Study: NCT06161142

Intervention type: DIAGNOSTIC_TEST
Intervention: Second alkaline phosphatase measurement
Description: (2-4 weeks after the 1st measurement)

Intervention type: DIAGNOSTIC_TEST
Intervention: Second alkaline phosphatase measurement
Description: (2-4 weeks after the 1st measurement)

Intervention type: DIAGNOSTIC_TEST
Intervention: Extended laboratory diagnostics
Description: 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).

Intervention type: DIAGNOSTIC_TEST
Intervention: Symptom and clinical findings checklist for hypophosphatasia
Description: Checklist including numerous symptoms and clinical findings regarding the musculoskeletal system and non-musculoskeletal body parts

Intervention type: DIAGNOSTIC_TEST
Intervention: Symptom and clinical findings checklist for hypophosphatasia
Description: Checklist including numerous symptoms and clinical findings regarding the musculoskeletal system and non-musculoskeletal body parts

Intervention type: DIAGNOSTIC_TEST
Intervention: SF-36
Description: Quality of life questionnaire

Intervention type: DIAGNOSTIC_TEST
Intervention: SF-36
Description: Quality of life questionnaire

Intervention type: DIAGNOSTIC_TEST
Intervention: Short physical performance battery (SPPB) score
Description: 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.

Intervention type: DIAGNOSTIC_TEST
Intervention: Short physical performance battery (SPPB) score
Description: 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.

Intervention type: DIAGNOSTIC_TEST
Intervention: Physical examination
Description: A full rheumatological examination will be performed.

Intervention type: DIAGNOSTIC_TEST
Intervention: Physical examination
Description: A full rheumatological examination will be performed.

Intervention type: DIAGNOSTIC_TEST
Intervention: Recording of vital signs
Description: (including body temperature, blood pressure, heart rate)

Intervention type: DIAGNOSTIC_TEST
Intervention: Recording of vital signs
Description: (including body temperature, blood pressure, heart rate)

Intervention type: DIAGNOSTIC_TEST
Intervention: Bioelectrical Impedance Analysis
Description: A body composition measurement by BIA (Bioelectrical Impedance Analysis \[proportional mass of muscle, water and fat in kg\]) will be performed.

Intervention type: DIAGNOSTIC_TEST
Intervention: Bioelectrical Impedance Analysis
Description: A body composition measurement by BIA (Bioelectrical Impedance Analysis \[proportional mass of muscle, water and fat in kg\]) will be performed.

Intervention type: DIAGNOSTIC_TEST
Intervention: Genetic testing of the alkaline phosphatase gene
Description: Investigation of mutations regarding the alkaline phosphatase gene