Sequencing to Identify Gene Variants in Familial Colorect... | NCT01904630

Studies
Sequencing to Identify Gene Variants in Familial Colorectal Cancer

NCT01904630

Sponsor

Norwegian University of Science and Technology

Status

Completed

Last Update Posted

Jul 14, 2016Estimated

Enrollment

14Actual

Phase

Not provided

Conditions

Colorectal Cancer

Interventions

gene sequencing

Countries

Norway

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Jul 2016

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Dec 2012

Primary Completion Date

Jun 2016Actual

Completion Date

Jun 2016Actual

First Submitted Date

Apr 23, 2013

First Submission Date that Met QC Criteria

Jul 17, 2013

First Posted Date

Jul 22, 2013Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jul 13, 2016

Last Update Posted Date

Jul 14, 2016Estimated

Name	Class
St. Olavs Hospital	OTHER

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief 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). 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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

14Actual

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
CRC high risk		Participants belong to a family with increased risk for CRC, will be analyzed with gene sequencing	Genetic: gene sequencing

Interventions

Name	Type	Description	Arm Group Labels	Other Names
gene sequencing	Genetic	Gene sequencing by exome capture and high throughput sequencing for identification of rare variants	CRC high risk

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
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.	Data available within 18 months after recruitment completed

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

Member of a specific family with increased risk of CRC, including individuals both with and without CRC

Exclusion Criteria:

Young age

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

20 Years

Maximum Age

Not provided

Standard Ages

AdultOlder Adult

Study Population

A specific family showing increased risk for CRC

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Finn Drabløs, PhD/Prof	Norwegian University of Science and Technology	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
St Olavs Hospital		Trondheim			Norway

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
25860647	Result	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.

ID	Term
D007414	Intestinal Neoplasms
D005770	Gastrointestinal Neoplasms
D004067	Digestive System Neoplasms
D009371	Neoplasms by Site

ID	Term
D015394	Molecular Structure
D001669	Biochemical Phenomena
D055598	Chemical Phenomena
D040342	Genetic Structures