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

October 24, 2022 updated by: Assistance Publique - Hôpitaux de Paris

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.

Study Overview

Status

Not yet recruiting

Conditions

Intervention / Treatment

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 Type

Observational

Enrollment (Anticipated)

50

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Patients with hypophosphatasia discovered in adulthood.

Description

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...).

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Other

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
At inclusion

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
At inclusion
Characterise the forms for which the genetic analysis is negative
Time Frame: At inclusion
Proportion of patients with clinical hypophasphatasia, without genetic evidence.
At inclusion
Recognise situations of associated osteoporosis.
Time Frame: At 72 months
Proportion of patients with femoral and/or spinal densitometric osteoporosis.
At 72 months
Characterise the practical follow-up of asfotase alpha treatment started in adults
Time Frame: At 72 months
Maintenance of enzyme replacement therapy.
At 72 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Assistance Publique - Hôpitaux de Paris

Investigators

  • Study Director: Christian ROUX, MD, PhD, Assistance Publique - Hôpitaux de Paris

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Anticipated)

November 1, 2022

Primary Completion (Anticipated)

November 1, 2023

Study Completion (Anticipated)

November 1, 2029

Study Registration Dates

First Submitted

October 24, 2022

First Submitted That Met QC Criteria

October 24, 2022

First Posted (Actual)

October 27, 2022

Study Record Updates

Last Update Posted (Actual)

October 27, 2022

Last Update Submitted That Met QC Criteria

October 24, 2022

Last Verified

October 1, 2022

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • APHP220575

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

No

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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