Prospective, Longitudinal, Observational Registry of Adult Patients With Hypophosphatasia (REG-HYPO)
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Data collection.
- Who it may be relevant to
- Registry conditions: Hypophosphatasia. Basic parameters: from 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Prospective, Longitudinal, Observational Registry of Adult Patients With Hypophosphatasia
Overview
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.
Interventions
- Other Data collection
Collection data from diagnostic Data collected following to medical exam as part of care
Primary outcome measures
- Characterise the circumstances of diagnosis, and deduce ways to reduce the diagnostic delay of hypophosphatasia in adults. [Time frame: At inclusion]
Secondary outcome measures (4)
- Characterise "non bony" forms: chondrocalcinosis, multiple tendon calcifications, inflammatory pseudo-rheumatism, odonto-HPP [Time frame: At inclusion]
- Characterise the forms for which the genetic analysis is negative [Time frame: At inclusion]
- Recognise situations of associated osteoporosis. [Time frame: At 72 months]
- Characterise the practical follow-up of asfotase alpha treatment started in adults [Time frame: At 72 months]
Eligibility criteria
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, or at least a total alkaline phosphatase value below 40 IU/L and evidence of ALPL gene polymorphism
- 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, lack of genetic confirmation
- secondary hypophosphatasia according to the expert rheumatologist (drugs, endocrine disease, other genetic disease...).
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
France · 11 centers
- CHU de Bordeaux- Hôpital Pellegrin Place Amélia Raba Léon - 12è étage - Rhumatologie - — Bordeaux
- CHU Lille — Lille
- Hospices Civils de Lyon — Lyon
- CHU Nice — Nice
- Lariboisière Hospital — Paris
- Cochin Hospital — Paris
- CHU Poitiers — Poitiers
- CHU Rennes — Rennes
- … and 3 more centers
Identifiers
NCT: NCT05596539 · APHP220575