NCT06826664

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

Not yet recruiting Last updated 14 February 2025

What this trial tests

trial in Phosphate Deficiency in 100 participants. Not yet recruiting.

Timeline

1 June 2025

Primary endpoint
31 May 2035

31 May 2035

Quick facts

Lead sponsor	F.I.R.M.O. - Fondazione Italiana Ricerca sulle Malattie dell'Osso - Ente del Terzo Settore
Status	Not yet recruiting
Study type	OBSERVATIONAL
Enrollment	100
Start date	1 June 2025
Primary completion	31 May 2035
Estimated completion	31 May 2035
Sites	28 locations across Italy

Conditions studied

• Phosphate Deficiency — all drugs for Phosphate Deficiency →
• Phosphate Overload — all drugs for Phosphate Overload →

Sponsor

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

Who can join

Eligibility, any sex, with Phosphate Deficiency or Phosphate Overload. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

No peer-reviewed publications indexed yet for this trial.