Study and Follow-up of Multiple Endocrine Neoplasia Type 1 (GENEM)

• ClinicalTrials.gov Identifier: NCT03348501
• Recruitment Status: Recruiting
• First Posted: November 21, 2017
• Last Update Posted: November 21, 2017
• Sponsor: Centre Hospitalier Universitaire Dijon
• Information provided by (Responsible Party): Centre Hospitalier Universitaire Dijon

Tracking Information

• First Submitted Date: November 13, 2017
• First Posted Date: November 21, 2017
• Last Update Posted Date: November 21, 2017
• Actual Study Start Date: July 2012
• Estimated Primary Completion Date: July 2031 (Final data collection date for primary outcome measure)
• Current Primary Outcome Measures (submitted: November 17, 2017): Questionnaire or Life quality [ Time Frame: through study completion, an average of 19 years ]
• Original Primary Outcome Measures: Same as current
• Change History: No Changes Posted
• Current Secondary Outcome Measures: Not Provided
• Original Secondary Outcome Measures: Not Provided
• Current Other Pre-specified Outcome Measures: Not Provided
• Original Other Pre-specified Outcome Measures: Not Provided

Descriptive Information

• Brief Title: Study and Follow-up of Multiple Endocrine Neoplasia Type 1
• Official Title: Study and Follow-up of Multiple Endocrine Neoplasia Type 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

• Detailed Description: Not Provided
• Study Type: Observational
• Study Design: Observational Model: Cohort; Time Perspective: Prospective
• Target Follow-Up Duration: Not Provided

Biospecimen

Retention:   Samples With DNA

Description:

serum 6 ml of blood and tissue 50 mg of tumour

• Sampling Method: Probability Sample
• Study Population: This cohort includes symptomatic individuals, whose diagnosis of NEM1 has been confirmed, and domiciled in France
• Condition: Multiple Endocrine Neoplasia

Intervention

Other: survey for long-term follow-up of the disease

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.

• Study Groups/Cohorts: Not Provided
• Publications *: Not Provided

Recruitment Information

• Recruitment Status: Recruiting
• Estimated Enrollment (submitted: November 17, 2017): 2000
• Original Estimated Enrollment: Same as current
• Estimated Study Completion Date: July 2031
• Estimated Primary Completion Date: July 2031 (Final data collection date for primary outcome measure)

Eligibility Criteria

Inclusion Criteria:

- 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.

Exclusion Criteria:

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

Sex/Gender

• Sexes Eligible for Study: All

• Ages: Child, Adult, Older Adult
• Accepts Healthy Volunteers: No

Contacts

Contact: Pierre GOUDET, MD; 380293031 ext +33; pierre.goudet@chu-dijon.fr

• Listed Location Countries: France

Administrative Information

• NCT Number: NCT03348501
• Other Study ID Numbers: GOUDET PARI2011
• Has Data Monitoring Committee: Not Provided

U.S. FDA-regulated Product

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

• IPD Sharing Statement: Not Provided
• Responsible Party: Centre Hospitalier Universitaire Dijon
• Study Sponsor: Centre Hospitalier Universitaire Dijon
• Collaborators: Not Provided
• Investigators: Not Provided
• PRS Account: Centre Hospitalier Universitaire Dijon
• Verification Date: November 2017