Study and Follow-up of Multiple Endocrine Neoplasia Type 1

NCT03348501 | Recruiting

• 1 other identifier: GOUDET PARI2011
• Study Type: observational
• Target: 2,000
• Locations: 1 country
• Sites: 1

Brief Summary

Multiple Endocrine Neoplasia type I (MEN1) or Wermer syndrome is an autosomal dominant disease that predisposes patients to the development of endocrine tumours, principally parathyroid, pituitary or duodenal-pancreatic tumours. It is due to mutations that abolish the function of the MEN1 gene, which contributes to tumour regulation. It is a rare disease, with an estimated prevalence in the general population of 1/30,000. Penetrance of the disease is late but very high (almost 100% at 50 years of age). The first clinical manifestations usually appear after the age of 30 or 40 years. The three cardinal endocrine characteristics of MEN1 are secreting tumours of the parathyroid, the pituitary gland and the pancreas. Tumours of the adrenal glands, bronchial or thymic endocrine tumours, ependymoma and meningioma of the central nervous system, visceral leiomyomas, and certain cutaneous tumours can also be found as well as these cardinal tumours. The diagnosis of MEN1 is essential to ensure 1) appropriate therapeutic management of the proven endocrine manifestations 2) screening for other endocrine and non-endocrine tumours (lesions), 3) family screening of affected relatives whether they are symptomatic or not 4) the surveillance of thus diagnosed patients. Studies on mortality in MEN1 have shown that the causes of death are mainly due to the disease. The non-diagnosis of MEN1 is a cause of therapeutic failure in the management of the endocrine lesions. For the success of the surgical treatment of an isolated endocrine lesion it is important for patients to be oriented towards a diagnosis of MEN1 as the management is different from that in usual situations. Detection is thus of major importance, as early diagnosis can improve the management. Even though the syndrome was discovered in 1903 by Erdheim and correctly documented in 1954 by Wermer, it was only in the 1970s that we became aware of the variety of clinical forms and attempted to codify its treatment. Nonetheless, published studies are fragmented and concern selected populations of few patients. They only partially answer questions arising in clinical practice concerning the prognosis and optimal management of patients. The natural history of the disease in all of its clinical forms is still poorly understood. Although advances in genetics have helped in the diagnosis of MEN1, some clinical forms are still difficult to associate with the syndrome: atypical forms, forms with hardly any symptoms and no genetic diagnosis (10%). These clinical forms need to be clarified to ensure optimal care. Only a large cohort will make it possible to describe the different forms of this disease and to clarify its prognosis

Conditions

Multiple Endocrine Neoplasia

Outcome Measures

Primary Outcomes (1)

• Questionnaire or Life quality

  through study completion, an average of 19 years

Interventions

survey for long-term follow-up of the disease OTHER

patients will be regularly asked about their state of health (occurrence of a major health event that required hospitalization, for example ...), and about their living conditions (alcohol and tobacco consumption, socio-economic environment). Questionnaires of quality of life and satisfaction related to care will also be offered at regular intervals to better know the impact of their disease on their daily lives and their perception of their care.

Eligibility Criteria

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

Study Population

This cohort includes symptomatic individuals, whose diagnosis of NEM1 has been confirmed, and domiciled in France

You may qualify if:

• \- Symptomatic individuals with a confirmed diagnosis of MEN1 and who live in France.
• Patients with the following characteristics will also be included in the cohort:
• At least two of the three cardinal clinical lesions (parathyroid, pancreas, pituitary),
• OR an isolated known lesion of the disease, cardinal or not (parathyroid, pancreas, pituitary, adrenal, thymus, bronchus, tumour of the central nervous system) associated with a mutation of the MEN1 locus on chromosome 11q13,
• OR an isolated lesion, cardinal or not (parathyroid, pancreas, pituitary, adrenal, thymus, bronchus, tumour of the central nervous system) in an individual with a confirmed family history of MEN1.
• asymptomatic patients who carry a characteristic mutation of MEN1. Current knowledge suggests that these patients will develop symptoms during their follow-up.

You may not qualify if:

• patients who present a single-organ genetic endocrine disease associated with another genetic syndrome (familial isolated pituitary adenoma FIPA, familial isolated hyperparathyroidism FIHP)

Sponsors & Collaborators

• Centre Hospitalier Universitaire Dijon: lead

Study Sites (1)

CHU Dijon Bourgogne

Dijon, 21079, France

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

serum 6 ml of blood and tissue 50 mg of tumour

MeSH Terms

Conditions

Multiple Endocrine Neoplasia

Interventions

Surveys and Questionnaires

Condition Hierarchy (Ancestors)

Endocrine Gland Neoplasms; Neoplasms by Site; Neoplasms; Neoplasms, Multiple Primary; Neoplastic Syndromes, Hereditary; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases

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, MD

CONTACT

380293031; 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: November 13, 2017
• First Posted: November 21, 2017
• Study Start: July 1, 2012
• Primary Completion (Estimated): July 1, 2031
• Study Completion (Estimated): July 1, 2031
• Last Updated: November 21, 2017

Record last verified: 2017-11

Locations

FR (1)