Characteristics of Hypophosphatasia in Adult Patients in Rheumatology

Recruiting

• Conditions: Hypophosphatasia

• Registration Number: NCT06161142
• Lead Sponsor: University of Bonn

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.

Study Timeline

• Study Start: 2023-02-28
• Study First Submitted: 2023-07-03
• Status Verified: 2023-12
• Study First Submitted QC: 2023-12-05
• Last Update Submitted: 2023-12-05
• Study First Posted: 2023-12-07
• Last Update Posted: 2023-12-07
• Primary Completion: 2024-12-01
• Study Completion: 2024-12-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 60

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Prevalence of hypophosphatasia in adult patients in rheumatology	24 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.

Secondary Outcome Measures

Name	Time	Method
Health-related quality of life: Short Form-36	24 months	The possible score ranges from 0 to 100 points, where 0 points represent the greatest possible health limitation, while 100 points represent no health limitation at all.
Frequency of specific symptoms and clinical findings in patients with hypophosphatasia	24 months	This will be derived from the symptom and clinical findings checklist.
Correlation between physical performance abnormalities and hypophosphatasia	24 months	Physical performance is determined by standardized "short physical performance battery"
Correlation between body composition abnormalities and hypophosphatasia	24 months	Body composition is determined by bioelectrical impedance analysis.
Frequency of musculoskeletal pathology in hypophosphatasia patients in comparison with normal controls.	24 months	Frequency of musculoskeletal pathology in people with biochemistry suggestive of hypophosphatasia and positive ALP gene test as compared with normal controls.
Frequency of specific patient history findings and the occurence of hypophosphatasia	24 months	Data will be derived from the medical history of hypophosphatasia patients (patient clinical data will be collected regarding the diagnosis, onset, progression, treatment course and outcome for patients with hypophosphatasia)

Trial Locations

Locations (1)

Clinic of Internal Medicine III, Department of Oncology, Haematology, Rheumatology and Clinical Immunology, University Hospital Bonn; 🇩🇪 Bonn, North Rhine-Westphalia, Germany