Study and Monitoring of Multiple Endocrine Neoplasia Type 1 (NEM)

  • STATUS
    Recruiting
  • End date
    Nov 24, 2029
  • participants needed
    1600
  • sponsor
    Centre Hospitalier Universitaire Dijon
Updated on 24 March 2022

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.

Details
Condition MEN1
Treatment Questionnaires
Clinical Study IdentifierNCT03966612
SponsorCentre Hospitalier Universitaire Dijon
Last Modified on24 March 2022

Eligibility

Yes No Not Sure

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
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