Creation, Management and Analysis of a National Database of Patients Affected by Hypoparathyroidism or Pseudohypoparathyroidism

What this Trial Is About

This research aims to create and analyze a national multicenter database of patients in Italy affected by hypoparathyroidism or pseudohypoparathyroidism, two rare endocrine diseases affecting calcium regulation. The studys purpose is to collect detailed medical, genetic, diagnostic, clinical, and treatment data from a large number of patients to better understand these conditions, their prevalence, incidence, and clinical features. This observational study does not involve interventions but focuses on gathering valuable information to improve patient care and knowledge over time. The study will involve 41 specialist clinical centers across Italy, including endocrinology and pediatric departments, collecting data from patients of any age and gender diagnosed with chronic hypoparathyroidism or pseudohypoparathyroidism. Data collection will be both retrospective and prospective, spanning 10 years from the initial recruitment visit and continuing through regular follow-up visits as part of routine clinical care. No new treatments or additional procedures beyond standard care are part of this observational study. Participants will have their health information collected anonymously, including medical history, bone health assessments, genetic testing results, biochemical measures, treatment responses, and quality of life questionnaires. Researchers will analyze these data to assess disease prevalence, clinical characteristics, bone fragility, and therapy outcomes. The study emphasizes long-term follow-up with continuous data updates during routine medical visits, aiming to enhance understanding and management of these rare diseases over a decade.

Institution of an Italian Multicenter Database of Patients Affected by Hypoparathyroidism or Pseudohypoparathyroidism