Understanding Hypophosphatasia in Adults with Rheumatology Issues

The COHIR Multi-center Study - a Non-interventional, Prospective, Multi-center Investigation With Exploratory Data Analysis to Assess the Proportion of Patients With Hypophosphatasia Presenting at the Department of Rheumatology and Establishment of an Algorithm to HPP Diagnosis.

Observational University of Bonn · NCT06574282

This study is trying to learn more about adults with hypophosphatasia who have joint and bone issues to help improve how they are diagnosed and treated.

Quick facts

Study typeObservational
Enrollment720 (estimated)
Ages18 Years and up
SexAll
SponsorUniversity of Bonn Academic / other
Locations1 site (Bonn, North Rhine-Westphali)
Trial IDNCT06574282 on ClinicalTrials.gov

What this trial studies

This observational study aims to assess the characteristics of adult patients with hypophosphatasia who present at rheumatology departments. It involves a multi-center approach to gather data on the prevalence of this rare genetic disorder and its musculoskeletal complaints. The study will also focus on developing an algorithm for diagnosing hypophosphatasia based on clinical findings and alkaline phosphatase levels. Participants will undergo a second measurement of alkaline phosphatase as part of the evaluation process.

Who should consider this trial

Good fit: Ideal candidates for this study are adults over 18 years old with a clinical suspicion of hypophosphatasia and evidence of low alkaline phosphatase levels.

Not a fit: Patients who do not exhibit clinical signs of hypophosphatasia or have normal alkaline phosphatase levels may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved diagnosis and understanding of hypophosphatasia in adults, enhancing patient care.

How similar studies have performed: While studies on hypophosphatasia exist, this specific approach focusing on adult patients in rheumatology is relatively novel.

Eligibility criteria

Show full inclusion / exclusion criteria
Inclusion Criteria:

* Written informed consent
* Age \> 18 years
* Clinical suspicion of hypophosphatasia
* Evidence of an abnormal ALP (ALP below LLN) within the clinical routine screening

Exclusion Criteria:

* Failure to meet the inclusion criteria listed above

Where this trial is running

Bonn, North Rhine-Westphali

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions HypophosphatasiaHypophosphatasemiaMusculoskeletal complaintsGenetic disorderRare diseaseAlkaline phosphatase geneALPALPL gene
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.