Characteristics of Hypophosphatasia in Adult Patients in Rheumatology and Their Value in Developing an Algorithm to HPP-diagnosis - the COHIR Multi-center Study

NCT06574282 | Recruiting DMC

• 1 other identifier: MED2-202002
• Study Type: observational
• Target: 720
• Locations: 1 country
• Sites: 1

Brief Summary

Non-interventional, prospective, multi-center investigation with exploratory data analysis to assess the proportion of patients with hypophosphatasia presenting at departments of rheumatology and to establish an algorithm to HPP diagnosis

Conditions

Hypophosphatasia

Keywords

Hypophosphatasia; Hypophosphatasemia; Musculoskeletal complaints; Genetic disorder; Rare disease; Alkaline phosphatase gene; ALP; ALPL gene; Rheumatology; COHIR study; COHIR multi-center study; COHIRnational study; Prevalence; Diagnostic Algorithm; Metabolic bone diseases

Outcome Measures

Primary Outcomes (1)

• 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.

  36 months

Study Arms (2)

Persistant hypophosphatasemia

Diagnostic Test: Second alkaline phosphatase measurement

Transient hypophosphatasemia (Control group without hypophosphatasia)

Diagnostic Test: Second alkaline phosphatase measurement

Interventions

Second alkaline phosphatase measurement DIAGNOSTIC_TEST

(1-4 weeks after the 1st measurement)

Persistant hypophosphatasemia; Transient hypophosphatasemia (Control group without hypophosphatasia)

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Any adult patient presenting at the participating study site's rheumatology department with musculoskeletal complaints within the timeframe of the study conduct.

You may qualify if:

• Written informed consent
• Age \> 18 years
• Clinical suspicion of hypophosphatasia
• Evidence of an abnormal ALP (ALP below LLN) within the clinical routine screening

Sponsors & Collaborators

• University of Bonn: lead

Study Sites (1)

Clinic of Internal Medicine III, Department of Oncology, Haematology, Rheumatology and Clinical Immunology, University Hospital Bonn

Bonn, North Rhine-Westphali, 53127, Germany

RECRUITING

MeSH Terms

Conditions

Hypophosphatasia; Genetic Diseases, Inborn; Rare Diseases; Bone Diseases, Metabolic

Condition Hierarchy (Ancestors)

Metal Metabolism, Inborn Errors; Metabolism, Inborn Errors; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Bone Diseases; Musculoskeletal Diseases

Study Officials

• Valentin S. Schäfer, Univ.-Prof. Dr. med. MUDr.

  University Hospital of Bonn

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Valentin S. Schäfer, Univ.-Prof. Dr. med. MUDr.

CONTACT

+49 228 287-17000; rheumatologie@ukbonn.de

Claus-Jürgen Bauer, MD

CONTACT

+49 228 287-17000; rheumatologie@ukbonn.de

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Univ.-Prof. Dr. med. MuDr.

Study Record Dates

• First Submitted: August 25, 2024
• First Posted: August 27, 2024
• Study Start: August 25, 2024
• Primary Completion (Estimated): September 1, 2027
• Study Completion (Estimated): September 1, 2027
• Last Updated: February 10, 2025

Record last verified: 2025-02

Data Sharing

• IPD Sharing: Will share

Locations

DE (1)