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

Myeloproliferative Neoplasm Clinical Trial

— MYELOCARTOCH  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05714592
• Other study ID #: PI2022_843_0023
• Status: Recruiting
• Phase: N/A
• Start date: January 27, 2023
• Est. completion date: January 2025

Study information

• Verified date: February 2023
• Source: Centre Hospitalier Universitaire, Amiens
• Contact: Valentin Lestringant, MD
• Phone: 03 22 08 70 23
• Email: Lestringant.valentin[@]chu-amiens.fr
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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).

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 300
• Est. completion date: January 2025
• Est. primary completion date: January 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Chromosome Aberrations
• Chromosome Disorders
• Myeloproliferative Disorders
• Myeloproliferative Neoplasm

Intervention

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

Locations

Country	Name	City	State
France	Centre Hospitalier Universitaire d'Amiens	Amiens	Picardie

Sponsors (3)

Lead Sponsor	Collaborator
Centre Hospitalier Universitaire, Amiens	Centre Henri Becquerel, Hôpital Jeanne de Flandre LIlle

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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