EXOme Rare Cancers in Children (EXOCARE)

NCT ID: NCT03472807

Last Updated: 2025-03-17

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

TERMINATED

Clinical Phase

NA

Total Enrollment

169 participants

Study Classification

INTERVENTIONAL

Study Start Date

2019-11-13

Study Completion Date

2024-02-22

Brief Summary

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Other than high-dose radiation and previous chemotherapy, few strong risk factors have been identified as causes of childhood cancer. Geneticists estimate that 5 to 10% of all cancers diagnosed during the paediatric period occur in children born with a genetic mutation, increasing their lifetime risk of neoplasia. Such genetic risk is higher in children with congenital anomalies and specific genetic syndromes. Some germline genetic alterations are well known (e.g. P53 protein (P53), Neurofibromatosis type 1(NF1)), however many children with none of these mutations have clinical presentations that strongly suggest the involvement of a genetic predisposition. Comprehensive genetic testing for all such patients is an important factor for improving disease surveillance. Such opportunities are now available thanks to whole exome sequencing (WES). In oncology, an important clinical application of WES will be to routinely identify mutations associated with inherited cancer predispositions and to guide cancer risk-management decisions.

Our project is a national translational multicenter genetics study aimed at identifying genes involved in paediatric cancer predisposition by WES in a very select population of children with both developmental delay and cancer. Our project relies on the TED register (Tumeur Et Développement), an initiative by the French organisation SFCE (Société Française de lutte contre les Cancers et les leucémies de l'Enfant et de l'Adolescent) involving 30 child cancer units in France. This database includes the information of more than 500 paediatric cancer patients with congenital abnormalities. The investigators plan to sequence the germline and tumour exome of 100 patients with developmental delay in a trio-design consisting of 300 people and 100 tumours.

The investigators believe that the ExoCaRe project will provide answers to the genetic origins of certain particular childhood cancers. The ExoCaRe project relies on a genetic study to identify genetic risk factors for rare forms of childhood cancer and aims to establish more personalised treatment. It is aimed at improving genetic counselling for families and will be fully integrated in the genetic counselling process. The information provided by our study will be used to improve the management approach to an initial cancer by clarifying the risks of other cancers in related families. The investigators hope to identify new germline genes predisposing to cancer that will be of interest in understanding tumour biology.

Detailed Description

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-Primary objective : Our aim is to identify new mutations and genes involved in paediatric cancer predisposition associating developmental delay by WES of a sub-cohort of patients included in the TED database.

-Secondary objectives :

1. Describe inherited predisposition to cancer.
2. Improve genetic counselling processes.
3. Initiate clinical exome sequencing in childhood cancer treatment.

Conditions

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Predisposition, Genetic Cancer Childhood Development Delay

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

FACTORIAL

prospective multicenter study, not therapeutic,
Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Study Groups

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Cancer patient

* Collection of blood sample or saliva
* Collection of a tumor sample taken before the participation of the patient in study
* Collection of blood sample if tumor sample is not available

Group Type OTHER

Collection of blood sample or saliva

Intervention Type OTHER

at Inclusion

Collection of a tumor sample taken before the participation of the patient in study

Intervention Type OTHER

at Inclusion

Collection of blood sample if tumor sample is not available

Intervention Type OTHER

at Inclusion

Parent of cancer patient

-Collection of blood sample or saliva

Group Type OTHER

Collection of blood sample or saliva

Intervention Type OTHER

at Inclusion

Interventions

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Collection of blood sample or saliva

at Inclusion

Intervention Type OTHER

Collection of a tumor sample taken before the participation of the patient in study

at Inclusion

Intervention Type OTHER

Collection of blood sample if tumor sample is not available

at Inclusion

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* For "Patient cancer" :

* Child having developed a cancer combined with a delay of development and\\or an intellectual deficiency before the age of 18 years and followed for a cancer of the child in one of hospital center of the Société Française de lutte contre les Cancers et les leucémies de l'Enfant et de l'adolescent (SFCE)
* At least a parent still alive and available to make genetic analyses
* For "Parent of cancer patient" :

* Parent whose child meets the criteria of inclusion of "Cancer patient"

Exclusion Criteria

* For "Cancer patient" :

* Genetic predisposition already identified at the child
* Absence of histological confirmation
* Child died without DNA of the available germinal lineage
* For "Parent of cancer patient" :

* Parent whose child doesn't meets the criteria of inclusion of "Cancer patient"
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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University Hospital, Angers

OTHER_GOV

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Isabelle PELLIER, Pr

Role: PRINCIPAL_INVESTIGATOR

UH Angers

Locations

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University Hospital of Amiens

Amiens, , France

Site Status

University Hospital of Angers

Angers, , France

Site Status

Cancer Center Bergonie Institut

Bordeaux, , France

Site Status

University Hospital of Bordeaux

Bordeaux, , France

Site Status

University Hospital of Brest

Brest, , France

Site Status

University Hospital of Clermont Ferrand

Clermont-Ferrand, , France

Site Status

University Hospital of Dijon

Dijon, , France

Site Status

University Hospital of Grenoble

Grenoble, , France

Site Status

University Hospital of Lille

Lille, , France

Site Status

University Hospital of Limoges

Limoges, , France

Site Status

Institut of Haematology and Paediatric Oncology of Lyon

Lyon, , France

Site Status

University Hospital of Marseille

Marseille, , France

Site Status

University Hospital of Montpellier

Montpellier, , France

Site Status

University Hospital of Nancy

Nancy, , France

Site Status

University Hospital of Nantes

Nantes, , France

Site Status

University Hospital of Nice

Nice, , France

Site Status

Institut Curie

Paris, , France

Site Status

University Hospital of Kremlin Bicetre

Paris, , France

Site Status

University Hospital of Necker

Paris, , France

Site Status

University Hospital of Trousseau

Paris, , France

Site Status

University Hospital of Rennes

Rennes, , France

Site Status

University Hospital of Rouen

Rouen, , France

Site Status

University Hospital of Saint Etienne

Saint-Etienne, , France

Site Status

University Hospital of Strasbourg

Strasbourg, , France

Site Status

University Hospital of Tours

Tours, , France

Site Status

Institut Gustave Roussy

Villejuif, , France

Site Status

University Hospital of Saint Denis de La Reunion

Saint-Denis, , Reunion

Site Status

Countries

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France Reunion

Other Identifiers

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2017-A01833-50

Identifier Type: -

Identifier Source: org_study_id

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