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Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT06161142
Other study ID # 407/21
Secondary ID
Status Recruiting
Phase
First received
Last updated
Start date February 28, 2023
Est. completion date December 1, 2024

Study information

Verified date December 2023
Source University of Bonn
Contact Valentin S. Schäfer, Dr. med.
Phone +49 228 287-17000
Email rheumatologie@ukbonn.de
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial 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.


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.


Recruitment information / eligibility

Status Recruiting
Enrollment 60
Est. completion date December 1, 2024
Est. primary completion date December 1, 2024
Accepts healthy volunteers No
Gender All
Age group 18 Years and older
Eligibility 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


Related Conditions & MeSH terms


Intervention

Diagnostic Test:
Second alkaline phosphatase measurement
(2-4 weeks after the 1st measurement)
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).
Symptom and clinical findings checklist for hypophosphatasia
Checklist including numerous symptoms and clinical findings regarding the musculoskeletal system and non-musculoskeletal body parts
SF-36
Quality of life questionnaire
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.
Physical examination
A full rheumatological examination will be performed.
Recording of vital signs
(including body temperature, blood pressure, heart rate)
Bioelectrical Impedance Analysis
A body composition measurement by BIA (Bioelectrical Impedance Analysis [proportional mass of muscle, water and fat in kg]) will be performed.
Genetic testing of the alkaline phosphatase gene
Investigation of mutations regarding the alkaline phosphatase gene

Locations

Country Name City State
Germany Clinic of Internal Medicine III, Department of Oncology, Haematology, Rheumatology and Clinical Immunology, University Hospital Bonn Bonn North Rhine-Westphalia

Sponsors (1)

Lead Sponsor Collaborator
University of Bonn

Country where clinical trial is conducted

Germany, 

Outcome

Type Measure Description Time frame Safety issue
Primary Prevalence of hypophosphatasia in adult patients in rheumatology The primary aim of this prospective observational study is to determine the prevalence of hypophosphatasia in adult patients presenting with musculoskeletal symptoms in rheumatology. 24 months
Secondary Frequency of musculoskeletal pathology in hypophosphatasia patients in comparison with normal controls. Frequency of musculoskeletal pathology in people with biochemistry suggestive of hypophosphatasia and positive ALP gene test as compared with normal controls. 24 months
Secondary Health-related quality of life: Short Form-36 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. 24 months
Secondary Frequency of specific symptoms and clinical findings in patients with hypophosphatasia This will be derived from the symptom and clinical findings checklist. 24 months
Secondary Frequency of specific patient history findings and the occurence of hypophosphatasia 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) 24 months
Secondary Correlation between physical performance abnormalities and hypophosphatasia Physical performance is determined by standardized "short physical performance battery" 24 months
Secondary Correlation between body composition abnormalities and hypophosphatasia Body composition is determined by bioelectrical impedance analysis. 24 months
See also
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Enrolling by invitation NCT03655223 - Early Check: Expanded Screening in Newborns
Active, not recruiting NCT04195763 - Patient Reported Outcomes in Adults With Pediatric-onset Hypophosphatasia Treated With Strensiq® (Asfotase Alfa)
Not yet recruiting NCT05596539 - Prospective, Longitudinal, Observational Registry of Adult Patients With Hypophosphatasia (REG-HYPO)
Completed NCT02796885 - Characterisation of Adult-Onset Hypophosphatasia
Completed NCT02751801 - Health Burden of Hypophosphatasia
Completed NCT05890794 - Pilot Trial of Single Dose Ilofotase Alfa in Hypophosphatasia Phase 1/Phase 2
Recruiting NCT06079359 - Phase 3 Study of ALXN1850 in Treatment-Naïve Pediatric Participants With HPP Phase 3
Recruiting NCT05234567 - A Prospective Sub-Study of the Global Hypophosphatasia Registry
Completed NCT02797821 - Pharmacokinetic and Dose Response Study of Asfotase Alfa in Adult Patients With Pediatric-Onset Hypophosphatasia (HPP) Phase 2
Completed NCT01163149 - Safety and Efficacy Study of Asfotase Alfa in Adolescents and Adults With Hypophosphatasia (HPP) Phase 2
Completed NCT04925804 - Unraveling Genetics of HypoPhosPhatasia (HPP Genetics)
Completed NCT02531867 - Post-approval Clinical Study of Asfotase Alfa Treatment for Patients With Hypophosphatasia (HPP) in Japan Phase 4
Completed NCT01406977 - Dose Escalation Study to Evaluate the Safety and Tolerability of Multiple Infusions of BPS804 in Adults With Hypophosphatasia (HPP) Phase 2
Recruiting NCT01793168 - Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Completed NCT01176266 - Open-Label Study of Asfotase Alfa in Infants and Children ≤ 5 Years of Age With Hypophosphatasia (HPP) Phase 2/Phase 3
Withdrawn NCT00894075 - Safety and Efficacy Study of ENB-0040 in Juvenile Patients With Hypophosphatasia (HPP) Phase 2
Active, not recruiting NCT04222452 - The PORTRAIT Study