Exome Analysis (Complexe vs Simple) to Help the Therapeutic Decision for the Precision Medicine

Official title

A Multicenter, Prospective, Multi-organ Study to Evaluate the Clinical Benefit of an Exome "Complex" Analysis Versus an Exome "Simple" Analysis to Help the Therapeutic Decision for the Precision Medicine

Overview

The "simple" analysis of the exome can determine somatic and constitutional mutations. The major challenge lies in the translation of sequencing data into clinically relevant information allowing the clinician to guide his decision-making A "complex" analysis of the exome would provide access to structural DNA data, concerning mutational signatures, tumor mutational load, analysis of large deletions, loss of heterozygosity as well as amplification of certain genes which may have an impact on the management of patients. No data available to date makes it possible to assess the clinical interest of the availability of its additional information resulting from a "complex" analysis compared to a "simple" analysis. The objective of the EXOMA2 study is to assess the proportion of patients for whom the proposed therapy is derived from its additional information (complex analysis) and would not have been possible with a classic exome analysis (simple analysis) . We hereby formulate the hypothesis that a "complex" analysis on a population presenting a metastatic or locally advanced disease treated early (from the 1st line of treatment) will make it possible to determine therapeutic indications which could not be discovered with a "simple" analysis.

Interventions

• Genetic Exome analysis
  Exome analysis of tumor DNA and constitutional DNA in patients included in 1st line treatment

Primary outcome measures

• proportion of patients for whom therapy was initiated from informations of the "complex" exome analysis [Time frame: inclusion]

Eligibility criteria

Inclusion criteria

• Age ≥ 18 years old
• Weight> 30 Kg
• Histological or cytological evidence of the diagnosis of a metastatic or locally advanced solid tumor
• Patient in 1st line of treatment for metastatic or locally advanced disease
• Tumor material available in sufficient and usable quantity for the analyzes required by the study
• Request for exome analysis to be carried out when initiating the 1st or 2nd line of treatment (line initiated at the time of inclusion)
• Life expectancy estimated to be probably ≥ 6 months.
• WHO ≤ 1
• Patient capable and willing to follow all study procedures in accordance with the protocol
• Patient having understood the purpose, risks and constraints of the study and having signed and dated the consent form
• Patient affiliated to the social security scheme.

Exclusion criteria

• Tumor material not available or biopsy not possible.
• Inability to take a blood test.
• Refusal of genetic analysis.
• Patient likely to progress within 3 months of inclusion in the study.
• History of HIV / HBV / HCV infection.
• Patient already included in the EXOMA or EXOMA2 study.
• Woman who is pregnant, may be, or is breastfeeding.
• Persons deprived of their liberty or under guardianship (including curatorship).

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Allocation

Non-randomized

Model

Parallel assignment

Masking

Open label

Primary purpose

Diagnostic

Study locations

France · 12 centers

• CHU Amiens Picardie — Amiens
• CHRU Jean Minjoz — Besançon
• Institut Bergonie — Bordeaux
• Centre Henri Baclesse — Caen
• CGFL — Dijon
• CHU François Mitterrand — Dijon
• Institut Hospitalier Franco-Britannique — Levallois-Perret
• Centre Oscar Lambret — Lille
• … and 4 more centers

Identifiers

NCT: NCT04614480 · 2019-A02135-52

Primary sources (government registries)

• ClinicalTrials.gov (US NIH)

View this study on ClinicalTrials.gov ↗