Active not recruitingOBSERVATIONAL

Urinary Biomarkers of OI Pathobiology

This study is investigating Osteogenesis Imperfecta (OI), often called brittle bone disease. OI is a condition where bones break very easily, and people can also have other issues like hearing loss, dental problems, and pain. Currently, determining the specific type of OI often involves blood or skin cell tests. This research aims to find out if analysing urine can provide important clues about the condition. By looking at specific substances in urine, scientists hope to better understand the different ways OI affects people and potentially develop simpler ways to classify it. This could eventually lead to more personalised care and better treatment options for individuals living with OI.

At a glance

Status

Active not recruiting

Sponsor

Baylor College of Medicine

Enrolment target

Start

17 Aug 2015

Estimated completion

31 Aug 2026

Osteogenesis Imperfecta

What is this study about?

Osteogenesis Imperfecta, or OI for short, is a condition where a person's bones break much more easily than normal. It's often called "brittle bone disease." This can happen even from very minor bumps or knocks. People with OI might also have other challenges, such as difficulties with their teeth, hearing problems, ongoing pain, and trouble moving around.

There are many different types of OI, and it can affect people very differently – some have very mild forms where breaks are rare, while others have very severe forms. In most cases, OI is caused by a change in a specific gene that helps make a protein called type 1 collagen, which is crucial for strong bones. Doctors are always working to better understand and classify OI, not just by how severe it is, but also by which specific gene is affected.

Currently, finding out the exact type of OI a person has usually involves taking blood or skin samples. This study is exploring a new approach. Researchers are looking for clues in urine samples that might tell us more about OI and how it affects different people. The hope is that by understanding these "urinary biomarkers" – which are just specific chemicals found in urine – we can learn more about the condition and potentially develop simpler ways to understand and classify it. This could be a step towards finding better and more personalised ways to manage OI in the future.

Key takeaways

The study aims to understand OI using urine samples.
It could help find new ways to classify different types of OI.
Participation involves providing urine samples.
This research is for people already in "The Longitudinal Study of OI" with specific genetic changes.
There are no new medications given in this study.
The findings could lead to better, more personalised care for OI in the future.

Who may be eligible?

To join this study, participants must already be part of a bigger study called "The Longitudinal Study of OI." This current study is specifically for people with certain genetic changes linked to OI.

If you're interested in taking part as a 'control' – meaning you don't have OI and are helping compare results – you must not be related to anyone who has OI and is in the study.

There are also some reasons why you might not be able to join. For example, if you've broken a bone recently (in the last three months), if you have kidney problems, or if you can't easily give a urine sample, you might not be eligible.

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 already enrolled in "The Longitudinal Study of OI."
I have been told I have specific genetic changes related to OI.
I have not broken a bone in the last three months.
I do not have kidney problems or high creatinine levels.
I can easily provide urine samples when needed.
If I am a control participant, I am not related to anyone with OI in the study.

Answer every question to see your result.

What does participation involve?

The detailed description of what taking part involves is not fully explained in the provided information. However, based on the eligibility criteria, it's clear that participants will need to provide urine samples regularly. It's also likely that the study involves being part of "The Longitudinal Study of OI," which suggests ongoing monitoring and assessments. The study duration and the number of visits are not specified, but providing urine samples "readily" implies that this will be a repeated activity. There is no mention of taking new medications as part of this specific study.

Potential risks and benefits

This study focuses on collecting urine samples, which is generally a very low-risk procedure. The main benefit is contributing to a better understanding of Osteogenesis Imperfecta, potentially leading to improved ways to classify the condition and, in the long term, better treatments. While there are no direct benefits to participants from this specific study, the knowledge gained could help many people in the future. As with any study, you have the right to withdraw at any time without giving a reason, and it will not affect your medical care.

Locations (7)

University of California Los Angeles
Verified postcode
Los Angeles, United States
University of Nebraska Medical Center
Verified postcode
Omaha, United States
Hospital for Special Surgery
Verified postcode
New York, United States
Oregon Health Science University
Verified postcode
Portland, United States
Baylor College of Medicine
Verified postcode
Houston, United States
Shriners Hospital for Children
City only
Milwauke, United States
Shriners Hospital for Children
Verified postcode
Montreal, Canada

Common questions

What is Osteogenesis Imperfecta (OI)?

OI, also known as brittle bone disease, is a condition that makes your bones break very easily. It can also cause other problems like dental issues and hearing loss.

What is this study trying to find out?

This study is looking at chemicals in urine to better understand how OI affects people. The goal is to find easier ways to classify different types of OI than current blood or skin tests.

Will I get new medicine in this study?

No, this study is about collecting urine samples to understand OI better. It doesn't involve giving you any new medication.

Who can join this study?

You need to be part of another study called "The Longitudinal Study of OI" and have certain genetic changes linked to OI. People without OI can also join as 'controls' if they are not related to someone with OI.

What does 'urinary biomarkers' mean?

It simply means specific chemicals found in your urine that can give doctors clues about what's happening inside your body, in this case, related to OI.