Clinical trial · Observational
Investigating the Role of Genetics in Disease Predisposition
Investigating Clonal Dynamics in Gonads and Their Role in Disease Predisposition
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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.
Conditions
Conditions (4)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Cancer | Malignant Neoplasm | ALIAS | 0.90 |
| Fertility Disorders | — | UNRESOLVED | — |
| Mutation | — | UNRESOLVED | — |
| Predisposition, Genetic | — | UNRESOLVED | — |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| sample collection | Other | — | UNRESOLVED |
Design
Arms and outcomes
Arms (3)
- label
- Individuals and Families affected by disease predisposition syndromes
- description
- We will work with collaborators to identify cohorts of families in which one or more members suffer with a cancer predisposition syndromes such as LFS. The affected individual/s act as an index participant and their unaffected family members act as controls. This may include immediate family (father, mother and affected/non-affected siblings) and extended family members (grandparents, maternal/paternal uncles and aunts) where practical. We wish to collect blood samples, buccal swabs, skin swabs, saliva and/ or urine samples. Adult males (affected and unaffected) may (cohort dependant) also be asked to collect a semen sample for use in the study. We will ask affected individuals if we can access any leftover tumour biopsies and/or material from medical procedures for use in the study.Material will only be accessed once it is not required for diagnostic purposes.
- interventionNames
- Other: sample collection
- label
- Individuals attending fertility clinics with or without fertility problems
- description
- For males who are attending fertility clinics we will require blood or saliva samples along with a semen sample as a minimum to take part in this arm of the study.
- interventionNames
- Other: sample collection
Eligibility
Eligibility (as posted)
- Sex
- All
Show eligibility criteria text
Inclusion criteria: * Minimum of child affected with cancer pre-disposition syndromes and their father * Additional family members of consented father and child duos (Mother, same parent siblings, Maternal/Paternal Aunts, uncles and grandparents of affected child) * Reproductive tissue samples from both men and women affected by cancer collected with consent for use in research. * Reproductive tissue samples from both men and women unaffected by cancer collected with consent for use in research. Exclusion: * Fathers who do not wish to donate a semen sample or are unable to will be excluded from the study, as will their families * Fathers who have had a vasectomy will be excluded from the study as will their families * Adults who do not have the capacity to consent for themselves will be excluded from the study. * Families in which both parents do not have capacity to consent will also be excluded as they will be unable to give parental consent for their children's participation. * In order to be eligible siblings must share the same two parents as the affected child, all other siblings will be excluded from the study. * Male relatives in the extended family (Maternal/Paternal Aunts, uncles and grandparents of affected child) unwilling or unable to donate both a blood or saliva sample and a semen sample will be excluded from the study. * Participants who do not have a good understanding of the English language will be excluded from the study.
References
Publications (0)
Data not yet available