Clinical trial NCT05596539: Prospective, Longitudinal, Observational Registry of Adult Patients with Hypophosphatasia (REG-HYPO)
Official title: Prospective, Longitudinal, Observational Registry of Adult Patients with Hypophosphatasia
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Hypophosphatasia
Keywords: Cohort
Hypophosphatasia
Bone fragility
Enthesopathy
Asfotase
Lead sponsor: Assistance Publique - Hôpitaux de Paris
Sponsor class: OTHER
First posted: 2022-10-27
Enrollment: 100
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with hypophosphatasia discovered in adulthood.

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.

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,
* 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...).

Primary outcomes:
measure: Characterise the circumstances of diagnosis, and deduce ways to reduce the diagnostic delay of hypophosphatasia in adults.
timeFrame: At inclusion
Secondary outcomes:
measure: Characterise "non bony" forms: chondrocalcinosis, multiple tendon calcifications, inflammatory pseudo-rheumatism, odonto-HPP
timeFrame: At inclusion
measure: Characterise the forms for which the genetic analysis is negative
timeFrame: At inclusion
measure: Recognise situations of associated osteoporosis.
timeFrame: At 72 months
measure: Characterise the practical follow-up of asfotase alpha treatment started in adults
timeFrame: At 72 months
Other outcomes:
Locations:
city: Lille
country: France
facility: CHU Lille
city: Lyon
country: France
facility: Hospices Civils de Lyon
city: Nice
country: France
facility: CHU Nice
city: Paris
country: France
facility: Lariboisière Hospital
city: Paris
country: France
facility: Cochin Hospital
city: Poitiers
country: France
facility: CHU Poitiers
city: Rennes
country: France
facility: CHU Rennes
city: Saint-Priest-en-Jarez
country: France
facility: CHU Saint-Etienne
city: Strasbourg
country: France
facility: Les hôpitaux universitaires de Strasbourg
city: Toulouse
country: France
facility: CHU de Toulouse
Study officials:
affiliation: Assistance Publique - Hôpitaux de Paris
name: Christian ROUX, MD, PhD
role: STUDY_DIRECTOR
References: