NCT05596539

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

Prospective, Longitudinal, Observational Registry of Adult Patients With Hypophosphatasia

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 130 (estimated)
• Sponsor: Assistance Publique - Hôpitaux de Paris · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

Summary

The purpose of this study is to assess medical events during follow-up of adult patients having hypophosphatasia and consulting rheumatologists.

Detailed description

Hypophosphatasia (HPP) is a rare inherited disease caused by mutations of the ALPL gene. In adult HPP, patients may suffer from fractures, pseudofractures, fracture healing complications, osteoarthritis, chondrocalcinosis, dental diseases, muscle pain and disability, but also headache, muscle weakness, ocular disease, and other symptoms. In some cases the diagnosis is severely delayed. Moreover a number of patients having such symptoms and a low level of serum alkaline phosphatase, without gene mutation can be followed by rheumatologists with difficulties in management of bone fragility and pain. The aim of this register is to describe prospectively the medical events in adult patients having hypophosphatasia, whether or not there is a proven genetic abnormality.

Conditions

• Hypophosphatasia

Interventions

Type	Name	Description
OTHER	Data collection	Collection data from diagnostic Data collected following to medical exam as part of care

Timeline

• Start date: 2023-03-22
• Primary completion: 2026-03-01
• Completion: 2031-03-01
• First posted: 2022-10-27
• Last updated: 2025-12-16

Locations

11 sites across 1 country: France