Institution of an Italian Multicenter Database of Patients With Multiple Endocrine Neoplasia Type 1 (MENNET1 Database)

NCT06790251 | Not Yet Recruiting

• 1 other identifier: 23922_oss
• Study Type: observational
• Target: 600
• Locations: 1 country
• Sites: 33

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:

1. 1.Evaluation of prevalence and incidence of MEN1 in Italy.
2. 2.Clinical characterization of MEN1 phenotypes, through both cross-sectional and longitudinal analyses of collected data, and also based on MEN1 mutation types and location.
3. 3.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.
4. 4.Over time evaluation of responses to surgical and pharmacological therapies in in patients MEN1.
5. 5.Evaluation of dietary habits in MEN1 patients, by filling out a specific questionnaire at the time of the study recruitment.
6. 6.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.

Conditions

Multiple Endocrine Neoplasia Type 1

Keywords

Multiple Endocrine Neoplasia Type 1; Retro-prospective clinical data collection; Database of patients

Outcome Measures

Primary Outcomes (6)

• Prevalence and incidence evaluation

  Evaluation of prevalence and incidence of MEN1 in Italy

  Through study completion, an average of 10 years

• Clinical characterization of MEN1 phenotypes

  Clinical characterization of MEN1 phenotypes, through both cross-sectional and longitudinal analyses of collected data, and also based on MEN1 mutation types and location

  Through study completion, an average of 10 years

• Bone fragility in patients with MEN1

  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

  Through study completion, an average of 10 years

• Therapy response in MEN1 patients

  Over time evaluation of responses to surgical and pharmacological therapies in patients MEN1

  Through study completion, an average of 10 years

• Dietary habits in MEN1 patients

  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.

  Through study completion, an average of 10 years

• Quality of life and accessibility to healthcare and cure for MEN1 patients in Italy

  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.

  Through study completion, an average of 10 years

Study Arms (1)

Patients with MEN1 syndrome

Male and female patients of any age, who are diagnosed with multiple endocrine neoplasia type 1 (MEN1), including genetic, clinical and/or familiar diagnosis. This observational study does not include any type of intervention.

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

A cohort of female and male patients of any age, diagnosed with MEN1 syndrome. The diagnosis of MEN1 syndrome will be considered in subjects with one or more of the following characteristics: 1) presence of at least two of the three main tumors characteristic of MEN1 syndrome (parathyroid adenoma, anterior pituitary adenoma, pancreatic neuroendocrine tumor/duodenal gastrinoma), 2) presence of one of the three main tumors characteristic of MEN1 syndrome and at least one first-degree relative affected by MEN1, 3) presence of a germline mutation on the MEN1 gene.

You may qualify if:

• A diagnosis of MEN1 syndrome (including either genetic, clinical and/or familiar diagnosis)

You may not qualify if:

• None

Sponsors & Collaborators

• F.I.R.M.O. - Fondazione Italiana Ricerca sulle Malattie dell'Osso - Ente del Terzo Settore: lead

Study Sites (33)

Dipartimento di Scienze Cliniche e Biologiche, Università di Torino, UO di Medicina Interna-Endocrinologia AOU San Luigi Gonzaga

Orbassano, Torino, Italy

Location

Ambulatorio Tumori Neuro-Endocrini, Unità Operativa Complessa di Oncologia Medica Universitaria, Azienda Ospedaliero-Universitaria Consorziale Policlinico di Bari

Bari, Italy

Location

IRCCS Azienda Ospedaliero-Universitaria di Bologna, UO Pediatria, Programma di Malattie Endocrino-Metaboliche

Bologna, Italy

Location

UOC Endocrinologia e Prevenzione e Cura del Diabete, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Alma Mater Studiorum Università di Bologna

Bologna, Italy

Location

Endocrinologia e Diabetologia, Azienda Ospedaliero-Universitaria di Cagliari, Presidio Ospedaliero Policlinico di Monserrato

Cagliari, Italy

Location

SC Endocrinologia, Diabetologia e Metabolismo, ASO Santa Croce e Carle

Cuneo, Italy

Location

UO Endocrinologia e Malattie del Ricambio, Azienda Ospedaliero Universitaria di Ferrara, Sezione di Endocrinologia, Geriatria e Medicina Interna, Dipartimento di Scienze Mediche, Università degli Studi di Ferrara

Ferrara, Italy

Location

SOD Malattie del Metabolismo Minerale ed Osseo, Azienda Ospedaliero-Universitaria Careggi

Florence, Italy

Location

Clinica Endocrinologica, Dipartimento di Medicina Interna e Specialità Mediche (DiMI), IRCCS Ospedale Policlinico San Martino, Università di Genova

Genova, Italy

Location

UOC di Endocrinologia, AOU Policlinico G. Martino, Dipartimento di Patologia Umana DETEV, Università di Messin

Messina, Italy

Location

Dipartimento di Malattie Endocrino-Metaboliche, IRCCS Istituto Auxologico Italiano

Milan, Italy

Location

Divisione di Oncologia Medica Gastrointestinale e Tumori Neuroendocrini, IEO

Milan, Italy

Location

IRCCS Ospedale San Raffaele

Milan, Italy

Location

SC Endocrinologia, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

Milan, Italy

Location

Dipartimento di Medicina Clinica e Chirurgia; Unità di Endocrinologia, Diabetologia e Andrologia; Università degli Studi di Napoli Federico II

