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

NCT05714592 | Unknown

• 1 other identifier: PI2022_843_0023
• Study Type: interventional
• Target: 300
• Locations: 1 country
• Sites: 1

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).

Conditions

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

Keywords

Myeloproliferative Neoplasm; Optical genome mapping; Cytogenetics; Clonality; Prognostic stratification

Outcome Measures

Primary Outcomes (1)

• Number of patients with the same abnormalises detected with both OGM and standard cytogenetics

  Number of patients for whom the OGM finds at least the abnormalises detected by standard cytogenetics.

  one year

Study Arms (1)

Optical genome mapping

EXPERIMENTAL

Other: Blood sample

Interventions

Blood sample OTHER

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

Optical genome mapping

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• Centre Hospitalier Universitaire, Amiens: lead
• Hôpital Jeanne de Flandre LIlle: collaborator
• Centre Henri Becquerel: collaborator

Study Sites (1)

Centre Hospitalier Universitaire d'Amiens

Amiens, Picardie, 80000, France

RECRUITING

MeSH Terms

Conditions

Myeloproliferative Disorders

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Bone Marrow Diseases; Hematologic Diseases; Hemic and Lymphatic Diseases

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Central Study Contacts

Valentin Lestringant, MD

CONTACT

03 22 08 70 23; Lestringant.valentin@chu-amiens.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 27, 2023
• First Posted: February 6, 2023
• Study Start: January 27, 2023
• Primary Completion: January 1, 2025
• Study Completion: January 1, 2025
• Last Updated: February 22, 2023

Record last verified: 2023-02

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)