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Search / Trial NCT06574282

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

Launched by UNIVERSITY OF BONN · Aug 25, 2024

Trial Information

Current as of June 27, 2025

Recruiting

Keywords

Hypophosphatasia Hypophosphatasemia Musculoskeletal Complaints Genetic Disorder Rare Disease Alkaline Phosphatase Gene Alp Alpl Gene Rheumatology Cohir Study Cohir Multi Center Study Cohi Rnational Study Prevalence Diagnostic Algorithm Metabolic Bone Diseases

ClinConnect Summary

The COHIR Multi-center Study is looking at a condition called hypophosphatasia, which affects how the body processes a substance called phosphate that's important for bone health. This study is specifically focusing on adult patients who visit rheumatology departments. Researchers want to understand how many patients with hypophosphatasia are seen in these settings and to create a helpful guide, or algorithm, for doctors to use when diagnosing this condition.

To participate in this study, individuals must be over 18 years old and show signs that they might have hypophosphatasia, along with having low levels of a specific enzyme called ALP (alkaline phosphatase) in their blood tests. Participants will need to provide written consent to join. This study is non-interventional, which means that participants will not receive any treatment as part of the trial; instead, their information will help researchers better understand this rare condition and improve future diagnosis. If you think you might be eligible and are interested in learning more, it’s a good idea to talk to your healthcare provider.

Gender

ALL

Eligibility criteria

  • Inclusion Criteria:
  • Written informed consent
  • Age \> 18 years
  • Clinical suspicion of hypophosphatasia
  • Evidence of an abnormal ALP (ALP below LLN) within the clinical routine screening
  • Exclusion Criteria:
  • Failure to meet the inclusion criteria listed above

About University Of Bonn

The University of Bonn is a renowned academic institution dedicated to advancing medical research and education. With a strong emphasis on interdisciplinary collaboration, the university engages in cutting-edge clinical trials aimed at improving patient outcomes and advancing healthcare knowledge. Its comprehensive research programs are supported by state-of-the-art facilities and a commitment to ethical standards in clinical practice. By fostering partnerships with healthcare professionals and industry leaders, the University of Bonn plays a pivotal role in translating scientific discoveries into innovative therapeutic solutions.

Locations

Bonn, North Rhine Westphali, Germany

Patients applied

0 patients applied

Trial Officials

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

Principal Investigator

University Hospital of Bonn

Timeline

First submit

Trial launched

Trial updated

Estimated completion

Not reported