Prospective, Longitudinal, Observational Registry of Adult Patients With Hypophosphatasia (REG-HYPO)

Hypophosphatasia Clinical Trial

— REG-HYPO  

Official title:

Prospective, Longitudinal, Observational Registry of Adult Patients With Hypophosphatasia

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT05596539
• Other study ID #: APHP220575
• Status: Not yet recruiting
• Start date: November 2022
• Est. completion date: November 2029

Study information

• Verified date: October 2022
• Source: Assistance Publique - Hôpitaux de Paris
• Contact: Christian ROUX, MD, PhD
• Phone: 0158412579
• Email: christian.roux[@]aphp.fr
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

The purpose of this study is to assess medical events during follow-up of adult patients having hypophosphatasia and consulting rheumatologists.

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.

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 50
• Est. completion date: November 2029
• Est. primary completion date: November 2023
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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...).

Related Conditions & MeSH terms

• Hypophosphatasia

Intervention

Other:
• Data collection
Collection data from diagnostic Data collected following to medical exam as part of care

Locations

Country	Name	City	State
France	CHU Lille	Lille
France	Hospices Civils de Lyon	Lyon
France	Cochin Hospital	Paris
France	Lariboisière Hospital	Paris
France	CHU Poitiers	Poitiers
France	CHU Saint-Etienne	Saint-Priest-en-Jarez
France	Les hôpitaux universitaires de Strasbourg	Strasbourg
France	CHU de Toulouse	Toulouse

Sponsors (1)

Lead Sponsor	Collaborator
Assistance Publique - Hôpitaux de Paris

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Characterise the circumstances of diagnosis, and deduce ways to reduce the diagnostic delay of hypophosphatasia in adults.	Time since first symptom due to hypophosphatasia	At inclusion
Secondary	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.	At inclusion
Secondary	Characterise the forms for which the genetic analysis is negative	Proportion of patients with clinical hypophasphatasia, without genetic evidence.	At inclusion
Secondary	Recognise situations of associated osteoporosis.	Proportion of patients with femoral and/or spinal densitometric osteoporosis.	At 72 months
Secondary	Characterise the practical follow-up of asfotase alpha treatment started in adults	Maintenance of enzyme replacement therapy.	At 72 months