNOWN

  • Centre Henri Becquerel

    collaborator OTHER

  • Centre Hospitalier Universitaire, Amiens

    lead OTHER

Study Design

Allocation
NA
Purpose
BASIC_SCIENCE
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2023-01-27
Primary Completion
2025-01-31
Completion
2025-01-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05714592 on ClinicalTrials.gov