Creation, Management and Analysis of a National Database of Patients With Multiple Endocrine Neoplasia Type 1 (MENNET1 Database)
Trial Snapshot
- Phase
- Not Applicable
- Status
- Not yet recruiting
- Sponsor
- Enrollment
- 600
- Locations
- 33
- Primary Endpoint
- Bone fragility in patients with MEN1
Study Overview
Brief Summary
The goal of this observational study is to create, manage and analyze a retro-prospective multicenter national database of patients diagnosed with multiple endocrine neoplasia type 1 (MEN1) syndrome (including genetic, clinical and/or familiar diagnosis), aimed at collecting and studying anamnestic, diagnostic, genetic, clinical, and therapeutic data in a relatively high number of patients with this rare inherited endocrine tumor syndrome in Italy.
The study will include 33 specialist clinical centers of endocrinology, pediatric endocrinology, pediatrics, and endocrine surgery, located throughout the Italian territory, and to which patients refer from all the 20 regions of Italy.
Data will be collected over time, both in retrospective and prospective manners, during the 10-year average duration of the study, starting from the recruiting visit (basal visit) and then during each follow-up visits patients will undergo for the control of disease at the recruiting clinical centers, allowing for an epidemiological evaluation of prevalence and incidence of MEN1 in Italy, collecting detailed clinical history of the disease in enrolled patients, and refining and deepening medical knowledge in the field of this rare inherited endocrine tumor syndrome, and, thus, to be able to define optimal tailored diagnostic, clinical, and therapeutic management of patients, improving their quality of life.
Collected data will include both the most classic traits of the pathology and the less common ones.
The main aspects this observational study aims to assess and clarify are:
- Evaluation of prevalence and incidence of MEN1 in Italy.
- Clinical characterization of MEN1 phenotypes, through both cross-sectional and longitudinal analyses of collected data, and also based on MEN1 mutation types and location.
- Evaluation of the over time prevalence of bone mass loss, osteopenia, osteoporosis and fragility fractures in patients with MEN1, with and without primary hyperparathyroidism, globally and also based on gender and age.
- Over time evaluation of responses to surgical and pharmacological therapies in in patients MEN1.
- Evaluation of dietary habits in MEN1 patients, by filling out a specific questionnaire at the time of the study recruitment.
- Evaluation of quality of life and accessibility to specialist medical centers and to surgical and pharmacological therapies on the Italian territory by patients affected by MEN1 syndrome, globally and according to the region of residence, by filling out a specific self-evaluation questionnaire at the time of the study recruitment.
The study will include a single cohort of female and male patients of any age, diagnosed with MEN1 syndrome (including either genetic, clinical and/or familiar diagnosis). The study does not include either any control group/comparison group or healthy volunteers.
The study itself does not involve any medical intervention or drug administration. Surgical and pharmacological treatments for which data on response to therapy will be collected in the database, are those commonly employed for the control/treatment of MEN1 tumors and related symptoms, regardless of patients' inclusion in this observational study.
Detailed Description
- Background and rationale Multiple endocrine neoplasia type 1 (MEN1) is a rare congenital endocrine tumor syndrome characterized by the development of multiple tumors, both benign and malignant, affecting specific neuroendocrine tissues, in particular the parathyroid glands, the anterior pituitary gland, the pancreas, the duodenum, and, more rarely, the adrenal glands, the thymus and the lung/bronchi. The clinical presentation of the disease is extremely variable and includes the combination of over 20 different endocrine and non-endocrine tumors and lesions. The clinical phenotype also differs among members of the same family, and in presence of the same MEN1 gene mutation.
The incidence is estimated at approximately 1/30,000, with no differences between genders, nor geographic and ethnic prevalence.
MEN1 syndrome is caused by germline mutations that inactivate the MEN1 tumor suppressor gene (11q13), which encodes the nuclear protein menin, with autosomal dominant inheritance. The mutated copy of the gene is inherited from the affected parent (in over 90% of cases), or, in very rare cases (less than 10%), generated de novo at the embryonic level, and gives the carrier a 100% penetrance to develop the syndrome after the age of 50 years.
Subjects affected by MEN1 and subjects carrying a MEN1 gene mutation, even if still asymptomatic, must undergo a rigorous program of diagnostic, biochemical and instrumental screening, annually or every two years depending on the tests, throughout their lives, in order to ensure the earliest possible diagnosis of tumors and equally early therapeutic intervention, aimed at reducing morbidity and mortality and improving the quality of life. Accuracy in the differential diagnosis of the syndrome, as well as early diagnosis of tumors, are two fundamental prognostic factors, especially for malignant tumors associated with MEN1, which still cause approximately 30% of deaths.
The therapy consists of both surgical resection of tumors and specific pharmacological therapies aimed at reducing the growth of functioning and non-functioning tumors or controlling excessive hormone secretion by functioning neuroendocrine tumors.
Study Design
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Other
Eligibility Criteria
- Sex
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- •A diagnosis of MEN1 syndrome (including either genetic, clinical and/or familiar diagnosis)
Exclusion Criteria
- Not provided
Outcomes
Primary Outcomes
Bone fragility in patients with MEN1
Time Frame: Through study completion, an average of 10 years
Evaluation of the over time prevalence of bone mass loss, osteopenia, osteoporosis and fragility fractures in patients with MEN1, with and without primary hyperparathyroidism, globally and also based on gender and age
Quality of life and accessibility to healthcare and cure for MEN1 patients in Italy
Time Frame: Through study completion, an average of 10 years
Evaluation of quality of life and accessibility to specialist medical centers and to surgical and pharmacological therapies on the Italian territory by patients affected by MEN1 syndrome, globally and according to the region of residence, by filling out a specific self-evaluation questionnaire at the time of the study recruitment. Quality of life will be specifically assessed through patient's self-evaluation of how MEN1 syndrome affects normal daily activities at home, outside and at work, and how it interferes with relationships with other people, by a series of multiple-choice questions that include, each, a scale of 4 value responses: "not at all", "not much", "enough", "very much", in which "not at all" indicates the best outcome and "very much" the worst one.
Prevalence and incidence evaluation
Time Frame: Through study completion, an average of 10 years
Evaluation of prevalence and incidence of MEN1 in Italy
Clinical characterization of MEN1 phenotypes
Time Frame: Through study completion, an average of 10 years
Clinical characterization of MEN1 phenotypes, through both cross-sectional and longitudinal analyses of collected data, and also based on MEN1 mutation types and location
Therapy response in MEN1 patients
Time Frame: Through study completion, an average of 10 years
Over time evaluation of responses to surgical and pharmacological therapies in patients MEN1
Dietary habits in MEN1 patients
Time Frame: Through study completion, an average of 10 years
Collection of data on dietary habits in MEN1 patients, by filling out a specific questionnaire at the time of the study recruitment, to assess whether patients take in sufficient nutrients that can have a protective effect on the development of tumors (i.e. antioxidants), or beneficial effect on bone health (i.e. calcium and vitamin D), or, on the contrary, they take in excessive quantities of substances that can facilitate the risk of tumors (i.e. animal-derived proteins, refined sugars and high glycemic index foods, processed foods rich in saturated fats ), or the risk of kidney stones (i.e. foods rich in oxalates). The questionnaire does not include specific scores on a scale.
Secondary Outcomes
No secondary outcomes reported