Clinical trial NCT06161142: Characteristics of Hypophosphatasia in Adult Patients in Rheumatology
Official title: 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.
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Hypophosphatasia
Keywords: Hypophosphatasia
Hypophosphatasemia
Musculoskeletal complaints
Rare disease
Genetic disorder
Alkaline phosphatase gene
ALP
ALP gene
Rheumatic disease
COHIR study
Prevalence
Diagnostic Algorithm
Metabolic bone diseases
Lead sponsor: University of Bonn
Sponsor class: OTHER
First posted: 2023-12-07
Enrollment: 60
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Any adult patient presenting at the University Hospital Bonn's rheumatology department with musculoskeletal complaints within the timeframe of the study conduct.

Brief 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.

Detailed description: Hypophosphatasia (HPP) is a rare genetic disorder (1-3/300,000 severe cases in Europe) caused by one or more mutations in the alkaline phosphatase (ALP) gene. Hypomineralization results in symptoms such as arthralgias, insufficiency fractures, and poor dental status beginning in childhood. A fatal outcome is conceivable in circumstances of early infancy first presentation. In consistency with the musculoskeletal complaint pattern, HPP is far more common in the rheumatology patient population than in the general population.

However, HPP is still frequently misdiagnosed as some other form of bone disease (e.g., rickets, osteomalacia, or osteoporosis). Therefore, implementation of a clinically applicable algorithm for early hypophosphatasia detection is needed.

The primary aim of this prospective observational study is to determine the prevalence of hypophosphatasia in adult patients in rheumatology. Moreover, a further goal is to establish an algorithm that reliably separates adult HPP patients from other, rheumatologic and bone diseases.

Eligibility 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

Primary outcomes:
measure: Prevalence of hypophosphatasia in adult patients in rheumatology
timeFrame: 24 months
Secondary outcomes:
measure: Frequency of musculoskeletal pathology in hypophosphatasia patients in comparison with normal controls.
timeFrame: 24 months
measure: Health-related quality of life: Short Form-36
timeFrame: 24 months
measure: Frequency of specific symptoms and clinical findings in patients with hypophosphatasia
timeFrame: 24 months
measure: Frequency of specific patient history findings and the occurence of hypophosphatasia
timeFrame: 24 months
measure: Correlation between physical performance abnormalities and hypophosphatasia
timeFrame: 24 months
measure: Correlation between body composition abnormalities and hypophosphatasia
timeFrame: 24 months
Other outcomes:
Locations:
city: Bonn
country: Germany
facility: Clinic of Internal Medicine III, Department of Oncology, Haematology, Rheumatology and Clinical Immunology, University Hospital Bonn
state: North Rhine-Westphalia
Study officials:
affiliation: University Hospital of Bonn
name: Valentin S. Schäfer, Dr. med.
role: PRINCIPAL_INVESTIGATOR
References: