Back to resultsClinic, Pathologic and Genetic Characterization of Patients With Familial Carcinoid Tumors (Study From the GTE, Groupe d'étude Des Tumeurs Endocrines)
Primary Purpose
Small Intestinal Carcinoid Tumors
Status
Unknown status
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
Research of constitutional genetic alterations
Sponsored by
About this trial
This is an interventional basic science trial for Small Intestinal Carcinoid Tumors focused on measuring Neuroendocrine tumors, carcinoid tumors, midgut, small intestine, genetic predisposition, hereditary
Eligibility Criteria
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
Sites / Locations
- Damien JOLLYRecruiting
Arms of the Study
Arm 1
Arm Type
Experimental
Arm Label
Familial Carcinoid Tumors
Arm Description
All patients with proven Familial Carcinoid Tumors
Outcomes
Primary Outcome Measures
Deletion
Quantitative Constitutional genetic alterations detected by comparative genomic hybridization (CGH array)
duplication
Quantitative Constitutional genetic alterations detected by comparative genomic hybridization (CGH array)
amplification
Quantitative Constitutional genetic alterations detected by comparative genomic hybridization (CGH array)
mutation
qualitative Constitutional genetic alterations detected by NGS (Next Generation Sequencing)
Secondary Outcome Measures
Full Information
1. Study Identification
Unique Protocol Identification Number
NCT03622333
Brief Title
Clinic, Pathologic and Genetic Characterization of Patients With Familial Carcinoid Tumors (Study From the GTE, Groupe d'étude Des Tumeurs Endocrines)
Official Title
Clinic, Pathologic and Genetic Characterization of Patients With Familial Carcinoid Tumors (Study From the GTE, Groupe d'étude Des Tumeurs Endocrines)
Study Type
Interventional
2. Study Status
Record Verification Date
February 2018
Overall Recruitment Status
Unknown status
Study Start Date
May 28, 2018 (Actual)
Primary Completion Date
May 28, 2022 (Anticipated)
Study Completion Date
November 28, 2022 (Anticipated)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
CHU de Reims
4. Oversight
Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
5. Study Description
Brief Summary
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Small Intestinal Carcinoid Tumors
Keywords
Neuroendocrine tumors, carcinoid tumors, midgut, small intestine, genetic predisposition, hereditary
7. Study Design
Primary Purpose
Basic Science
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
60 (Anticipated)
8. Arms, Groups, and Interventions
Arm Title
Familial Carcinoid Tumors
Arm Type
Experimental
Arm Description
All patients with proven Familial Carcinoid Tumors
Intervention Type
Genetic
Intervention Name(s)
Research of constitutional genetic alterations
Intervention Description
Tumor DNA extraction Blood sample and constitutional DNA extraction CGH-array, Exome sequencing Bio-informatic analysis
Primary Outcome Measure Information:
Title
Deletion
Description
Quantitative Constitutional genetic alterations detected by comparative genomic hybridization (CGH array)
Time Frame
day 0
Title
duplication
Description
Quantitative Constitutional genetic alterations detected by comparative genomic hybridization (CGH array)
Time Frame
Day 0
Title
amplification
Description
Quantitative Constitutional genetic alterations detected by comparative genomic hybridization (CGH array)
Time Frame
Day 0
Title
mutation
Description
qualitative Constitutional genetic alterations detected by NGS (Next Generation Sequencing)
Time Frame
Day 0
10. Eligibility
Sex
All
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
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
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Guillaume CADIOT
Phone
03 26 78 84 41
Email
gcadiot@chu-reims.fr
First Name & Middle Initial & Last Name or Official Title & Degree
Louis DE MESTIER
Email
louis.demestier@aphp.fr
Facility Information:
Facility Name
Damien JOLLY
City
Reims
Country
France
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Guillaume CADIOT
Phone
03 26 78 84 41
Email
gcadiot@chu-reims.fr
12. IPD Sharing Statement
Learn more about this trial
Clinic, Pathologic and Genetic Characterization of Patients With Familial Carcinoid Tumors (Study From the GTE, Groupe d'étude Des Tumeurs Endocrines)
We'll reach out to this number within 24 hrs