Colorectal CancerNCT01904630
Sequencing to Identify Gene Variants in Familial Colorectal Cancer
An observational study of Colorectal Cancer, run by Norwegian University of Science and Technology at 1 site in Norway.
Trial summary
The project will use exome sequencing to search for genetic predispositions for familial colorectal cancer (CRC). Except for certain syndromes there is today no good method for identifying individuals with a hereditary high risk for CRC (about 25% of the cases). Read more about this study
- Who is it for?
- Ages 20 years and older
- Conditions the study is for
- Colorectal Cancer
- What is being tested?
- gene sequencing
- How many people
- 14 participants
- Where
- 1 siteNorway
- Study dates
- Dec 2012to Jun 2016
- 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 20 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: A specific family showing increased risk for CRC
Who may be able to join
- Member of a specific family with increased risk of CRC, including individuals both with and without CRC
Who cannot join
- Young age
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Exom-sekvensering for å Identifisere høyrisiko Genvarianter i en Familie Predisponert for Colorectal Cancer
The project will use exome sequencing to search for genetic predispositions for familial colorectal cancer (CRC). Except for certain syndromes there is today no good method for identifying individuals with a hereditary high risk for CRC (about 25% of the cases). There is currently no routine screening of the population in Norway for CRC today. Coloscopy, which is the most reliable method, is demanding with respect to resources, it can be painful, and may have complications. This project will attempt to find genetic determinants for identification of individuals with increased risk for familial CRC. Such methods will reduce unnecessary medical examination of unaffected family members, and will make it easier to focus health services on individuals with increased risk. This will represent a significant contribution towards improved health reduced death rate caused by CRC. The project includes research on the ethical aspects, in particular challenges related to how feedback to donors is handled.
Read the detailed description
Participants will be from a specific family, and will be selected by invitation to volunteer.
- Conditions
- Colorectal Cancer
- Being tested
- gene sequencing
- Keywords
- gene sequencing, familial, risk factors
- Medical subject headings
- Colorectal Neoplasms
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
gene sequencingGenetic
Gene sequencing by exome capture and high throughput sequencing for identification of rare variants
| Study group | Role | What they receive |
|---|---|---|
| CRC high risk | Participants belong to a family with increased risk for CRC, will be analyzed with gene sequencing Receives: Genetic: gene sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Data on association between sequence variants in exons and CRC risk
For each participant the genome will be analyzed by exome capture and high throughput sequencing. The exome data will be compared between participants and to reference data for identification of unique variants that can be associated with disease risk.
Measured: Data available within 18 months after recruitment completed
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Jul 2013 (estimated)
- Study startDec 2012
- Primary completionJun 2016
- Study completionJun 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Colorectal CancerStudies of the same condition, open and under way.
- More trials run by Norwegian University of Science and TechnologyThe sponsor's other registered studies.
- 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
- Cross-sectional
- Enrolment
- 14 participants (actual)
Sponsor and investigators
- Lead sponsor
- Norwegian University of Science and Technology
- Sponsor type
- University, hospital or other
- Collaborators
- St. Olavs Hospital
- Responsible party
- Sponsor
- Investigators
- Finn Drabløs, PhD/Prof, Principal investigator, Norwegian University of Science and Technology
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01904630
- Sponsor's protocol ID
- 2012/1707
- Status last verified
- Jul 2016
- First submitted
- 23 Apr 2013
- Last updated
- 14 Jul 2016
- Results posted
- No
- Data monitoring committee
- No
Publications
Hansen MF, Johansen J, Bjornevoll I, Sylvander AE, Steinsbekk KS, Saetrom P, Sandvik AK, Drablos F, Sjursen W. A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine. Fam Cancer. 2015 Sep;14(3):437-48. doi: 10.1007/s10689-015-9803-2.
