Prospective, Longitudinal, Observational Registry of Adult Patients With Hypophosphatasia

What this Trial Is About

This research aims to prospectively assess medical events in adult patients with hypophosphatasia (HPP), a rare inherited disease caused by mutations in the ALPL gene. Adults with HPP may experience fractures, pseudofractures, osteoarthritis, dental problems, muscle pain, headaches, muscle weakness, and other symptoms. Some patients have low serum alkaline phosphatase levels without gene mutations, making diagnosis and management challenging for rheumatologists. The study seeks to describe these medical events in adults with or without confirmed genetic abnormalities. Participants will be observed without intervention in this longitudinal registry. Data will be collected from medical examinations during routine care, focusing on diagnosis circumstances, genetic analysis results, and symptoms including bone and non-bone forms like chondrocalcinosis and inflammatory pseudo-rheumatism. The study includes follow-up for up to 72 months to recognize osteoporosis cases and monitor treatment with asfotase alpha started in adults. During the study, participants will undergo assessments to characterize diagnosis delays, non-bony symptoms, and genetic findings at inclusion. Follow-up evaluations at 72 months will review osteoporosis presence and practical management of asfotase alpha therapy. Data collection involves monitoring clinical symptoms, laboratory values, and treatment outcomes as part of regular care. The study continues until March 2031, tracking long-term health outcomes in adults with hypophosphatasia.

Prospective, Longitudinal, Observational Registry of Adult Patients With Hypophosphatasia (REG-HYPO)