Clinic, Pathologic and Genetic Characterization of Patients With Familial Carcinoid Tumors (Study From the GTE, Groupe d'étude Des Tumeurs Endocrines)

August 17, 2018 updated by: CHU de Reims

Small intestine carcinoid tumors are rare. Small intestine Familial Carcinoid Tumors (FCT) are defined by the occurrence of at least 2 cases of this tumor type in first- or second-degree relatives. The estimated prevalence of FCT is 2.6%-3.7% in patients with small intestine carcinoid tumors. Because of its rarity, epidemiologic, clinic and pathologic features of FCT have been scarcely described. Molecular abnormalities associated with FCT have been poorly explored. Constitutional genetic factors predisposing to FCT have not been discovered to date. Only one abnormality (mutation of the IPMK gene) has been reported in one FCT family only, but not found in other series.

The main objective of this study is to identify the constitutional factors predisposing to small-intestine FCT (and other midgut localizations: ascending colon and appendix). The secondary objectives are to describe the clinic and pathologic features associated with FCT.

Study Overview

Status

Unknown

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Anticipated)

60

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

inclusion criteria :

  • Small-intestine (or ascending colon or appendix) neuroendocrine tumor (proven histologically)
  • At least one first- or second-degree relative with a small-intestine (or ascending colon or appendix) neuroendocrine tumor (proven histologically)
  • Agreement to participate to the study exclusion criteria :
  • Subjects unable to provide consent

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Basic Science
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: Familial Carcinoid Tumors
All patients with proven Familial Carcinoid Tumors
Genetic: Research of constitutional genetic alterations
Tumor DNA extraction Blood sample and constitutional DNA extraction CGH-array, Exome sequencing Bio-informatic analysis

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Deletion
Time Frame: day 0
Quantitative Constitutional genetic alterations detected by comparative genomic hybridization (CGH array)
day 0
duplication
Time Frame: Day 0
Quantitative Constitutional genetic alterations detected by comparative genomic hybridization (CGH array)
Day 0
amplification
Time Frame: Day 0
Quantitative Constitutional genetic alterations detected by comparative genomic hybridization (CGH array)
Day 0
mutation
Time Frame: Day 0
qualitative Constitutional genetic alterations detected by NGS (Next Generation Sequencing)
Day 0

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

CHU de Reims

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

May 28, 2018

Primary Completion (Anticipated)

May 28, 2022

Study Completion (Anticipated)

November 28, 2022

Study Registration Dates

First Submitted

February 22, 2018

First Submitted That Met QC Criteria

August 7, 2018

First Posted (Actual)

August 9, 2018

Study Record Updates

Last Update Posted (Actual)

August 20, 2018

Last Update Submitted That Met QC Criteria

August 17, 2018

Last Verified

February 1, 2018

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • PO18020

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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