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

NCT ID: NCT03622333

Last Updated: 2018-08-20

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Clinical Phase

NA

Total Enrollment

60 participants

Study Classification

INTERVENTIONAL

Study Start Date

2018-05-28

Study Completion Date

2022-11-28

Brief Summary

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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.

Detailed Description

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Conditions

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Small Intestinal Carcinoid Tumors

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

BASIC_SCIENCE

Blinding Strategy

NONE

Study Groups

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Familial Carcinoid Tumors

All patients with proven Familial Carcinoid Tumors

Group Type EXPERIMENTAL

Research of constitutional genetic alterations

Intervention Type GENETIC

Tumor DNA extraction Blood sample and constitutional DNA extraction CGH-array, Exome sequencing Bio-informatic analysis

Interventions

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Research of constitutional genetic alterations

Tumor DNA extraction Blood sample and constitutional DNA extraction CGH-array, Exome sequencing Bio-informatic analysis

Intervention Type GENETIC

Eligibility Criteria

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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)

Exclusion Criteria

* Subjects unable to provide consent
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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CHU de Reims

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Damien JOLLY

Reims, , France

Site Status RECRUITING

Countries

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France

Central Contacts

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Guillaume CADIOT

Role: CONTACT

03 26 78 84 41

Louis DE MESTIER

Role: CONTACT

Facility Contacts

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Guillaume CADIOT

Role: primary

03 26 78 84 41

Other Identifiers

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PO18020

Identifier Type: -

Identifier Source: org_study_id

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