PubMed 25860647
Study at a glance
From the registry record, last updated by the sponsor on 14 Jul 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Exom-sekvensering for å Identifisere høyrisiko Genvarianter i en Familie Predisponert for Colorectal Cancer
- ClinicalTrials.gov ID
- NCT01904630
- Acronym / sponsor ID
- 2012/1707
- Conditions
- Colorectal Cancer
- Keywords
- gene sequencing, familial, risk factors
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 14 participants (actual)
- Lead sponsor
- Norwegian University of Science and TechnologyUniversity, hospital or other
- Collaborators
- St. Olavs Hospital
- Study start
- Dec 2012
- Primary completion
- Jun 2016 (actual)
- Study completion
- Jun 2016 (actual)
- First posted
- 22 Jul 2013 (estimated)
- 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.
The project will use exome sequencing to search for genetic predispositions for familial colorectal cancer (CRC). Except for certain syndromes there is today no good method for identifying individuals with a hereditary high risk for CRC (about 25% of the cases). There is currently no routine screening of the population in Norway for CRC today. Coloscopy, which is the most reliable method, is demanding with respect to resources, it can be painful, and may have complications. This project will attempt to find genetic determinants for identification of individuals with increased risk for familial CRC. Such methods will reduce unnecessary medical examination of unaffected family members, and will make it easier to focus health services on individuals with increased risk. This will represent a significant contribution towards improved health reduced death rate caused by CRC. The project includes research on the ethical aspects, in particular challenges related to how feedback to donors is handled.
Detailed description
Participants will be from a specific family, and will be selected by invitation to volunteer.
Study design
- Observational model
- Family based
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| CRC high risk | – | Genetic: gene sequencingParticipants belong to a family with increased risk for CRC, will be analyzed with gene sequencing |
Who may qualify
- Ages
- 20 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- A specific family showing increased risk for CRC
Key inclusion criteria (1 listed)
- Member of a specific family with increased risk of CRC, including individuals both with and without CRC
Key exclusion criteria (1 listed)
- Young age
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 |
|---|---|---|
| gene sequencingGene sequencing by exome capture and high throughput sequencing for identification of rare variants | Genetic | CRC high risk |
Primary outcome
Data on association between sequence variants in exons and CRC risk
Time frame: Data available within 18 months after recruitment completed
For each participant the genome will be analyzed by exome capture and high throughput sequencing. The exome data will be compared between participants and to reference data for identification of unique variants that can be associated with disease risk.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 Jul 2016.
- Results publication: PubMed 25860647Hansen MF, Johansen J, Bjornevoll I, Sylvander AE, Steinsbekk KS, Saetrom P, Sandvik AK, Drablos F, Sjursen W. A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine. Fam Cancer. 2015 Sep;14(3):437-48. doi: 10.1007/s10689-015-9803-2.
Related trials for Colorectal Cancer
Not yet recruitingPhase 1
Hepatic Artery Infusion of Carfilzomib in Participants With Liver Metastatic Disease Previously Treated With Hepatic Artery Infusion Pump Therapy
Colorectal Neoplasms, Neoplasms
Active, not recruiting
Streamlined Geriatric and Oncological Evaluation Based On IC Technology
Breast Cancer, Comorbidities and Coexisting Conditions
RecruitingObservational study
Pre- and On-treatment Multi-omics Profiling of Locally Advanced Rectal Cancer
Rectal Neoplasms
Enrolling by invitationObservational study
Natural History Study of Early Life Exposures in Agriculture (ELEA)
Prostate Cancer, Leukemia
RecruitingPhase 2
Tislelizumab in People With Colorectal Cancer
Colorectal Cancer
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.
Finn Drabløs, PhD/Prof principal investigator
Norwegian University of Science and Technology
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 Colorectal Cancer, run by Norwegian University of Science and Technology at 1 site in Norway.
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 1 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: finished, as of the sponsor's last update on 14 Jul 2016. 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 Norway. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
Data on association between sequence variants in exons and CRC risk (time frame: Data available within 18 months after recruitment completed). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01904630, which also lists 1 linked publication.
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 14 Jul 2016.