Clinical trial NCT03966612: Study and Monitoring of Multiple Endocrine Neoplasia Type 1
Official title: Study and Monitoring of Multiple Endocrine Neoplasia Type 1
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: MEN1
Lead sponsor: Centre Hospitalier Universitaire Dijon
Sponsor class: OTHER
First posted: 2019-05-29
Enrollment: 1600
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients in consultation

Brief summary: 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.


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

Primary outcomes:
measure: risk of occurrence of each type of MEN1 related tumors
timeFrame: Through study completion, an average of 10 years
measure: genotype-phenotype correlation : association of specific mutations (genotype) with the clinical manifestations (phenotype)
timeFrame: Through study completion, an average of 10 years
measure: overall survival
timeFrame: Through study completion, an average of 10 years
measure: specific survival and life expectancy
timeFrame: Through study completion, an average of 10 years
measure: age at Men1 diagnosis globally and according to the initial presentation
timeFrame: Through study completion, an average of 10 years
measure: treatment description of each type of MEN1 related tumors as well as their impact on survival and on disease control
timeFrame: Through study completion, an average of 10 years
Secondary outcomes:
Other outcomes:
Locations:
city: Dijon
country: France
facility: CHU Dijon Bourgogne
Study officials:
References: