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Recruiting
NCT05596539
Prospective, Longitudinal, Observational Registry of Adult Patients With Hypophosphatasia (REG-HYPO)
Conditions: Hypophosphatasia
Sex: All
Ages: 18 Years – N/A
Healthy volunteers: No
Enrollment: 200
Sponsor: Assistance Publique - Hôpitaux de Paris
Location: CHU de Bordeaux- Hôpital Pellegrin Place Amélia Raba Léon - 12è étage - Rhumatologie - Bordeaux France
Summary
The purpose of this study is to assess medical events during follow-up of adult patients having hypophosphatasia and consulting rheumatologists.
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...).
Source: ClinicalTrials.gov (NCT05596539). StuddyBuddy aggregates publicly available trial information.