Ignite Creation Date:
2024-05-06 @ 11:15 AM
Last Modification Date:
2024-10-26 @ 12:42 PM
Study NCT ID:
NCT03472807
Status:
RECRUITING
Last Update Posted:
2023-11-13
First Post:
2018-01-29
Brief Title:
EXOme Rare Cancers in Children EXOCARE
Sponsor:
University Hospital Angers
Organization:
University Hospital Angers
Study Overview
Official Title:
An Investigation of Susceptibility Genes for Rare Cancers in Children by Exome Sequencing
Status:
RECRUITING
Status Verified Date:
2023-11
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
EXOCARE
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 eg P53 protein P53 Neurofibromatosis type 1NF1 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 lEnfant et de lAdolescent 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
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 lEnfant et de lAdolescent 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
1 Describe inherited predisposition to cancer
2 Improve genetic counselling processes
3 Initiate clinical exome sequencing in childhood cancer treatment
-Secondary objectives
1 Describe inherited predisposition to cancer
2 Improve genetic counselling processes
3 Initiate clinical exome sequencing in childhood cancer treatment
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None