Characteristics of Hypophosphatasia in Adult Patients in Rheumatology

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.

Conditions

• Hypophosphatasia

Interventions

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

Sponsors & Collaborators

• University of Bonn

  lead OTHER

Principal Investigators

• Valentin S. Schäfer, Dr. med. · University Hospital of Bonn

Eligibility

Min Age

18 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2023-02-28

Primary Completion

2024-12-01

Completion

2024-12-01

Countries

• Germany

Study Locations