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

Small Intestinal Carcinoid Tumors Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03622333
• Other study ID #: PO18020
• Status: Recruiting
• Phase: N/A
• Start date: May 28, 2018
• Est. completion date: November 28, 2022

Study information

• Verified date: February 2018
• Source: CHU de Reims
• Contact: Guillaume CADIOT
• Phone: 03 26 78 84 41
• Email: gcadiot[@]chu-reims.fr
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 60
• Est. completion date: November 28, 2022
• Est. primary completion date: May 28, 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Carcinoid Tumor
• Intestinal Neoplasms
• Small Intestinal Carcinoid Tumors

Intervention

Genetic:
• Research of constitutional genetic alterations
Tumor DNA extraction Blood sample and constitutional DNA extraction CGH-array, Exome sequencing Bio-informatic analysis

Locations

Country	Name	City	State
France	Damien JOLLY	Reims

Sponsors (1)

Lead Sponsor	Collaborator
CHU de Reims

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Deletion	Quantitative Constitutional genetic alterations detected by comparative genomic hybridization (CGH array)	day 0
Primary	duplication	Quantitative Constitutional genetic alterations detected by comparative genomic hybridization (CGH array)	Day 0
Primary	amplification	Quantitative Constitutional genetic alterations detected by comparative genomic hybridization (CGH array)	Day 0
Primary	mutation	qualitative Constitutional genetic alterations detected by NGS (Next Generation Sequencing)	Day 0