Type 1 Multiple Endocrine Neoplasia Cohort Study (MEN1-GTEcohort)

August 23, 2017 updated by: Centre Hospitalier Universitaire Dijon

Type 1 Multiple Endocrine Neoplasia : a Cohort Study of the Endocrine Tumor Study Group (GTE)

Type 1 - Multiple Endocrine Neoplasia syndrome (MEN1,) is an autosomal dominant disorder secondary to MEN1 mutations that predisposes carriers to endocrine tumors. The MEN1 gene located on chromosome 11q13 encodes menin, a 610 amino acid protein expressed in all tissues tested. Menin is a scaffold protein which interacts with a large number of intracellular molecules. MEN1 disease may display various clinical associations The tumors mainly develop from endocrine tissues and may arise from parathyroid glands, duodeno-pancreas, pituitary gland, adrenal glands, and at a lower frequency from the bronchi and thymus. The penetrance is very progressive but ultimately high during a lifespan.

Although the syndrome was discovered in 1903 by Erdheim and properly documented in 1954 by Wermer, it was only in the 1970s that the variety of clinical presentations was acknowledged and first attempts to codify treatments were made. Most published studies deals with selected and small size populations. Thus, many aspects of the natural history of MEN1 remains unknown as well as the optimal care of patients. In addition, although advances in genetics improved the diagnosis of MEN1, there are still clinical forms whose attachment to the syndrome is difficult: atypical, paucisymptomatic, forms the negative genetic diagnosis (10%). These clinical forms need to be clarified to ensure optimum support.

This cohort relies on the Groupe d'étude des Tumeurs Endocrines (GTE) network for MEN1, created in February 1991, and brings together clinical centers in France and Belgium (n=80) as well as the four genetics laboratories in charge of MEN1 diagnosis. It aims at improving the knowledge of the MEN1mainly in describing:

  • its evolution over time globally and according to the initial presentation, ( particularly accounting the risk of the occurrence of secondary MEN1 related or unrelated tumors, and death)
  • the genotype-phenotype correlations and heritability of the disease
  • the real life management of patients and its impact on cure and survival for each type of MEN1-related tumor
  • the impact of the NEM on the patients' daily lives, their perception of the disease and their satisfaction with their care

Study Overview

Status

Unknown

Conditions

Study Type

Observational

Enrollment (Anticipated)

2000

Contacts and Locations

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

Study Contact

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

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Patients followed

Description

Patients with MEN1 according to the Gubbio criteria :

  • Patients with a MEN1 mutation and presenting at least one of the following symptomatic or silent lesions: pHPT or pancreatic or duodenal endocrine tumor
  • Pituitary tumor
  • Adrenal tumor
  • th-NET
  • br-NET
  • And gastric enterochromaffin-like tumor (ECLoma).
  • Patients belonging to a known MEN1 family (at least one first-degree relative affected) and presenting at least one of the aforementioned lesions.
  • Patients without positive genetic testing or a family background presenting at least two of the three major MEN1 lesions (pHPT, pancreatic, or duodenal endocrine tumor, pituitary tumor).:

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

  • Observational Models: Cohort
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Vital status
Time Frame: 12 months
12 months
MEN-1 related tumors
Time Frame: 12 months
12 months

Collaborators and Investigators

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

Sponsor

Centre Hospitalier Universitaire Dijon

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)

January 1, 2012

Primary Completion (Anticipated)

January 1, 2020

Study Completion (Anticipated)

December 1, 2020

Study Registration Dates

First Submitted

August 31, 2016

First Submitted That Met QC Criteria

August 23, 2017

First Posted (Actual)

August 25, 2017

Study Record Updates

Last Update Posted (Actual)

August 25, 2017

Last Update Submitted That Met QC Criteria

August 23, 2017

Last Verified

August 1, 2017

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • GOUDET PARI 2011

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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