The purpose of this study is to assess medical events during follow-up of adult patients having hypophosphatasia and consulting rheumatologists.
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.
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...).
Patients with hypophosphatasia discovered in adulthood.
Cohort
Other
Data collection
Other interventionCollection data from diagnostic Data collected following to medical exam as part of care
Characterise the circumstances of diagnosis, and deduce ways to reduce the diagnostic delay of hypophosphatasia in adults.
Time since first symptom due to hypophosphatasia
Characterise "non bony" forms: chondrocalcinosis, multiple tendon calcifications, inflammatory pseudo-rheumatism, odonto-HPP
Proportion of each of the "non-bone" forms in the diagnosed population.
Characterise the forms for which the genetic analysis is negative
Proportion of patients with clinical hypophasphatasia, without genetic evidence.
Recognise situations of associated osteoporosis.
Proportion of patients with femoral and/or spinal densitometric osteoporosis.
Characterise the practical follow-up of asfotase alpha treatment started in adults
Maintenance of enzyme replacement therapy.
Click on the lead sponsor to view all of their trials.
Assistance Publique - Hôpitaux de Paris
Lead sponsor
URC-CIC Paris Descartes Necker Cochin
Collaborator
