Predisposition, GeneticEXOCARENCT03472807
EXOme Rare Cancers in Children (EXOCARE)
A study testing Collection of blood sample or saliva, Collection of a tumor sample taken before the participation of the patient in study and Collection of blood sample if tumor sample is not available in people with Predisposition, Genetic and Cancer Childhood, run by University Hospital, Angers at 27 sites in 2 countries.
Trial summary
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Predisposition, Genetic, Cancer Childhood, Development Delay
- What is being tested?
- Collection of blood sample or saliva, Collection of a tumor sample taken before the participation of the patient in study and Collection of blood sample if tumor sample is not available
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 169 participants
- Where
- 27 sitesin 2 countries
- Study dates
- 13 Nov 2019to 22 Feb 2024
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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"
Who cannot join
- 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"
Trial locations and contacts
27 sites in 2 countries.
27 sites in 2 countries
France26 sites
University Hospital of Amiens
Amiens
University Hospital of Angers
Angers
Cancer Center Bergonie Institut
Bordeaux
University Hospital of Bordeaux
Bordeaux
University Hospital of Brest
Brest
University Hospital of Clermont Ferrand
Clermont-Ferrand
University Hospital of Dijon
Dijon
University Hospital of Grenoble
Grenoble
University Hospital of Lille
Lille
University Hospital of Limoges
Limoges
Institut of Haematology and Paediatric Oncology of Lyon
Lyon
University Hospital of Marseille
Marseille
University Hospital of Montpellier
Montpellier
University Hospital of Nancy
Nancy
University Hospital of Nantes
Nantes
University Hospital of Nice
Nice
Institut Curie
Paris
University Hospital of Kremlin Bicetre
Paris
University Hospital of Necker
Paris
University Hospital of Trousseau
Paris
University Hospital of Rennes
Rennes
University Hospital of Rouen
Rouen
University Hospital of Saint Etienne
Saint-Etienne
University Hospital of Strasbourg
Strasbourg
University Hospital of Tours
Tours
Institut Gustave Roussy
Villejuif
About this study
Official title: An Investigation of Susceptibility Genes for Rare Cancers in Children by Exome Sequencing
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.
Read the detailed description
-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 :
- Describe inherited predisposition to cancer.
- Improve genetic counselling processes.
- Initiate clinical exome sequencing in childhood cancer treatment.
- Conditions
- Predisposition, Genetic, Cancer Childhood, Development Delay
- Being tested
- 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
- Medical subject headings
- Genetic Predisposition to Disease, Neoplasms, Learning Disabilities
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Collection of blood sample or salivaOther
at Inclusion
Collection of a tumor sample taken before the participation of the patient in studyOther
at Inclusion
Collection of blood sample if tumor sample is not availableOther
at Inclusion
| Study group | Role | What they receive |
|---|---|---|
| Cancer patient | Other | * 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 Receives: Other: Collection of blood sample or saliva; Other: Collection of a tumor sample taken before the participation of the patient in study; Other: Collection of blood sample if tumor sample is not available |
| Parent of cancer patient | Other | -Collection of blood sample or saliva Receives: Other: Collection of blood sample or saliva |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number and type of germline and somatic genetic variants of pathological significance and associated with the disease.
WES and RNA sequence data will be used to identify and characterise germline and somatic genetic variants of pathological significance and associated with the disease.
Descriptive statistics, such as counts and proportions of variants of pathological significance risk will be computed within each patient and family.
Measured: At inclusion
Secondary outcomes (3)
Related to secondary objectives (1) : Identification of biological pathways involved in childhood cancer predisposition.
The deleterious mutations that the investigators will identify in genes related to childhood cancer predisposition will help to have a comprehensive framework of biological pathways involved in childhood cancer predisposition.
Measured: At inclusion
Related to secondary objectives (2) : Overall success rate.
Success is defined by the combined successes of quality interpretable genomic data are generated from sequencing tumor and germline tissues, and communicating genomic test results to the primary oncologist and the patient and his/her parents.
Measured: At inclusion
Related to secondary objectives (3) : Number of clinical criteria justifying a WES.
Descriptive statistics, such as counts and proportions of success by clinical presentation of the disease, by cancer types, by features of developmental delay, and, by class of age.
