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Trial record 17 of 197 for:    Genetic AND exome sequencing

EXOme Rare Cancers in Children (EXOCARE) (EXOCARE)

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ClinicalTrials.gov Identifier: NCT03472807
Recruitment Status : Not yet recruiting
First Posted : March 21, 2018
Last Update Posted : March 21, 2018
Sponsor:
Information provided by (Responsible Party):
University Hospital, Angers

Brief 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. 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.


Condition or disease Intervention/treatment Phase
Predisposition, Genetic Cancer Childhood Development Delay 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 Not Applicable

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 :

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

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 300 participants
Allocation: Non-Randomized
Intervention Model: Factorial Assignment
Intervention Model Description: prospective multicenter study, not therapeutic,
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: An Investigation of Susceptibility Genes for Rare Cancers in Children by Exome Sequencing
Estimated Study Start Date : May 2018
Estimated Primary Completion Date : June 2020
Estimated Study Completion Date : June 2020

Arm Intervention/treatment
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
Other: Collection of blood sample or saliva
at Inclusion

Other: Collection of a tumor sample taken before the participation of the patient in study
at Inclusion

Other: Collection of blood sample if tumor sample is not available
at Inclusion

Parent of cancer patient
-Collection of blood sample or saliva
Other: Collection of blood sample or saliva
at Inclusion




Primary Outcome Measures :
  1. 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.



Secondary Outcome Measures :
  1. Related to secondary objectives (1) : Identification of biological pathways involved in childhood cancer predisposition. [ Time Frame: At inclusion ]
    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.

  2. Related to secondary objectives (2) : Overall success rate. [ Time Frame: At inclusion ]
    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.

  3. Related to secondary objectives (3) : Number of clinical criteria justifying a WES. [ Time Frame: At inclusion ]
    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.



Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

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"

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03472807


Contacts
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Contact: Elsa BERARDI +33 2 41 35 61 79 elberardi@chu-angers.fr

Sponsors and Collaborators
University Hospital, Angers
Investigators
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Principal Investigator: Isabelle PELLIER, Pr UH Angers

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Responsible Party: University Hospital, Angers
ClinicalTrials.gov Identifier: NCT03472807     History of Changes
Other Study ID Numbers: 2017-A01833-50
First Posted: March 21, 2018    Key Record Dates
Last Update Posted: March 21, 2018
Last Verified: March 2018

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:
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Disease Susceptibility
Genetic Predisposition to Disease
Disease Attributes
Pathologic Processes