HypophosphatasiaREG-HYPONCT05596539
Prospective, Longitudinal, Observational Registry of Adult Patients With Hypophosphatasia (REG-HYPO)
An observational study of Hypophosphatasia, run by Assistance Publique - Hôpitaux de Paris at 11 sites in France.
Trial summary
The purpose of this study is to assess medical events during follow-up of adult patients having hypophosphatasia and consulting rheumatologists. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Hypophosphatasia
- What is being tested?
- Data collection
- How many people
- 200 participants
- Where
- 11 sitesFrance
- Study dates
- 22 Mar 2023to Sep 2031
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Patients with hypophosphatasia discovered in adulthood.
Who may be able to join
- 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.
Who cannot join
- 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...).
Trial locations and contacts
11 sites in 1 country. Contact the study team or a site near you to ask about taking part.
11 sites in 1 country
France11 sites, 11 recruiting
- Recruiting
CHU de Bordeaux- Hôpital Pellegrin Place Amélia Raba Léon - 12è étage - Rhumatologie -
Bordeaux, France, 33076
Nadia MEHSEN-CETRE, MD, 0556794919 ext. +33, nadia.mehsen@chu-bordeaux.fr
- Recruiting
CHU Lille
Lille, 59000
Bernard Cortet, MD, 0320444037, bernad.cortet@chu-lille.fr
- Recruiting
Hospices Civils de Lyon
Lyon, 69003
emmanuelle VIGNOT, MD, 0472117494, emmanuelle.vignot@chu-lyon.fr
- Recruiting
CHU Nice
Nice
Véronique BREUIL
- Recruiting
Lariboisière Hospital
Paris, 75010
FUNCK-BRENTANO Thomas, MD, 01 49 95 62 91, thomas.funck-brentano@aphp.fr
- Recruiting
Cochin Hospital
Paris, 75014
Christian ROUX, MD, PhD, 0158412579, christian.roux@aphp.fr
- Recruiting
CHU Poitiers
Poitiers, 86000
Guillaume LARID, MD, +33549444465, guillaume.larid@chu-poitiers.fr
- Recruiting
CHU Rennes
Rennes, 35000
Pascal GUGGENBUHL
- Recruiting
CHU Saint-Etienne
Saint-Priest-en-Jarez, 42270
Thierry THOMAS, MD, 0477127643, thierry.thomas@chu-st-etienne.fr
- Recruiting
Les hôpitaux universitaires de Strasbourg
Strasbourg, 67200
Rose-Marie JAVIER, MD, 0388127960, rose-marie.javier@chru-strasbourg.fr
- Recruiting
CHU de Toulouse
Toulouse, 31059
Guillaume COUTURE, MD, 0561779781, couture.g@chu-toulouse.fr
About this study
Official title: Prospective, Longitudinal, Observational Registry of Adult Patients With Hypophosphatasia
The purpose of this study is to assess medical events during follow-up of adult patients having hypophosphatasia and consulting rheumatologists.
Read the 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.
- Conditions
- Hypophosphatasia
- Being tested
- Data collection
- Keywords
- Cohort, Hypophosphatasia, Bone fragility, Enthesopathy, Asfotase
- Medical subject headings
- Hypophosphatasia, Enthesopathy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Data collectionOther
Collection data from diagnostic Data collected following to medical exam as part of care
What is being measured
The primary outcome is the main question the study is designed to answer.
Characterise the circumstances of diagnosis, and deduce ways to reduce the diagnostic delay of hypophosphatasia in adults.
Time since first symptom due to hypophosphatasia
Measured: At inclusion
Secondary outcomes (4)
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.
Measured: At inclusion
Characterise the forms for which the genetic analysis is negative
Proportion of patients with clinical hypophasphatasia, without genetic evidence.
Measured: At inclusion
Recognise situations of associated osteoporosis.
Proportion of patients with femoral and/or spinal densitometric osteoporosis.
Measured: At 72 months
Characterise the practical follow-up of asfotase alpha treatment started in adults
Maintenance of enzyme replacement therapy.
Measured: At 72 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Oct 2022
- Study start22 Mar 2023
- Primary completionSep 2026 (estimated)
- Study completionSep 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for HypophosphatasiaStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Responsible party
- Sponsor
- Investigators
- Christian ROUX, MD, PhD, Study director, Assistance Publique - Hôpitaux de Paris
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05596539
- Sponsor's protocol ID
- APHP220575
- Acronym
- REG-HYPO
- Status last verified
- Jun 2026
- First submitted
- 24 Oct 2022
- Last updated
- 5 Aug 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 5 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prospective, Longitudinal, Observational Registry of Adult Patients With Hypophosphatasia
- ClinicalTrials.gov ID
- NCT05596539
- Acronym / sponsor ID
- REG-HYPO / APHP220575
- Conditions
- Hypophosphatasia
- Keywords
- Cohort, Hypophosphatasia, Bone fragility, Enthesopathy, Asfotase
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Study start
- 22 Mar 2023 (actual)
- Primary completion
- Sep 2026 (estimated)
- Study completion
- Sep 2031 (estimated)
- First posted
- 27 Oct 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Other
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patients with hypophosphatasia discovered in adulthood.
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (2 listed)
- 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...).
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Data collectionCollection data from diagnostic Data collected following to medical exam as part of care | Other | – |
Primary outcome
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
4 secondary outcomes
Characterise "non bony" forms: chondrocalcinosis, multiple tendon calcifications, inflammatory pseudo-rheumatism, odonto-HPP
Time frame: At inclusion
Characterise the forms for which the genetic analysis is negative
Time frame: At inclusion
Recognise situations of associated osteoporosis.
Time frame: At 72 months
Characterise the practical follow-up of asfotase alpha treatment started in adults
Time frame: At 72 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Aug 2026.
- Individual participant dataSharing planned: No
Related trials for Hypophosphatasia
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GRACE II (General Retrospective Analysis of Commercial Experience With AGN1 LOEP)
Osteoporosis
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Clarify HPP: Disease Burden of HPP Patients in China
Hypophosphatasia (HPP)
RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
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The Effect of Monoallelic Variants in the ALPL Gene on the Natural Course of Hypophosphatasia in Russia
Hypophosphatasia
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Christian ROUX, MD, PhD study director
Assistance Publique - Hôpitaux de Paris
11 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hypophosphatasia, run by Assistance Publique - Hôpitaux de Paris at 11 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 5 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 11 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Christian ROUX, MD, PhD (0158412579, christian.roux@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Characterise the circumstances of diagnosis, and deduce ways to reduce the diagnostic delay of hypophosphatasia in adults. (time frame: At inclusion). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Aug 2026.