NCT06161142

Characteristics of Hypophosphatasia in Adult Patients in Rheumatology

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: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 60 (estimated)
• Sponsor: University of Bonn · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Hypophosphatasia

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	Second alkaline phosphatase measurement	(2-4 weeks after the 1st measurement)
DIAGNOSTIC_TEST	Extended laboratory diagnostics	Laboratory testing investigating features that support the diagnosis of hypophosphatasia or exclude it by indicating secondary hypophosphatasemia for other reasons (including parameters such as serum calcium, inorganic serum phosphate, vitamin B6, vitamin B12, folic acid, bone-specific alkaline phosphatase, vitamin D3, and more).
DIAGNOSTIC_TEST	Symptom and clinical findings checklist for hypophosphatasia	Checklist including numerous symptoms and clinical findings regarding the musculoskeletal system and non-musculoskeletal body parts
DIAGNOSTIC_TEST	SF-36	Quality of life questionnaire
DIAGNOSTIC_TEST	Short physical performance battery (SPPB) score	The short physical performance battery is a group of measures that combines the results of the gait speed, chair stand and balance tests. It has been used as a predictive tool for possible disability and can aid in the monitoring of function in older or disease-affected people. The scores range from 0 (worst performance) to 12 (best performance). The SPPB has been shown to have predictive validity showing a gradient of risk for mortality, nursing home admission, and disability.
DIAGNOSTIC_TEST	Physical examination	A full rheumatological examination will be performed.
DIAGNOSTIC_TEST	Recording of vital signs	(including body temperature, blood pressure, heart rate)
DIAGNOSTIC_TEST	Bioelectrical Impedance Analysis	A body composition measurement by BIA (Bioelectrical Impedance Analysis \[proportional mass of muscle, water and fat in kg\]) will be performed.
DIAGNOSTIC_TEST	Genetic testing of the alkaline phosphatase gene	Investigation of mutations regarding the alkaline phosphatase gene

Timeline

• Start date: 2023-02-28
• Primary completion: 2024-12-01
• Completion: 2024-12-01
• First posted: 2023-12-07
• Last updated: 2023-12-07

Locations

1 site across 1 country: Germany