Understanding Hypophosphatasia in Adults with Rheumatology Issues
Official title: 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.
Run by University of Bonn · NCT06574282 · Data updated 2026-11-12
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 type | Observational |
|---|---|
| Ages | 18 Years and up |
| Sex | All |
| Enrollment | 720 (estimated) |
| Sponsor | University of Bonn Academic / other |
| Locations | 1 site (Bonn, North Rhine-Westphali) |
| Status | Recruiting |
| Started | August 25, 2024 |
| Main results expected | September 2027 |
| Study ends | September 2027 |
| Registry record updated | February 10, 2025 |
| Trial ID | NCT06574282 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a 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.
✕Probably not a fit
Patients who do not exhibit clinical signs of hypophosphatasia or have normal alkaline phosphatase levels may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: While studies on hypophosphatasia exist, this specific approach focusing on adult patients in rheumatology is relatively novel.
Who can join: the full rules
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 it's running
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Clinic of Internal Medicine III, Department of Oncology, Haematology, Rheumatology and Clinical Immunology, University Hospital Bonn
Bonn, North Rhine-Westphali, Germany Recruiting
Study contacts
- Principal investigator: Valentin S. Schäfer, Univ.-Prof. Dr. med. MUDr. — University Hospital of Bonn
- Study coordinator: Valentin S. Schäfer, Univ.-Prof. Dr. med. MUDr.
- Email: rheumatologie@ukbonn.de
- Phone: +49 228 287-17000
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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How a single ALPL gene change affects hypophosphatasia over time in Russia
This observational study will follow children and adults with hypophosphatasia who carry one ALPL gene variant to see how their symptoms and health change during routine care in Russia.
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Registry of adults with hypophosphatasia
This study is tracking adults with hypophosphatasia to see how the condition affects their bone health and symptoms over time.
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Observational study of pediatric hypophosphatasia patients receiving treatment
This study is tracking kids with hypophosphatasia who are being treated with asfotase alfa to see how the treatment affects them over at least five years.
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Observing the natural history of hypophosphatasia
This study is tracking patients with hypophosphatasia to better understand how the condition affects them and how it runs in families.
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Registry for patients with rare diseases
This study is creating a central registry for people with rare diseases to help connect them with researchers and improve treatments.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.