Napoli, Italy

Location

Dipartimento di Pediatria, Azienda Universitaria Ospedaliera della Seconda Università degli Studi di Napoli

Napoli, Italy

Location

UOC di Endocrinologia e Malattie del Metabolismo, AOU Università degli Studi della Campania Luigi Vanvitelli

Napoli, Italy

Location

SCDU Endocrinologia Azienda Ospedaliero-Universitaria Maggiore della Carità di Novara

Novara, Italy

Location

Unità di Chirurgia Endocrina, Dipartimento di Chirurgia, Oncologia e Gastroenterologia, Università di Padova

Padua, Italy

Location

UOC Endocrinologia, DIMED, Azienda Ospedaliero-Universitaria di Padova

Padua, Italy

Location

UOSD Tumori Ereditari, Endocrinologia Oncologica, Dipartimento Oncologia, Unità Tumori Ereditari, Istituto Oncologico Veneto (IOV) di Padova

Padua, Italy

Location

Unità Operativa Endocrinologia 2, Azienda Ospedaliera Universitaria Pisana

Pisa, Italy

Location

Dipartimento di Medicina Sperimentale, "Sapienza" Università di Roma, Roma - UOC Endocrinologia, Policlinico Umberto I di Roma

Roma, Italy

Location

Unità di Endocrinologia e Andrologia, Dipartimento di Medicina Clinica e Molecolare, AOU Sant'Andrea, Centro di eccellenza ENETS, Università Sapienza di Roma

Roma, Italy

Location

UOC Endocrinologia e Diabetologia, Ospedale Pediatrico Bambin Gesù

Roma, Italy

Location

UOC di Endocrinologia, Diabetologia e Andrologia Medica, IRCCS Humanitas Research Hospital

Rozzano, Italy

Location

Donatello Bone Clinic, Casa di Cura Villa Donatello

Sesto Fiorentino, Italy

Location

Endocrinologia Pediatrica Ospedale Infantile regina Margherita-Dipartimento di Scienze di Sanità Pubblica e Pediatriche, Università degli studi di Torino

Torino, Italy

Location

SCDU Endocrinologia Diabetologia e Malattie del Metabolismo, AOU Città della Salute e della Scienza di Torino, Università di Torino

Torino, Italy

Location

SCDU Endocrinologia Oncologica, AOU Città della Salute e della Scienza di Torino, Università di Torino

Torino, Italy

Location

SOC Endocrinologia, Azienda Sanitaria-Universitaria Friuli Centrale

Udine, Italy

Location

Istituto del Pancreas, Azienda Ospedaliera Universitaria Integrata Verona Policlinico G.B Rossi

Verona, Italy

Location

UOS di Endocrinologia, Policlinico GB Rossi, Azienda Ospedaliera Universitaria Integrata di Verona

Verona, Italy

Location

Related Publications (3)

• Marini F, Giusti F, Fossi C, Cioppi F, Cianferotti L, Masi L, Boaretto F, Zovato S, Cetani F, Colao A, Davi MV, Faggiano A, Fanciulli G, Ferolla P, Ferone D, Loli P, Mantero F, Marcocci C, Opocher G, Beck-Peccoz P, Persani L, Scillitani A, Guizzardi F, Spada A, Tomassetti P, Tonelli F, Brandi ML. Correction to: Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database. Endocrine. 2018 Oct;62(1):234-241. doi: 10.1007/s12020-018-1668-3.

  PMID: 30032405 BACKGROUND

• Marini F, Giusti F, Fossi C, Cioppi F, Cianferotti L, Masi L, Boaretto F, Zovato S, Cetani F, Colao A, Davi MV, Faggiano A, Fanciulli G, Ferolla P, Ferone D, Loli P, Mantero F, Marcocci C, Opocher G, Beck-Peccoz P, Persani L, Scillitani A, Guizzardi F, Spada A, Tomassetti P, Tonelli F, Brandi ML. Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database. Endocrine. 2018 Oct;62(1):215-233. doi: 10.1007/s12020-018-1566-8. Epub 2018 Mar 1.

  PMID: 29497973 BACKGROUND

• Giusti F, Cianferotti L, Boaretto F, Cetani F, Cioppi F, Colao A, Davi MV, Faggiano A, Fanciulli G, Ferolla P, Ferone D, Fossi C, Giudici F, Gronchi G, Loli P, Mantero F, Marcocci C, Marini F, Masi L, Opocher G, Beck-Peccoz P, Persani L, Scillitani A, Sciortino G, Spada A, Tomassetti P, Tonelli F, Brandi ML. Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database. Endocrine. 2017 Nov;58(2):349-359. doi: 10.1007/s12020-017-1234-4. Epub 2017 Jan 28.

  PMID: 28132167 BACKGROUND

MeSH Terms

Conditions

Multiple Endocrine Neoplasia Type 1

Condition Hierarchy (Ancestors)

Multiple Endocrine Neoplasia; 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

Central Study Contacts

Maria Luisa Brandi, MD, PhD

CONTACT

0039-055-2336663; marialuisa@marialuisabrandi.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Target Duration: 10 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 17, 2025
• First Posted: January 24, 2025
• Study Start: June 1, 2025
• Primary Completion (Estimated): May 31, 2035
• Study Completion (Estimated): May 31, 2035
• Last Updated: January 27, 2025

Record last verified: 2025-01

Locations

IT (33)