Measured: At inclusion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Mar 2018
- Study start13 Nov 2019
- Primary completion22 Feb 2024
- Study completion22 Feb 2024
Why it stopped: Inclusions stopped due to lack of inclusions
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Predisposition, GeneticStudies of the same condition, open and under way.
- More trials run by University Hospital, AngersThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Factorial
- Model description
- prospective multicenter study, not therapeutic,
- Masking
- None (open label)
- Enrolment
- 169 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Angers
- Sponsor type
- Other government
- Responsible party
- Sponsor
- Investigators
- Isabelle PELLIER, Pr, Principal investigator, UH Angers
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03472807
- Sponsor's protocol ID
- 2017-A01833-50
- Acronym
- EXOCARE
- Status last verified
- Mar 2025
- First submitted
- 29 Jan 2018
- Last updated
- 17 Mar 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 17 Mar 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Investigation of Susceptibility Genes for Rare Cancers in Children by Exome Sequencing
- ClinicalTrials.gov ID
- NCT03472807
- Acronym / sponsor ID
- EXOCARE / 2017-A01833-50
- Conditions
- Predisposition, Genetic, Cancer Childhood, Development Delay
- Study type
- Interventional
- Recruitment status
- TerminatedReason stopped: Inclusions stopped due to lack of inclusions
- Enrolment
- 169 participants (actual)
- Lead sponsor
- University Hospital, AngersOther government
- Study start
- 13 Nov 2019 (actual)
- Primary completion
- 22 Feb 2024 (actual)
- Study completion
- 22 Feb 2024 (actual)
- First posted
- 21 Mar 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
-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 :
- Describe inherited predisposition to cancer.
- Improve genetic counselling processes.
- Initiate clinical exome sequencing in childhood cancer treatment.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Factorial
- Masking
- None (open label)
- Number of arms
- 2
- Model description
- prospective multicenter study, not therapeutic,
| Arm | Type | Receives |
|---|---|---|
| Cancer patient | Other | Other: Collection of blood sample or saliva, Other: Collection of a tumor sample taken before the participation of the patient in study, Other: Collection of blood sample if tumor sample is not available* 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 |
| Parent of cancer patient | Other | Other: Collection of blood sample or saliva-Collection of blood sample or saliva |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (5 listed)
- For "Patient cancer" :
- For "Parent of cancer patient" :
Key exclusion criteria (6 listed)
- For "Cancer patient" :
- For "Parent of cancer patient" :
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Collection of blood sample or salivaat Inclusion | Other | Cancer patient, Parent of cancer patient |
| Collection of a tumor sample taken before the participation of the patient in studyat Inclusion | Other | Cancer patient |
| Collection of blood sample if tumor sample is not availableat Inclusion | Other | Cancer patient |
Primary outcome
Number and type of germline and somatic genetic variants of pathological significance and associated with the disease.
Time frame: At inclusion
WES and RNA sequence data will be used to identify and characterise germline and somatic genetic variants of pathological significance and associated with the disease. Descriptive statistics, such as counts and proportions of variants of pathological significance risk will be computed within each patient and family.
3 secondary outcomes
Related to secondary objectives (1) : Identification of biological pathways involved in childhood cancer predisposition.
Time frame: At inclusion
Related to secondary objectives (2) : Overall success rate.
Time frame: At inclusion
Related to secondary objectives (3) : Number of clinical criteria justifying a WES.
Time frame: At inclusion
Results and safety
The study was stopped early (reason given: Inclusions stopped due to lack of inclusions). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Mar 2025.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Isabelle PELLIER, Pr principal investigator
UH Angers
27 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Collection of blood sample or saliva, Collection of a tumor sample taken before the participation of the patient in study and Collection of blood sample if tumor sample is not available in people with Predisposition, Genetic and Cancer Childhood, run by University Hospital, Angers at 27 sites in 2 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 17 Mar 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 27 sites in France, Reunion. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early (reason given: Inclusions stopped due to lack of inclusions). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number and type of germline and somatic genetic variants of pathological significance and associated with the disease. (time frame: At inclusion). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 17 Mar 2025.