Institution of an Italian Multicenter Database of Patients Affected by Diseases of Phosphate Metabolism

NCT06826664 | Not Yet Recruiting

• 1 other identifier: 24033_oss
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 28

Brief 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. 1.Evaluation of prevalence and incidence of diseases of phosphate metabolism in Italy, globally and for single different disorders
2. 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. 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. 4.Self-evaluation of health-related quality of life in patients with a disease of phosphate metabolism
5. 5.Over time evaluation of responses to therapies in patients with diseases of phosphate metabolism.

Conditions

Phosphate Deficiency; Phosphate Overload

Keywords

Phosphate; Phosphate metabolism; Hyperphosphatemia; Hypophosphatemia; Retro-prospective clinical data collection; Database of patients

Outcome Measures

Primary Outcomes (7)

• Prevalence and incidence evaluation

  Evaluation of prevalence and incidence of diseases of phosphate metabolism, globally and for single different disorders

  Through study completion, an average of 10 years

• Clinical characterization of diseases of phosphate metabolism

  Detailed clinical characterization of each different rare disease of phosphate metabolism performed through retrospective and prospective cross-sectional and longitudinal collection of available data on disease clinical history, over time clinical manifestations and their age of onset, and related signs and symptoms. For each disease, the collected clinical features will be analyzed through descriptive statistical analyses and expressed as percentage of frequency for categorial data and as mean/median value for continuous data.

  Through study completion, an average of 10 years

• Biochemical parameters of phosphate metabolism

  Over time assessment of metabolism of phosphate, in each different rare disease, through the collection of data on specific biochemical parameters, at baseline visit and during follow-ups: * Serum phosphate (mg/dl) * 24h phosphaturia (mg/24h) Each biochemical parameter will be, singularly, categorized as reduced levels, normal levels, or increased levels, according to its reference values, and analyzed through descriptive statistical analyses as percentage of frequency.

  Through study completion, an average of 10 years

• Biochemical parameters of kidney function

  Over time assessment of kidney function, in each different rare disease of phosphate metabolism, through the collection of data on specific urinary parameters, at baseline visit and during follow-ups: * Creatinine (mg/dl) * Clearance of creatinine (ml/min) * Estimated Glomerular Filtration Rate (eGFR) (mL/min/1.73 m2) * Spot proteinuria (mg/dl) * 24h proteinuria (mg/24h) Each biochemical parameter will be, singularly, categorized as reduced levels, normal levels, or increased levels, according to its reference values, and analyzed through descriptive statistical analyses as percentage of frequency.

  Through study completion, an average of 10 years

• Descriptive analyses of skeletal health and bone fragility in patients with diseases of phosphate metabolism

  Over time assessment of skeletal health and bone fragility: 1. History of fractures, bone deformities, altered musculoskeletal development 2. Calcium and bone metabolism: Calcemia (mg/dl) Calcium ion (mg/dl) 24h calciuria (mg/24h) Parathyroid hormone (pg/ml) 25(OH)-vitamin D (ng/ml) 1,25(OH)2-vitamin D (pg/ml) Bone alkaline phosphatase (mcg/L) Serum carboxy-terminal collagen crosslinks (CTX) (ng/ml) Serum procollagen 1 N-terminal propeptide (P1NP) (ng/ml) 3. Skeleton X-ray: presence/absence of vertebral fracture, osteomalacia, calcinosis, not healing fractures, extra skeletal calcifications 4. Instrumental bone evaluation: bone mineral density (g/cm2), T-scores, Z-scores Biochemical parameters will be categorized as reduced, normal, or increased levels, according to their reference values For each disease, data will be singularly analyzed by descriptive statistical analyses, and expressed as percentage of frequency for categorial data and as mean/median value for continuous data

  Through study completion, an average of 10 years

• Assessment of health-related quality of life in patients with a disease of phosphate metabolism

  Self-evaluation of how the disease interferes with quality of life, daily activities, work, and emotional state of the affected patient, through the Short Form Health Survey 36 (SF-36) questionnaire. The SF-36 measures eight scales: physical functioning (PF), role physical (RP), bodily pain (BP), general health (GH), vitality (VT), social functioning (SF), role emotional (RE), and mental health (MH). Component analyses measure two distinct concepts: a physical dimension, represented by the Physical Component Summary (PCS), and a mental dimension, represented by the Mental Component Summary (MCS).

