Understanding Hypophosphatasia in Adults with Rheumatologic Issues
The COHIR Study - a Non-interventional, Prospective, Single-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.
This study is trying to find out how common a rare bone disorder called hypophosphatasia is in adults with rheumatologic issues and to develop a way to spot it earlier to improve treatment.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 60 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | University of Bonn Academic / other |
| Locations | 1 site (Bonn, North Rhine-Westphalia) |
| Trial ID | NCT06161142 on ClinicalTrials.gov |
What this trial studies
This observational study aims to determine the prevalence of hypophosphatasia, a rare genetic disorder, among adult patients in rheumatology. It seeks to establish an algorithm for early detection of hypophosphatasia, which is often misdiagnosed as other bone diseases. The study will involve measuring alkaline phosphatase levels and conducting extended laboratory diagnostics, alongside symptom assessments. By identifying this condition earlier, the study hopes to improve patient outcomes and treatment approaches.
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 abnormal alkaline phosphatase levels.
Not a fit: Patients who do not exhibit symptoms or clinical suspicion of hypophosphatasia will likely not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to earlier diagnosis and better management of hypophosphatasia in adult patients.
How similar studies have performed: While hypophosphatasia is a rare condition, similar studies focusing on early detection of rare diseases have shown promise, suggesting that this approach could be beneficial.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Written Informed consent * Age \> 18 years * Clinical suspicion of hypophosphatasia * Evidence of a pathological ALP value within the clinical routine screening Exclusion Criteria: * Failure to meet the inclusion criteria listed above
Where this trial is running
Bonn, North Rhine-Westphalia
- Clinic of Internal Medicine III, Department of Oncology, Haematology, Rheumatology and Clinical Immunology, University Hospital Bonn — Bonn, North Rhine-Westphalia, Germany (Recruiting)
Study contacts
- Principal investigator: Valentin S. Schäfer, Dr. med. — University Hospital of Bonn
- Study coordinator: Valentin S. Schäfer, Dr. med.
- Email: rheumatologie@ukbonn.de
- Phone: +49 228 287-17000
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.