Actively Recruiting
Led by Sydney Children's Hospitals Network · Updated on 2022-11-04
270
Participants Needed
3
Research Sites
275 weeks
Total Duration
S
Sydney Children's Hospitals Network
Lead Sponsor
C
Children's Cancer Institute Australia
Collaborating Sponsor
Researchers are investigating the usefulness of family-based whole-genome sequencing (WGS) to identify cancer predisposition syndromes (CPS) in children and adolescents newly diagnosed with cancer. These syndromes are caused by inherited mutations in cancer predisposition genes and are linked to a higher risk of developing certain cancers. The study aims to understand how often CPS occurs in this population and the impact of germline sequencing on patients and their families. This is a multicenter prospective observational study focusing on clinical benefits and utility of WGS compared to traditional clinical information. Participants will undergo family-based germline whole-genome sequencing to identify genetic variants related to cancer predisposition. The results will be discussed in multidisciplinary meetings, and referrals to Cancer Genetics Clinics for further evaluation and genetic counseling may be recommended. Additionally, the study includes a psychosocial component to assess how the sequencing process affects patients and their families. The study follows patients for up to five years to analyze psychological impact and cost-effectiveness. During the study, researchers will collect detailed family cancer histories and monitor genetic findings, including inherited and new mutations. The primary outcome measures focus on comparing the detection of CPS by WGS versus clinical factors over two years. Secondary outcomes include mutation types, test turnaround times, surveillance adherence, and psychological effects assessed over five years. Participants will be closely followed to evaluate diagnostic accuracy, genetic counseling outcomes, and the broader impact of sequencing on care and family well-being.
CONDITIONS
Cancer Predisposition Testing by Family-based Whole-genome Sequencing (WGS) in Every Child With Newly Diagnosed Cancer
You may qualify if you...
You will not qualify if you...
History of severe allergic reactions to study medication Currently pregnant or breastfeeding Recent participation in another clinical trial within the last 30 days Presence of uncontrolled medical conditions that could affect safety
Complete this quick 3-step screening to check your eligibility
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 2 years
Participants undergo family-based whole genome sequencing to identify cancer predisposition syndromes and related genetic variants.
1 baseline visit with genetic testing and family history collection
Duration - Up to 5 years
Participants and their families are followed to assess the psychosocial impact of germline sequencing and to monitor clinical outcomes related to cancer predisposition.
Additional visits depending on genetic findings and follow-up needs
Total: 3 locations
1
John Hunter Children's Hospital
Newcastle, New South Wales, Australia, 2305
Actively Recruiting
2
Sydney Children's Hospital
Sydney, New South Wales, Australia, 2031
Actively Recruiting
3
The Children's Hospital at Westmead
Sydney, New South Wales, Australia, 2145
Actively Recruiting
C
Clinical Trials Manager
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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Noemi Auxiliadora Fuentes Bolanos, Bhavna Padhye, Macabe Daley...
https://pubmed.ncbi.nlm.nih.gov/37253493