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

Recruiting

• Conditions: Hypophosphatasia

• Registration Number: NCT05596539
• Lead Sponsor: Assistance Publique - Hôpitaux de Paris

Brief 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.

Study Timeline

• Study First Submitted: 2022-10-24
• Study First Submitted QC: 2022-10-24
• Study First Posted: 2022-10-27
• Study Start: 2023-03-22
• Status Verified: 2025-01
• Last Update Submitted: 2025-01-09
• Last Update Posted: 2025-01-13
• Primary Completion: 2025-03
• Study Completion: 2031-03

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 100

Inclusion Criteria

• men and women,
• aged 18 and over, with no upper age limit, who have had a total alkaline phosphatase value of less than 40 IU/l on at least 3 occasions,
• with at least one rheumatological symptom.

Exclusion Criteria

• transient hypophosphatasia: absence of confirmation of a value below 40 IU/l on at least 3 samples,
• secondary hypophosphatasia according to the expert rheumatologist (drugs, endocrine disease, other genetic disease...).

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Characterise the circumstances of diagnosis, and deduce ways to reduce the diagnostic delay of hypophosphatasia in adults.	At inclusion	Time since first symptom due to hypophosphatasia

Secondary Outcome Measures

Name	Time	Method
Characterise the forms for which the genetic analysis is negative	At inclusion	Proportion of patients with clinical hypophasphatasia, without genetic evidence.
Recognise situations of associated osteoporosis.	At 72 months	Proportion of patients with femoral and/or spinal densitometric osteoporosis.
Characterise "non bony" forms: chondrocalcinosis, multiple tendon calcifications, inflammatory pseudo-rheumatism, odonto-HPP	At inclusion	Proportion of each of the "non-bone" forms in the diagnosed population.
Characterise the practical follow-up of asfotase alpha treatment started in adults	At 72 months	Maintenance of enzyme replacement therapy.

Trial Locations

Locations (10)

CHU Nice; 🇫🇷 Nice, France

CHU Poitiers; 🇫🇷 Poitiers, France

CHU Saint-Etienne; 🇫🇷 Saint-Priest-en-Jarez, France

CHU Rennes; 🇫🇷 Rennes, France

CHU Lille; 🇫🇷 Lille, France

Les hôpitaux universitaires de Strasbourg; 🇫🇷 Strasbourg, France

Hospices Civils de Lyon; 🇫🇷 Lyon, France

Lariboisière Hospital; 🇫🇷 Paris, France

CHU de Toulouse; 🇫🇷 Toulouse, France

Cochin Hospital; 🇫🇷 Paris, France