  Through study completion, an average of 10 years

• Assessment of response to targeted therapy in patients with diseases of phosphate metabolism

  Over time evaluation of the response to therapy in patients with a specific disease of phosphate metabolism for which a targeted therapy for that disease is approved, and who are under treatment independently by the participation to this observational study. Rate of efficacy of each treatment will be assessed among treated patients, by evaluating how medication is able to: 1) control/restore the correct phosphate metabolism over time, 2) alleviate, reduce or eliminate signs and symptoms of the disease, 3) prevent disease progression and/or worsening, 4) ameliorate the quality of life of patient. Side effects and adverse events directly related to each drug, and reported in patient's clinical record, will be evaluated, each, as percentage of frequency.

  Through study completion, an average of 10 years

Study Arms (1)

Patients affected by diseases of phosphate metabolism

A single cohort of male and female patients of any age who are affected by one disease of phosphate metabolism. The 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 single cohort of female and male patients of any age, affected by a disease of phosphate metabolism.

You may qualify if:

• Clinical and/or genetic diagnosis of a rare disease of phosphate metabolism

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 (28)

U.O.C. Endocrinologia, Azienda Ospedaliero Universitaria Policlinico Consorziale, Università degli Studi di Bari "Aldo Moro"

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

Centro di Auxoendocrinologia e Genetica Medica della Clinica Pediatrica degli Spedali Civili di Brescia

Brescia, Italy

Location

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

Cagliari, 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

Diabetologia e Endocrinologia, Auxoendocrinologia, Children's Hospital Meyer IRCCS

Florence, 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

Clinica Pediatrica ed Endocrinologia, IRCCS Ospedale Pediatrico Giannina Gaslini

Genova, Italy

Location

Dipartimento di Patologia Umana dell'adulto e dell'età evolutiva "Gaetano Barresi", Università degli Studi di Messina

Messina, Italy

Location

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

Messina, Italy

Location

Dipartimento di Malattie Endocrino-Metaboliche, IRCCS Istituto Auxologico Italiano

Milan, Italy

Location

Dipartimento di Pediatria, IRCCS Ospedale San Raffaele

Milan, Italy

Location

SC Endocrinologia, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

Milan, Italy

Location

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

Napoli, Italy

Location

Clinica Medica 1, Dipartimento di Medicina, Università di Padova

Padua, Italy

Location

UOC Endocrinologia, DIMED, Azienda Ospedaliero-Universitaria di Padova

Padua, Italy

Location

Centro di Riferimento Regionale Toscano per l'Endocrinologia Pediatrica, Azienda Ospedaliero Universitaria Pisana

Pisa, Italy

Location

Unità Operativa Endocrinologia 2, Azienda Ospedaliera Universitaria Pisana

Pisa, 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 di Endocrinologia e Diabetologia, UOS di Endocrinologia Pediatrica, IRCCS Ospedale Pediatrico Bambino Gesù

Roma, 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

IRCCS Materno-Infantile Burlo Garofolo

Trieste, Italy

Location

SOC Endocrinologia, Azienda Sanitaria-Universitaria Friuli Centrale

Udine, Italy

Location

Unità di Reumatologia, Dipartimento di Medicina, Università di Verona

Verona, Italy

Location

MeSH Terms

Conditions

Hyperphosphatemia; Hypophosphatemia

Condition Hierarchy (Ancestors)

Phosphorus Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Central Study Contacts

Maria Luisa Brandi, MD, PhD

CONTACT

+390552336663; 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 22, 2025
• First Posted: February 14, 2025
• Study Start: June 1, 2025
• Primary Completion (Estimated): May 31, 2035
• Study Completion (Estimated): May 31, 2035
• Last Updated: February 14, 2025

Record last verified: 2025-02

Locations

IT (28)