MedDataX Logo

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

NCT ID: NCT05596539

Last Updated: 2025-12-16

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

RECRUITING

Total Enrollment

130 participants

Study Classification

OBSERVATIONAL

Study Start Date

2023-03-22

Study Completion Date

2031-03-31

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Hypophosphatasia

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

COHORT

Study Time Perspective

OTHER

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

Data collection

Collection data from diagnostic Data collected following to medical exam as part of care

Intervention Type OTHER

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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...).
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

Meet the organizations funding or collaborating on the study and learn about their roles.

URC-CIC Paris Descartes Necker Cochin

OTHER

Sponsor Role collaborator

Assistance Publique - Hôpitaux de Paris

OTHER

Sponsor Role lead

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

Responsibility Role SPONSOR

Principal Investigators

Learn about the lead researchers overseeing the trial and their institutional affiliations.

Christian ROUX, MD, PhD

Role: STUDY_DIRECTOR

Assistance Publique - Hôpitaux de Paris

Locations

Explore where the study is taking place and check the recruitment status at each participating site.

CHU de Bordeaux- Hôpital Pellegrin Place Amélia Raba Léon - 12è étage - Rhumatologie -

Bordeaux, France, France

Site Status NOT_YET_RECRUITING

CHU Lille

Lille, , France

Site Status RECRUITING

Hospices Civils de Lyon

Lyon, , France

Site Status NOT_YET_RECRUITING

CHU Nice

Nice, , France

Site Status RECRUITING

Lariboisière Hospital

Paris, , France

Site Status RECRUITING

Cochin Hospital

Paris, , France

Site Status RECRUITING

CHU Poitiers

Poitiers, , France

Site Status RECRUITING

CHU Rennes

Rennes, , France

Site Status RECRUITING

CHU Saint-Etienne

Saint-Priest-en-Jarez, , France

Site Status RECRUITING

Les hôpitaux universitaires de Strasbourg

Strasbourg, , France

Site Status RECRUITING

CHU de Toulouse

Toulouse, , France

Site Status RECRUITING

Countries

Review the countries where the study has at least one active or historical site.

France

Central Contacts

Reach out to these primary contacts for questions about participation or study logistics.

Christian ROUX, MD, PhD

Role: CONTACT

[email protected]
0158412579

Valérie PLENCE, MSc

Role: CONTACT

[email protected]
0171760781/0158413478 ext. +33

Facility Contacts

Find local site contact details for specific facilities participating in the trial.

Nadia MEHSEN-CETRE, MD

Role: primary

[email protected]
0556794919 ext. +33

Bernard Cortet, MD

Role: primary

[email protected]
0320444037

emmanuelle VIGNOT, MD

Role: primary

[email protected]
0472117494

Véronique BREUIL

Role: primary

FUNCK-BRENTANO Thomas, MD

Role: primary

[email protected]
01 49 95 62 91

Christian ROUX, MD, PhD

Role: primary

[email protected]
0158412579

Guillaume LARID, MD

Role: primary

[email protected]
+33549444465

Pascal GUGGENBUHL

Role: primary

Thierry THOMAS, MD

Role: primary

[email protected]
0477127643

Rose-Marie JAVIER, MD

Role: primary

[email protected]
0388127960

Guillaume COUTURE, MD

Role: primary

[email protected]
0561779781

Other Identifiers

Review additional registry numbers or institutional identifiers associated with this trial.

APHP220575

Identifier Type: -

Identifier Source: org_study_id