Hypophosphatasia
Conditions
Keywords
Cohort, Hypophosphatasia, Bone fragility, Enthesopathy, Asfotase
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.
Interventions
OTHERData collection
Collection data from diagnostic Data collected following to medical exam as part of care
Sponsors
Assistance Publique - Hôpitaux de Paris
URC-CIC Paris Descartes Necker Cochin
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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...).
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| 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 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 the practical follow-up of asfotase alpha treatment started in adults | At 72 months | Maintenance of enzyme replacement therapy. |
Countries
France
Contacts
CONTACTChristian ROUX, MD, PhD
CONTACTValérie PLENCE, MSc
STUDY_DIRECTORChristian ROUX, MD, PhD
Assistance Publique - Hôpitaux de Paris
Outcome results
None listed