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.
Status: Recruiting
Location: See location...
Intervention Type: Diagnostic test
Study Type: Observational
SUMMARY
With hypophosphatasia still being frequently overlooked and misdiagnosed, the primary aim of this prospective observational study is to determine the prevalence of hypophosphatasia in adult patients in rheumatology, and beyond that to establish an algorithm that promotes early hypophosphatasia detection in clinical practice.
Eligibility
Participation Requirements
Sex: All
Minimum Age: 18
Healthy Volunteers: f
View:
• Written Informed consent
• Age \> 18 years
• Clinical suspicion of hypophosphatasia
• Evidence of a pathological ALP value within the clinical routine screening
Locations
Other Locations
Germany
Clinic of Internal Medicine III, Department of Oncology, Haematology, Rheumatology and Clinical Immunology, University Hospital Bonn
RECRUITING
Bonn
Contact Information
Primary
Valentin S. Schäfer, Dr. med.
rheumatologie@ukbonn.de
+49 228 287-17000
Time Frame
Start Date: 2023-02-28
Estimated Completion Date: 2024-12-01
Participants
Target number of participants: 60
Treatments
Persistant hypophosphatasemia
Patients with persistant hypophosphatasemia are highly suspicious for hypophosphatasia, and as such are the main focus of this study.~In case of persistently low alkaline phosphatase (2nd measurement, 2-4 weeks after the 1st measurement) with normal serum calcium and phosphate values (exclusion of secondary hypophosphatemia due to e.g. rickets or malnutrition) and exclusion of other causes of secondary hypophosphatemia, genetic testing for a pathological ALP gene is performed as part of routine diagnostics.~This study involves the structured recording of specific symptoms, the entire course of the disease since childhood, laboratory parameters and genetic testing.
Transient hypophosphatasemia (Control group without hypophosphatasia)
In patients, in which the initial hypophosphatasemia does not confirm with the second ALP testing, the former suspicion of hypophosphatasia must be discarded. With the exclusion of a hypophosphatasia (characterized by a persistant hypophosphatasemia among other criteria) this group of patients qualifies as a control group of patients without hypophosphatasia.~Data from this control group will be analyzed in order to investigate patient historical, clinical and laboratory features that may help in the discrimination of hypophosphatasia patients against healthy individuals.
Related Therapeutic Areas
Sponsors
Leads: University of Bonn