Genetic and Molecular Characterization of Nervous System Lesions

NCT06314607 | Recruiting

• 1 other identifier: APHP220498
• Study Type: observational
• Target: 10,000
• Locations: 1 country
• Sites: 3

Brief Summary

Primary and secondary brain tumors, the leading cause of death from cancer before the age of 35, represent a complex and heterogeneous group of pathologies with a generally poor prognosis. Knowledge of these tumors has made enormous strides thanks to access to biological samples, leading to a much more robust, reliable and precise histo-pronostic classification, but also, increasingly, to the identification of theranostic targets. Despite these advances, there is a real need to refine diagnostic and prognostic classification, identify the biological mechanisms involved in the formation and progression of these pathologies, develop new targeted strategies, and devise minimally invasive follow-up methods (liquid biopsies). In addition, certain non-tumoral brain lesions (e.g. malformations) can be similarly classified according to their molecular and mutational profile. This project aims to make a decisive contribution to these objectives.

Conditions

Brain Tumor; Brain Lesion (General)

Keywords

Brain tumor; Cerebral Lesions

Outcome Measures

Primary Outcomes (3)

• Study the clinical markers with the evolution of brain lesions.

  Study of patients' disease-related data in their medical records

  10 years

• Study the biological markers with the evolution of brain lesions.

  Study blood, saliva, urine, stool and CSF samples

  10 years

• Study the anatomopathological markers with the evolution of brain lesions.

  Study of cerebral lesion tissues

  10 years

Study Arms (3)

Group 1

Patients already included in the first ONCONEUROTEK (retrospective) study and followed up in the participating center : at their next hospitalization or consultation at Pitié Salpêtrière, they will be given an information note and a consent form (NIFC) informing them of the ONCONEUROTEK 2 study. (This population concerns all patients in the relevant departments with a last news date \< 2 years)

Genetic: Prospective Biological Collection; Genetic: Retrospective Biological Collection

Group 2

Patients included prospectively : Patients who may be included in this study will be informed of its objectives and procedures by the doctor in charge of their follow-up, during a consultation visit or routine hospitalization, by means of an information note. (This population concerns around 1,000 patients per year, i.e. around 10,000 patients over 10 years)

Genetic: Prospective Biological Collection; Genetic: Retrospective Biological Collection

Group 3

This group concerns patients already included in the ONCONEUROTEK study (retrospective) but not currently being followed at the Pitié Salpêtrière hospital. Specifically, patients who are known to the investigators to still be alive. In this case, an information note and a non-opposition form (NINO) will be sent to them by mail to : * inform them of the regulatory update under the Loi Jardé and the RGPD * and collect their non-opposition to the re-use of their data and samples. * If no reply is received within one month, the patient will be deemed not to have objected to the re-use of his or her data and samples in the ONCONEUROTEK 2 study. (This population concerns all patients in the relevant departments with a last news date \> 2 years)

Genetic: Retrospective Biological Collection

Interventions

Prospective Biological Collection GENETIC

All samples that can be collected at each visit : * Saliva sampling (added by the research) * Collection of 2 to 4 additional tubes of blood (maximum 56mL) (added by the research if blood sampling in routine care) * Urine and stool samples (added by the research) * CSF sample residues (added by the research if lumbar punction in routine care) * Lesion sample residues and surgical waste fragments (added by the research if surgery in routine care)

Group 1; Group 2

Retrospective Biological Collection GENETIC

Requalification of all biological samples obtained as part of ONCONEUROTEK research, with patient consent (blood, saliva, urine, Stool, CSF, lesion sample and surgical waste fragments)

Group 1; Group 2; Group 3

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

Adult patients with brain lesions, including pregnant women (e.g. tumors: patient with glioma, but also with primary brain lymphoma, meningioma, or primary brain tumor of a rare subtype, secondary tumor).

You may qualify if:

• Any patient operated on for a brain lesion (e.g. tumors: glioma, LCPSNC, meningioma, or rare tumor) and/or followed up for one of these pathologies.
• Age ≥ 18 years
• Consent or non-opposition of the patient or his/her legal representative (guardian) to participate in the study.

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (3)

Service de Neurochirurgie - Hôpital de la Pitié Salpêtrière

Paris, 75013, France

RECRUITING

Service de Neurologie 2 -Hôpital de la Pitié Salpêtrière

Paris, 75013, France

RECRUITING

Service de Radiothérapie - Hôpital de la Pittié Salpêtrière

Paris, 75013, France

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Constitutional DNA analysis covers : * the study of polymorphisms (SNPs) common in the general population, enabling GWAS (Genome Wide Association Studies) but not the detection of genetic anomalies. * analysis of coding sequences (whole exome/genome sequencing), which may be necessary in the following situations: * in order to interpret validly the results obtained by whole exome/genome sequencing of tumor DNA * in cases of suspected genetic predisposition to the development of brain tumors or lesions.

MeSH Terms

Conditions

Brain Neoplasms

Condition Hierarchy (Ancestors)

Central Nervous System Neoplasms; Nervous System Neoplasms; Neoplasms by Site; Neoplasms; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases

Central Study Contacts

Marc Sanson, Prof

CONTACT

01 42 16 03 91; marc.sanson@aphp.fr

Study Design

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

Study Record Dates

• First Submitted: March 11, 2024
• First Posted: March 18, 2024
• Study Start: March 26, 2024
• Primary Completion (Estimated): March 1, 2034
• Study Completion (Estimated): March 1, 2034
• Last Updated: September 4, 2024

Record last verified: 2024-08

Locations

FR (3)