Investigating How Childhood Tumours and Congenital Disease Develop

NCT06584877 | Enrolling By Invitation

• 1 other identifier: 207523
• Study Type: observational
• Target: 600
• Locations: 1 country
• Sites: 1

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.

Conditions

Childhood Tumor; Congenital Disorders

Outcome Measures

Primary Outcomes (1)

• Description of the genetic mutations of each tumour and congenital anomaly.

  For each tumour a catalogue of mutations will be derived from sequencing reads. The catalogues will be compared across tumour types / anomalies to identify the mutations that drive individual tumour types / anomalies. The life history of each tumour / anomaly will be determined. Methylation data will be analysed to derive a methylation profile for each tumour. The profiles of individual tumours will then be compared with each other to see whether tumour-type specific methylation profiles exist.

  9.5 years

Study Arms (2)

Research participant with tumour or congenital condition

The participant identified to have a tumour or congenital condition (a condition from birth) that is likely to be due to errors of the genetic code (DNA).

Other: sample collection; Other: Seeking consent and assent

Relatives

parents, siblings or close relatives of the participant with the tumour or congenital condition.

Other: sample collection; Other: Seeking consent and assent

Interventions

sample collection OTHER

Surplus material from surgery. New or stored blood or saliva. Semen (from adult males).

Relatives; Research participant with tumour or congenital condition

Seeking consent and assent OTHER

Consent or assent from all participants to be included in the study. Consent from parent / guardian for inclusion of children in study (as primary participant or relative/sibling, as applicable).

Relatives; Research participant with tumour or congenital condition

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Participants will have either a tumour or congenital anomaly. The investigators aim to also recruit the participant's biological parents. In some cases, the participant's sibling(s) and close relatives may also be recruited into the study. Where post-mortem material will be accessed, the participant will have been enrolled in the study whilst alive. Potential participants will be identified by participating NHS clinicians on an ongoing basis and from registers of patients internal to each participating NHS unit. Surplus samples will be identified by participating NHS clinicians. Some samples may also be obtained through Biobanks.

You may qualify if:

• Presence of childhood tumour / congenital disease, or relative of participant with childhood tumour / congenital disease
• Sufficient \'surplus to diagnostic/clinical use\' tissue is available
• Child assent and parental/guardian consent obtained where applicable

You may not qualify if:

• Insufficient surplus tissue is available

Sponsors & Collaborators

• The Wellcome Sanger Institute: lead

Study Sites (1)

Wellcome Sanger Institute

Cambridge, United Kingdom

Location

Biospecimen

Retention: SAMPLES WITH DNA

Surplus tumour/tissue, adjacent normal tissue and bone marrow. New or stored blood or saliva samples. Semen (from adult males).

MeSH Terms

Conditions

Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Interventions

Specimen Handling

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques

Study Officials

• Sam Behjati, PhD

  The Wellcome Sanger Institute

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 4, 2024
• First Posted: September 5, 2024
• Study Start: February 2, 2017
• Primary Completion: February 28, 2026
• Study Completion: February 28, 2026
• Last Updated: September 5, 2024

Record last verified: 2024-07

Data Sharing

• IPD Sharing: Will not share

Locations

GB (1)