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NCT Number: NCT05596539

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

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

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Key information

Conditions

Hypophosphatasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities Enthesopathy Genetic Diseases, Inborn Metabolic Diseases Metabolism, Inborn Errors Metal Metabolism, Inborn Errors Muscular Diseases Musculoskeletal Diseases Nutritional and Metabolic Diseases Tendinopathy Tendon Injuries Wounds and Injuries

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

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

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About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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...).

Treatment and study plan

Data Collection

Other

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

Primary outcomes

  1. Characterise the circumstances of diagnosis, and deduce ways to reduce the diagnostic delay of hypophosphatasia in adults.

    Time frame: At inclusion

    Time since first symptom due to hypophosphatasia

Secondary outcomes

  1. Characterise "non bony" forms: chondrocalcinosis, multiple tendon calcifications, inflammatory pseudo-rheumatism, odonto-HPP

    Time frame: At inclusion

    Proportion of each of the "non-bone" forms in the diagnosed population.

  2. Characterise the forms for which the genetic analysis is negative

    Time frame: At inclusion

    Proportion of patients with clinical hypophasphatasia, without genetic evidence.

  3. Recognise situations of associated osteoporosis.

    Time frame: At 72 months

    Proportion of patients with femoral and/or spinal densitometric osteoporosis.

  4. Characterise the practical follow-up of asfotase alpha treatment started in adults

    Time frame: At 72 months

    Maintenance of enzyme replacement therapy.

Study contacts

Contact information is provided by the study sponsor or research team.

Christian ROUX, MD, PhD

CONTACT

[email protected]

0158412579

Valérie PLENCE, MSc

CONTACT

[email protected]

0171760781/0158413478 ext. +33

Sponsors and collaborators

Lead sponsor

Assistance Publique - Hôpitaux de Paris

Other

Collaborators

  • URC-CIC Paris Descartes Necker Cochin

Registry information

Official study title

Prospective, Longitudinal, Observational Registry of Adult Patients With Hypophosphatasia

Acronym: REG-HYPO

Important dates

Study start
2023
Primary completion
2026
Study completion
2031
First posted
Oct 27, 2022
Registry last updated
Dec 16, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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