Study and Monitoring of Multiple Endocrine Neoplasia Type 1
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Questionnaires.
- Who it may be relevant to
- Registry conditions: MEN1. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
Multiple Endocrine Neoplasia Type I (MEN1) is a rare autosomal dominant disorder, predisposing sufferers to the development of endocrine tumors. The three most commont endocrine disorders of MEN1 are the secretory tumours of the parathyroid, pituitary gland and pancreas, in addition to which other tumours may be observed. The diagnosis of MEN1 is essential for 1) appropriate therapeutic management of proven endocrine disorders, 2) screening for other endocrine and non-endocrine tumours, 3) family screening of affected relatives and 4) monitoring of patients who have been diagnosed. Undiagnosed MEN1 is one of the reasons for therapeutic failure in the management of endocrine damage. Detection is therefore of major importance, and any improvement in early diagnosis can improve management. The natural history of the disease in all its clinical forms remains poorly understood, with published studies of selected or small populations. There are still clinical forms that are difficult to link to the syndrome. These clinical forms need to be specified in order to ensure optimal management. Only a large cohort will lead to the identification of the various forms of this condition and clarify its prognosis.
Interventions
- Other Questionnaires
Questionnaires about: * Socio-professional situation * Lifestyle * Health * NME 1 * specific breast cancer survey * Imaging
Primary outcome measures
- risk of occurrence of each type of MEN1 related tumors [Time frame: Through study completion, an average of 10 years]
- genotype-phenotype correlation : association of specific mutations (genotype) with the clinical manifestations (phenotype) [Time frame: Through study completion, an average of 10 years]
- overall survival [Time frame: Through study completion, an average of 10 years]
- specific survival and life expectancy [Time frame: Through study completion, an average of 10 years]
- age at Men1 diagnosis globally and according to the initial presentation [Time frame: Through study completion, an average of 10 years]
- treatment description of each type of MEN1 related tumors as well as their impact on survival and on disease control [Time frame: Through study completion, an average of 10 years]
Eligibility criteria
Inclusion criteria
SYMPTOMATIC PATIENTS
- person (adult or minor) who has not opposed participation
- if the patient is a minor, the parents must not oppose their child's participation,
- at least two of the three main types of lesions (parathyroid, pancreas, pituitary gland)
- OR a known isolated tumor, main type or not, associated with the gene mutation of the NEM1 locus on chromosome 11q13
- OR an isolated tumor, main type or not, in an individual with a confirmed family history of NEM1
ASYMPTOMATIC PATIENTS WITH A MUTATION
\- Presence of a characteristic mutation of NEM1
Exclusion Criteria: NA
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
France · 1 center
- CHU Dijon Bourgogne — Dijon
Identifiers
NCT: NCT03966612 · GOUDET 2018