Use of an Ultra-rapid BRCA1/2 Status Screening Test in Diagnostic and Theranostic Indication: Performance and Interest for Patients and Practitioners

NCT06111417 | Recruiting

• 1 other identifier: 2023-A02176-39
• Study Type: observational
• Target: 150
• Locations: 1 country
• Sites: 2

Brief Summary

The time taken to obtain the results of germline mutations in BRCA1 and BRCA2 has become a major issue in adapting the therapeutic management of patients, particularly those with breast cancer. The time taken to obtain the results of BRCA1/2 tests in routine laboratories with a view to personalised treatment can range from a few weeks to a few months. The waiting time required to obtain results is likely to cause stress and anxiety in cancer patients. The investigators hypothesise that ultra-rapid testing can reduce anxiety about patients' genetic status and improve their mental well-being. The main objective of this project is to compare the results obtained with an ultra-fast kit developed by O.N.T with those obtained with the current gold standard, NGS sequencing.

Conditions

Breast Cancer

Keywords

BRCA 1/2; breast cancer

Outcome Measures

Primary Outcomes (1)

• Compare the results obtained with an ultra-rapid kit BRCA1/2 with those obtained with the current gold standard, by checking the sensitivity, specificity and the rate of patients correctly classified for BRCA1 and 2 status

  The main objective will be to determine the rate of misclassified patients by pooling the 2 arms, false positives and false negatives. * True positives (VP) : patients presenting a BRCA 1 or 2 mutation with the ultrafast BRCA1/2 test and the gold standard. * False positives (FP) : patients with a BRCA 1 or 2 mutation using the BRCA1/2 ultrafast test and no BRCA 1 or 2 mutation using the gold standard. * True negatives (VN) : patients with no BRCA 1 or 2 mutation using the BRCA1/2 ultrafast test and the gold standard. * False negatives (FN) : patients without a BRCA 1 or 2 mutation using the BRCA1/2 ultrafast test and with a BRCA 1 or 2 mutation using the standard test. WELL classified = VP + VN, poorly classified= FP+ FN FPs will generate anxiety, and FNs will lead to a loss of chance for patients if the ultrafast BRCA1/2 test (nanopore test) is used exclusively instead of the gold standard. The overall number of misclassified patients must therefore be limited.

  During 2 months

Secondary Outcomes (4)

• Evaluate the sensitivity and specificity of the ultra-rapid BRCA1/2 test

  During 2 months

• To assess the impact on patients' mental well-being (anxiety or reassurance) using the State-Trait Anxiety Questionnaire (STAI-Y)

  During 2 months

• Evaluate clinician satisfaction with satisfaction scale used in genetic counselling

  During 2 months

• Evaluate patient satisfaction used in genetic counselling

  During 2 months

Study Arms (2)

Standard arm

Analysis carried out using the gold standard with BRCA1/2 results provided on average in 2 months for the theranostic analysis and 3 months for the "standard" analysis + ultrafast BRCA1/2 test (nanopore test) with no communication of results to the patient at 1-2 weeks.

Other: Questionnaires

Experimental arm

Analysis carried out using the gold standard with BRCA1/2 results provided in an average of 2 months for the theranostic analysis and 3 months for the "standard" analysis + ultra-rapid BRCA1/2 test (nanopore test) with results communicated to the patient in 1-2 weeks. This communication will be accompanied by the necessary explanations to enable the patient to understand that this is a preliminary result and that only the gold standard will constitute a definitive result.

Other: Questionnaires; Other: Communication of the results of the BRCA1/2 ultra rapid test

Interventions

Questionnaires OTHER

3 questionnaires to allowed to assess satisfaction and acceptance of the nanopore ultrafast test by practitioners and anxiety of results by patients : * STAI-Y (State-Trait Anxiety Inventory) * Patient's Questionnaire * Practitioner's questionnaire

Experimental arm; Standard arm

Communication of the results of the BRCA1/2 ultra rapid test OTHER

Communication of the results of the BRCA1/2 ultra rapid test during a consultation 1 to 2 weeks after the test

Experimental arm

Eligibility Criteria

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

Study Population

Breast cancer with an indication for theranostic BRCA1/2 analysis or diagnostic BRCA1/2 analysis

You may qualify if:

• Age ≥ 18 years
• Indication for oncogenetic consultation with a wide panel test including BRCA1/2 (gold standard) as part of the standard theranostic and diagnostic management of breast cancer.
• The patient agrees to take part in the study, to follow all the study procedures and to complete the questionnaires sent during the consultation or by email.
• Diagnosis of the disease ≤ 6 months
• The patient must be affiliated to the social security system.

You may not qualify if:

• Concomitant disorder or condition likely to compromise understanding of study information or completion of questionnaires
• Patients who do not have an email address and/or do not have internet access or tools to connect to the internet
• Women who are pregnant, may become pregnant or are breast-feeding
• Persons deprived of their liberty or under guardianship (including curatorship)
• Inability to undergo trial monitoring for geographical, social or psychological reasons.

Sponsors & Collaborators

• Centre Georges Francois Leclerc: lead

Study Sites (2)

Centre Georges-François Leclerc

Dijon, 21000, France

RECRUITING

Institut Rafaël

Levallois-Perret, 92300, France

RECRUITING

MeSH Terms

Conditions

Breast Neoplasms

Interventions

Surveys and Questionnaires

Condition Hierarchy (Ancestors)

Neoplasms by Site; Neoplasms; Breast Diseases; Skin Diseases; Skin and Connective Tissue Diseases

Intervention Hierarchy (Ancestors)

Data Collection; Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Central Study Contacts

Manon REDA, Dr

CONTACT

03.80.73.75.00; mreda@cgfl.fr

Emilie REDERSTORFF, Project Manager

CONTACT

03 45 34 81 16; erederstorff@cgfl.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 20, 2023
• First Posted: November 1, 2023
• Study Start: June 12, 2024
• Primary Completion (Estimated): September 12, 2026
• Study Completion (Estimated): September 12, 2026
• Last Updated: April 22, 2025

Record last verified: 2025-04

Data Sharing

• IPD Sharing: Will not share

Locations

FR (2)