RecruitingOBSERVATIONAL

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

This research is focused on a rare bone condition called Hypophosphatasia, or HPP, which can cause bones to be weaker and lead to various health problems. Doctors sometimes find it hard to diagnose this condition because the symptoms can be similar to other diseases, especially those seen by rheumatologists. This study, called COHIR, is looking at adult patients who are already attending rheumatology clinics across multiple centres. The main goals are to understand how often HPP might be present in these patients and to develop a clearer, simpler method for doctors to identify and diagnose HPP more quickly. This ultimately aims to help patients get the right diagnosis and care sooner.

At a glance

Status

Recruiting

Sponsor

University of Bonn

Enrolment target

720

Start

25 Aug 2024

Estimated completion

01 Sep 2027

Hypophosphatasia

What is this study about?

This research study, known by its short name COHIR, is focused on a health condition called Hypophosphatasia, or HPP. HPP is a rare, inherited disorder that affects your bones and teeth, making them softer and weaker than they should be. This can lead to problems like frequent broken bones, muscle weakness, and joint pain. Because the symptoms of HPP can be similar to other conditions, especially those related to bones and joints, it can be tricky for doctors to figure out what's really going on.

This study is looking at adult patients who are already seeing a specialist called a rheumatologist. Rheumatologists are doctors who treat problems with joints, bones, and muscles. The study wants to find out how many of these patients might actually have undiagnosed HPP. By looking at information from many different hospitals and clinics (which is what 'multi-center' means), researchers hope to get a better picture of HPP in the UK.

Ultimately, the main goal is to create a simple, step-by-step guide (called an 'algorithm') that doctors can use. This guide would help them more easily and quickly identify patients who might have HPP, leading to an earlier diagnosis. Getting a diagnosis sooner means patients can get the right care and support earlier, which could make a big difference to their health and quality of life.

Key takeaways

This study is about a rare bone condition called Hypophosphatasia (HPP).
It aims to make it easier for doctors to diagnose HPP in adult patients.
Researchers will look at existing medical records and routine blood tests.
You won't receive any new treatments or extra appointments by taking part.
Your contribution helps improve diagnosis for others in the future.

Who may be eligible?

To take part in this study, you need to be an adult, aged 18 or older. You must also already be seeing a doctor for a bone or joint condition, specifically with a rheumatology team. For your doctor to consider you for this study, they must have a reason to think you might have Hypophosphatasia (HPP).

An important part of qualifying is that a routine blood test you've already had needs to show a low level of something called 'alkaline phosphatase' (often shortened to ALP). This is a normal enzyme found in your body, but if levels are too low, it can be a sign of HPP. This low ALP level must have been found during your usual check-ups, not specifically for this study.

If you don't meet all these points, or if you're not able to give your clear permission to take part, then you wouldn't be able to join this particular study.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

I am 18 years old or older.
I am currently seeing a rheumatologist for a bone or joint condition.
My doctor suspects I might have Hypophosphatasia (HPP).
A past routine blood test showed I have low alkaline phosphatase (ALP) levels.

Answer every question to see your result.

What does participation involve?

This study is 'non-interventional', which means you won't be given any new medicines or treatments as part of the research. You also won't have any extra clinic visits specifically for this study. Instead, the researchers will use information that's already gathered during your routine hospital visits for your existing condition. This includes reviewing your medical notes and the results of blood tests you've already had. The study involves looking at a second measurement of your alkaline phosphatase level, which your doctor would usually check anyway. There's no extra burden on you; your care will continue as normal.

Potential risks and benefits

Since this study only involves reviewing existing medical records and routine test results, there are no direct physical risks to you for taking part. You won't be given any new treatments or asked to undergo any extra procedures. A potential benefit is that by helping researchers understand HPP better, you contribute to developing a clearer diagnostic tool, which could lead to earlier diagnosis and improved care for future patients. If you decide to join, you are always free to change your mind and withdraw from the study at any time without explaining why, and this will not affect your usual medical care.

Locations (1)

Clinic of Internal Medicine III, Department of Oncology, Haematology, Rheumatology and Clinical Immunology, University Hospital Bonn
Verified postcode
Bonn, Germany· Recruiting

Common questions

What is Hypophosphatasia (HPP)?

HPP is a rare condition that makes bones weaker and softer due to a problem with bone mineralisation.

What is alkaline phosphatase (ALP)?

ALP is an enzyme found in your body, and low levels can sometimes be a sign of HPP.

Will I receive any new treatment in this study?

No, this study only reviews your existing medical information and routine test results; you won't get any new treatments.

Will taking part affect my usual doctor's appointments?

No, your regular medical care and appointments will continue exactly as normal.

Why is this study important?

It aims to help doctors diagnose HPP more easily and quickly in the future, which could help many patients get the right care sooner.

How to find out more

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

rheumatologie@ukbonn.de +49 228 287-17000 Official trial record

Always speak to your GP or specialist before deciding to take part in a study.