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Institution of an Italian Multicenter Database of Patients Affected by Diseases of Phosphate Metabolism
Sponsor: F.I.R.M.O. - Fondazione Italiana Ricerca sulle Malattie dell'Osso - Ente del Terzo Settore
Summary
The goal of this observational study is to create, manage and analyze a multicenter national database of patients affected by diseases of phosphate metabolism, aimed at collecting and studying anamnestic, diagnostic, genetic, clinical, and therapeutic data in a relatively wide number of patients with these rare inherited metabolic disorders in Italy. The study will include 28 specialist clinical centers of endocrinology, pediatric endocrinology, and pediatrics, 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 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. Collected data will include both the most classic traits of each disease and the less common ones, with the final goal of refining and deepening medical knowledge in the field of these rare inherited metabolic disorders, and, thus, to be able to define optimal tailored diagnostic, clinical, and therapeutic management of patients, improving their quality of life. The main aspects this observational study aims to assess and clarify are: 1. Evaluation of prevalence and incidence of diseases of phosphate metabolism in Italy, globally and for single different disorders 2. Clinical and biochemical characterization of different diseases of phosphate metabolism (according to single disorders and different genetic base), through both cross-sectional and longitudinal analyses of collected data 3. Evaluation of skeletal health and bone fragility in patients with diseases of phosphate metabolism, globally and based on single phosphate metabolism disorder, gender, and age 4. Self-evaluation of health-related quality of life in patients with a disease of phosphate metabolism 5. Over time evaluation of responses to therapies in patients with diseases of phosphate metabolism. The study will include a single cohort of female and male patients of any age, affected by a disease of phosphate metabolism. 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. Therapies for which response outcomes will be collected in the database, are those commonly employed for the treatment of diseases of phosphate metabolism, regardless of patients' inclusion in this observational study.
Official title: Creation, Management and Analysis of a National Database of Patients Affected by Diseases of Phosphate Metabolism
Key Details
Gender
All
Age Range
Any - Any
Study Type
OBSERVATIONAL
Enrollment
100
Start Date
2025-06-01
Completion Date
2035-05-31
Last Updated
2025-02-14
Healthy Volunteers
No
Conditions
Locations (28)
U.O.C. Endocrinologia, Azienda Ospedaliero Universitaria Policlinico Consorziale, Università degli Studi di Bari "Aldo Moro"
Bari, Italy
IRCCS Azienda Ospedaliero-Universitaria di Bologna, UO Pediatria, Programma di Malattie Endocrino-Metaboliche
Bologna, Italy
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
Centro di Auxoendocrinologia e Genetica Medica della Clinica Pediatrica degli Spedali Civili di Brescia
Brescia, Italy
Endocrinologia e Diabetologia, Azienda Ospedaliero-Universitaria di Cagliari, Presidio Ospedaliero Policlinico di Monserrato
Cagliari, Italy
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
Diabetologia e Endocrinologia, Auxoendocrinologia, Children's Hospital Meyer IRCCS
Florence, Italy
SOD Malattie del Metabolismo Minerale ed Osseo, Azienda Ospedaliero-Universitaria Careggi
Florence, Italy
Clinica Endocrinologica, Dipartimento di Medicina Interna e Specialità Mediche (DiMI), IRCCS Ospedale Policlinico San Martino, Università di Genova
Genova, Italy
Clinica Pediatrica ed Endocrinologia, IRCCS Ospedale Pediatrico Giannina Gaslini
Genova, Italy
Dipartimento di Patologia Umana dell'adulto e dell'età evolutiva "Gaetano Barresi", Università degli Studi di Messina
Messina, Italy
UOC di Endocrinologia, AOU Policlinico G. Martino, Dipartimento di Patologia Umana DETEV, Università di Messina
Messina, Italy
Dipartimento di Malattie Endocrino-Metaboliche, IRCCS Istituto Auxologico Italiano
Milan, Italy
Dipartimento di Pediatria, IRCCS Ospedale San Raffaele
Milan, Italy
SC Endocrinologia, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
Milan, Italy
Dipartimento di Pediatria, Azienda Universitaria Ospedaliera della Seconda Università degli Studi di Napoli
Naples, Italy
Clinica Medica 1, Dipartimento di Medicina, Università di Padova
Padova, Italy
UOC Endocrinologia, DIMED, Azienda Ospedaliero-Universitaria di Padova
Padova, Italy
Centro di Riferimento Regionale Toscano per l'Endocrinologia Pediatrica, Azienda Ospedaliero Universitaria Pisana
Pisa, Italy
Unità Operativa Endocrinologia 2, Azienda Ospedaliera Universitaria Pisana
Pisa, Italy
Unità di Endocrinologia e Andrologia, Dipartimento di Medicina Clinica e Molecolare, AOU Sant'Andrea, Centro di eccellenza ENETS, Università Sapienza di Roma
Roma, Italy
UOC di Endocrinologia e Diabetologia, UOS di Endocrinologia Pediatrica, IRCCS Ospedale Pediatrico Bambino Gesù
Roma, Italy
Donatello Bone Clinic, Casa di Cura Villa Donatello
Sesto Fiorentino, Italy
Endocrinologia Pediatrica Ospedale Infantile regina Margherita-Dipartimento di Scienze di Sanità Pubblica e Pediatriche, Università degli studi di Torino
Torino, Italy
SCDU Endocrinologia Diabetologia e Malattie del Metabolismo, AOU Città della Salute e della Scienza di Torino, Università di Torino
Torino, Italy
IRCCS Materno-Infantile Burlo Garofolo
Trieste, Italy
SOC Endocrinologia, Azienda Sanitaria-Universitaria Friuli Centrale
Udine, Italy
Unità di Reumatologia, Dipartimento di Medicina, Università di Verona
Verona, Italy