Childhood TumorNCT06584877
Investigating How Childhood Tumours and Congenital Disease Develop
An observational study of Childhood Tumor and Congenital Disorders, run by The Wellcome Sanger Institute at 1 site in United Kingdom.
Trial 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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Childhood Tumor, Congenital Disorders
- What is being tested?
- sample collection and Seeking consent and assent
- How many people
- 600 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- 2 Feb 2017to 28 Feb 2026
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
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.
Who may be able to join
- 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
Who cannot join
- Insufficient surplus tissue is available
Trial locations and contacts
1 site in 1 country.
About this study
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.
Read the 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 patient's 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.
- Conditions
- Childhood Tumor, Congenital Disorders
- Being tested
- sample collection, Seeking consent and assent
- Medical subject headings
- Neoplasms, Congenital, Hereditary, and Neonatal Diseases and Abnormalities
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
sample collectionOther
Surplus material from surgery. New or stored blood or saliva. Semen (from adult males).
Seeking consent and assentOther
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).
| Study group | Role | What they receive |
|---|---|---|
| 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). Receives: Other: sample collection; Other: Seeking consent and assent | |
| Relatives | parents, siblings or close relatives of the participant with the tumour or congenital condition. Receives: Other: sample collection; Other: Seeking consent and assent |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 9.5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Sep 2024
- Study start2 Feb 2017
- Primary completion28 Feb 2026 (estimated)
- Study completion28 Feb 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Childhood TumorStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Other
- Enrolment
- 600 participants (estimated)
Sponsor and investigators
- Lead sponsor
- The Wellcome Sanger Institute
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Sam Behjati, PhD, Principal investigator, The Wellcome Sanger Institute
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06584877
- Sponsor's protocol ID
- 207523
- Status last verified
- Jul 2024
- First submitted
- 4 Jul 2024
- Last updated
- 5 Sep 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: As is customary in the field, we will publish our anonymised data in research databases and archives. This includes EGA (European Genome-phenome Archive) where data will be made accessible via managed access to researchers or companies worldwide.
Study at a glance
From the registry record, last updated by the sponsor on 5 Sep 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Investigating How Childhood Tumours and Congenital Disease Develop
- ClinicalTrials.gov ID
- NCT06584877
- Acronym / sponsor ID
- 207523
- Conditions
- Childhood Tumor, Congenital Disorders
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 600 participants (estimated)
- Lead sponsor
- The Wellcome Sanger InstituteUniversity, hospital or other
- Study start
- 2 Feb 2017 (actual)
- Primary completion
- 28 Feb 2026 (estimated)
- Study completion
- 28 Feb 2026 (estimated)
- First posted
- 5 Sep 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 patient's 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 design
- Observational model
- Family based
- Time perspective
- Other
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Research participant with tumour or congenital condition | – | Other: sample collection, Other: Seeking consent and assentThe 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). |
| Relatives | – | Other: sample collection, Other: Seeking consent and assentparents, siblings or close relatives of the participant with the tumour or congenital condition. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (1 listed)
- Insufficient surplus tissue is available
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| sample collectionSurplus material from surgery. New or stored blood or saliva. Semen (from adult males). | Other | Relatives, Research participant with tumour or congenital condition |
| Seeking consent and assentConsent 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). | Other | Relatives, Research participant with tumour or congenital condition |
Primary outcome
Description of the genetic mutations of each tumour and congenital anomaly.
Time frame: 9.5 years
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.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Sep 2024.
- Individual participant dataSharing planned: No. As is customary in the field, we will publish our anonymised data in research databases and archives. This includes EGA (European Genome-phenome Archive) where data will be made accessible via managed access to researchers or companies worldwide.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Sam Behjati, PhD principal investigator
The Wellcome Sanger Institute
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Childhood Tumor and Congenital Disorders, run by The Wellcome Sanger Institute at 1 site in United Kingdom.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 5 Sep 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Description of the genetic mutations of each tumour and congenital anomaly. (time frame: 9.5 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Sep 2024.