Characteristics of Hypophosphatasia in Adult Patients in Rheumatology and Their Value in Developing an Algorithm to HPP-diagnosis - the COHIR Multi-center Study

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.

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT06574282

Acronym

COHIRnational

Enrollment

720

Registered

2024-08-27

Start date

2024-08-25

Completion date

2027-09-30

Last updated

2025-02-10

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Hypophosphatasia

Keywords

Hypophosphatasia, Hypophosphatasemia, Musculoskeletal complaints, Genetic disorder, Rare disease, Alkaline phosphatase gene, ALP, ALPL gene, Rheumatology, COHIR study, COHIR multi-center study, COHIRnational study, Prevalence, Diagnostic Algorithm, Metabolic bone diseases

Brief summary

Non-interventional, prospective, multi-center investigation with exploratory data analysis to assess the proportion of patients with hypophosphatasia presenting at departments of rheumatology and to establish an algorithm to HPP diagnosis

Detailed description

Acronym: Expansion: HPP =Hypophosphatasia COHIR =Characteristics of Hypophosphatasia in Adult Patients in Rheumatology ALPL =Alkaline Phosphatase

Interventions

DIAGNOSTIC_TESTSecond alkaline phosphatase measurement

(1-4 weeks after the 1st measurement)

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
Prevalence of hypophosphatasia in adult patients in rheumatology	36 months	The primary aim of this prospective observational study is to determine the prevalence of hypophosphatasia in adult patients presenting with musculoskeletal symptoms in rheumatology.

Countries

Germany

Contacts

Primary ContactValentin S. Schäfer, Univ.-Prof. Dr. med. MUDr.

rheumatologie@ukbonn.de+49 228 287-17000

Backup ContactClaus-Jürgen Bauer, MD