Study and Monitoring of Multiple Endocrine Neoplasia Type 1

NCT03966612 | Recruiting

• 1 other identifier: GOUDET 2018
• Study Type: observational
• Target: 1,600
• Locations: 1 country
• Sites: 1

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.

Conditions

MEN1

Outcome Measures

Primary Outcomes (6)

• risk of occurrence of each type of MEN1 related tumors

  risk of occurrence of each type of MEN1 related tumors in patients with confirmed MEN-1

  Through study completion, an average of 10 years

• genotype-phenotype correlation : association of specific mutations (genotype) with the clinical manifestations (phenotype)

  Through study completion, an average of 10 years

• overall survival

  Through study completion, an average of 10 years

• specific survival and life expectancy

  Through study completion, an average of 10 years

• age at Men1 diagnosis globally and according to the initial presentation

  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

  Through study completion, an average of 10 years

Interventions

Questionnaires OTHER

Questionnaires about: * Socio-professional situation * Lifestyle * Health * NME 1 * specific breast cancer survey * Imaging

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients in consultation

You may qualify if:

• 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

Sponsors & Collaborators

• Centre Hospitalier Universitaire Dijon: lead

Study Sites (1)

CHU Dijon Bourgogne

Dijon, 21079, France

RECRUITING

MeSH Terms

Interventions

Surveys and Questionnaires

Intervention Hierarchy (Ancestors)

Data Collection; Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Central Study Contacts

Pierre GOUDET

CONTACT

3 80 29 56 72; pierre.goudet@chu-dijon.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 11, 2019
• First Posted: May 29, 2019
• Study Start: April 5, 2019
• Primary Completion (Estimated): December 1, 2028
• Study Completion (Estimated): November 1, 2029
• Last Updated: July 29, 2024

Record last verified: 2024-07

Locations

FR (1)