Ignite Creation Date:
2024-10-26 @ 3:39 PM
Last Modification Date:
2024-10-26 @ 3:39 PM
Study NCT ID:
NCT06584994
Status:
ENROLLING_BY_INVITATION
Last Update Posted:
None
First Post:
2024-07-04
Brief Title:
Investigating the Role of Genetics in Disease Predisposition
Sponsor:
None
Organization:
None
Study Overview
Official Title:
Investigating Clonal Dynamics in Gonads and Their Role in Disease Predisposition
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:
Gametogenesis is the production of sperm and eggs it takes place through the process of meiosis Gametogenesis is subject to the acquisition of mutations as with other processes in the body Many of these mutations are somatic meaning that they occur during life as part of the process of cell division rather than being passed down from parents When somatic mutations take place during gametogenesis there is the potential for hereditary genetic consequences However the processes that cause the mutations during gametogenesis and the implications they have for heritability and disease predisposition are poorly understood
The goal of this research is to provide a detailed description of the genetic changes in gonadal tissues and to understand how mutations acquired during the production of germ cells sperm and eggs contribute to the predisposition to a wide range of rare diseases and cancer predisposition in future offspring
The goal of this research is to provide a detailed description of the genetic changes in gonadal tissues and to understand how mutations acquired during the production of germ cells sperm and eggs contribute to the predisposition to a wide range of rare diseases and cancer predisposition in future offspring
Detailed Description:
Predisposition to rare disorders and cancers can arise due to mutations changes in DNA of sperm cells from father andor eggs from mother De novo mutations are genetic alterations that are present for the first time in one family member as a result of a variant or mutation in a germ cell egg or sperm of one of the parents or a variant that arises in the fertilized egg itself during early embryogenesis
Current knowledge about how changes in the sperm and eggs of parents can be inherited by children is based on genetic sequence analysis of blood from nuclear families This involved comparison of the changes in DNA of children with that of their parents Changes that are not present in the blood of parents are likely to have occurred in the sperm and egg of the father and mother
Whilst studying the nuclear family is very useful in order to look at the level of diversity it will only allow the investigators to study a small number of germ cells making it difficult to ascertain the overall level of diversity that is shown in the sperm and eggs of fathers and mothers There is also little knowledge of how different factors such as ageing smoking BMI and exposure to carcinogens might affect the germ cells of adults and since changes in sperm and eggs can be transmitted to children it is important to understand how disease causing mutations arise in reproductive tissues Thus how such changes can predispose children to rare disorders and cancer predisposition syndromes
Previous studies have shown that the FGFR3 gene accumulates more mutations in normal testes during the natural ageing process which leads to the relative enrichment of mutated sperm over time In rare cases it can lead to testicular cancer spermatocytic seminomas in older men but also it increases the likelihood of having children with Achondroplasia which is caused by mutations in the FGFR3 gene in the sperm of the father
Hence the investigators aim is to determine the effect of different factors on the recurrence risk of pathogenic disease causing mutations in eggs and sperm
Current knowledge about how changes in the sperm and eggs of parents can be inherited by children is based on genetic sequence analysis of blood from nuclear families This involved comparison of the changes in DNA of children with that of their parents Changes that are not present in the blood of parents are likely to have occurred in the sperm and egg of the father and mother
Whilst studying the nuclear family is very useful in order to look at the level of diversity it will only allow the investigators to study a small number of germ cells making it difficult to ascertain the overall level of diversity that is shown in the sperm and eggs of fathers and mothers There is also little knowledge of how different factors such as ageing smoking BMI and exposure to carcinogens might affect the germ cells of adults and since changes in sperm and eggs can be transmitted to children it is important to understand how disease causing mutations arise in reproductive tissues Thus how such changes can predispose children to rare disorders and cancer predisposition syndromes
Previous studies have shown that the FGFR3 gene accumulates more mutations in normal testes during the natural ageing process which leads to the relative enrichment of mutated sperm over time In rare cases it can lead to testicular cancer spermatocytic seminomas in older men but also it increases the likelihood of having children with Achondroplasia which is caused by mutations in the FGFR3 gene in the sperm of the father
Hence the investigators aim is to determine the effect of different factors on the recurrence risk of pathogenic disease causing mutations in eggs and sperm
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