Ignite Creation Date:
2024-10-25 @ 8:04 PM
Last Modification Date:
2024-10-26 @ 3:39 PM
Study NCT ID:
NCT06584877
Status:
ENROLLING_BY_INVITATION
Last Update Posted:
None
First Post:
2024-07-04
Brief Title:
Investigating How Childhood Tumours and Congenital Disease Develop
Sponsor:
None
Organization:
None
Study Overview
Official Title:
Investigating How Childhood Tumours and Congenital Disease Develop
Status:
ENROLLING_BY_INVITATION
Status Verified Date:
2024-07
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
No
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
Every cell and every organ in the human body derives from a fertilised egg As the fertilised egg divides a human being develops and grows The process of how the fertilised egg divides and forms a human being is very sophisticated and is directed by the genetic information the DNA that is present in every cell
When errors mutations in the DNA code arise the orderly process of human development can be disrupted This can lead to the development of tumours during childhood and congenital diseases that is abnormalities that children are born with
The aim of this study is to define exactly which DNA errors underpin childhood tumours and congenital diseases
When errors mutations in the DNA code arise the orderly process of human development can be disrupted This can lead to the development of tumours during childhood and congenital diseases that is abnormalities that children are born with
The aim of this study is to define exactly which DNA errors underpin childhood tumours and congenital diseases
Detailed Description:
Cancers and some congenital anomalies are caused by changes mutations in the genetic code DNA of cells The use of Next Generation Sequencing NGS has enabled the study of the genetic changes that underpin these diseases genome wide and at base pair resolution
A key question about the molecular pathogenesis of a range of childhood tumours and congenital anomalies that remains unanswered is the order in which the different mutations arise To define the order in which mutations arise the investigators will need to reconstruct the life history of individual tumours anomalies This can be achieved by segregating the major clone ancestral cell from sub-clones or by studying multiple areas from the same lesion Although this approach allows timing of mutations to some degree in childhood tumours and congenital lesions this approach is fundamentally limited by the inability to define embryonic mutations The basis of the limitation is that the lesions in question is conventionally compared to the patients germline the genetic information they have from birth In such a comparison embryonic mutations will be misclassified as either germline or somatic acquired
To overcome this limitation one would have to compare the lesion to the parental germline
Thus here this study proposes to perform the first NGS study of childhood tumours and congenital anomalies focusing on defining the embryonic pathogenesis A unique feature of this study will be that lesions will be compared to the parental germline to define embryonic mutations A focus of the analysis will be to define order in which mutations arise
A key question about the molecular pathogenesis of a range of childhood tumours and congenital anomalies that remains unanswered is the order in which the different mutations arise To define the order in which mutations arise the investigators will need to reconstruct the life history of individual tumours anomalies This can be achieved by segregating the major clone ancestral cell from sub-clones or by studying multiple areas from the same lesion Although this approach allows timing of mutations to some degree in childhood tumours and congenital lesions this approach is fundamentally limited by the inability to define embryonic mutations The basis of the limitation is that the lesions in question is conventionally compared to the patients germline the genetic information they have from birth In such a comparison embryonic mutations will be misclassified as either germline or somatic acquired
To overcome this limitation one would have to compare the lesion to the parental germline
Thus here this study proposes to perform the first NGS study of childhood tumours and congenital anomalies focusing on defining the embryonic pathogenesis A unique feature of this study will be that lesions will be compared to the parental germline to define embryonic mutations A focus of the analysis will be to define order in which mutations arise
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None