ClinicalTrials.gov record NCT05596539

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

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Jul 27, 2026

Prospective, Longitudinal, Observational Registry of Adult Patients With Hypophosphatasia

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
Age18 years old and older
SexAll
LocationFrance
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

A prospective registry collecting clinical data from adults with hypophosphatasia who consult rheumatologists. It records medical events, how and when diagnosis happened, and outcomes such as fractures, non-bone manifestations, and use of asfotase alfa. Data are collected during routine medical care and followed over time.

What it is studying. The study aims to describe prospectively the medical events and diagnostic pathway in adults with hypophosphatasia. It seeks to document circumstances and timing of diagnosis, the frequency of non‑bony forms (for example chondrocalcinosis or tendon calcifications), cases without genetic confirmation, associated osteoporosis, and how enzyme replacement with asfotase alfa is followed in clinical practice.

What the researchers hope to learn. Describe diagnostic delay and its circumstances; characterize non-bone presentations of adult HPP; quantify clinical cases without genetic confirmation; identify associated osteoporosis; and document real-world follow-up of asfotase alfa treatment.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Other
  • Data collection

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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...).

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry

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.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants have their medical information collected prospectively from routine rheumatology exams and care. The registry records timing of symptoms and diagnosis, alkaline phosphatase results, available genetic test results, clinical features (including non-bony forms), bone density results, and treatment data such as use and maintenance of asfotase alfa. Data are collected at inclusion and during follow-up (outcomes include measures at up to 72 months). The record describes data collection from usual care visits rather than additional specified invasive procedures.

How the study is structured. A prospective, observational registry: researchers collect medical and diagnostic information from participating adults during routine rheumatology care and follow them over time. No study treatment is assigned by the study; data are recorded to describe diagnosis, symptoms, tests, bone outcomes, and treatments used in usual care.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in France. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on hypophosphatasia

Clinical trials9 trials listed for hypophosphatasiaEvery trial the registry lists for hypophosphatasia, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in hypophosphatasia researchLatest monthly update: September 2026. Includes: Early lab flag. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Mar 22, 2023
Primary completion
September 2026 (estimated)
Study completion
September 2031 (estimated)
Target enrollment
200 participants (estimated)
Last updated on registry
Aug 5, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Assistance Publique - Hôpitaux de Paris
Collaborators
  • URC-CIC Paris Descartes Necker Cochin

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (11)

Terms used on this page · explanations by MedicalUpdates.ai

follow-up
The period after treatment or enrolment during which participants are observed or contacted, for example to record side effects or outcomes.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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