Pee power: urine test may replace needles for brittle bone diagnosis
NCT ID NCT02531087
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study is testing whether a urine test can help identify different genetic types of osteogenesis imperfecta (OI), a rare condition that causes bones to break easily. Researchers will measure certain collagen peptides in the urine of 25 people with OI. If successful, this could replace the need for blood or skin biopsies to determine the OI subtype.
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Study facts
What this study's own registry entry says, in plain language.
- Participants
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25 people
The number who actually took part.
- Started
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Aug 2015
- Expected to finish
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Aug 2026
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Individuals with OI
- Ages
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Children (under 18), adults (18 to 64) and older adults (65 and over)
- Sex
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Anyone
- Healthy volunteers
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Accepted
You do not need to have the condition being studied to take part.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: * To be able to participate, you must: Be enrolled in The Longitudinal Study of OI (NTC #02432625) and have one of the following genetic mutations: * glycine substitution mutations in COL1A1 or COL1A2 * haploinsufficient mutation in COL1A1 or COL1A2 * mutations in CRTAP, PPIB, or LEPRE1 * mutations in FKBP10 or SERPINH1 * mutations in (SERPINF1, WNT1, or IFITM5) * dominant negative glycine substitutions and haploinsufficient mutations in COL1A1, and COL1A2 If you are serving as a control, you must not be related to an individual with OI. Exclusion Criteria: * You cannot participate if: * You are unable to comply with the sample collection schedule. * You are related to one of the OI subjects and would like to serve as a control subject. * You have vertebral instrumentation or spinal deformities where we cannot assess lumbar spine aBMD. * You have a history of recent fracture (\< 3 months). * You have serum creatinine above 1x upper limits of normal. * You have abnormal kidney function. * You are using Minoxidil. * You are unable to provide a urine sample readily.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Baylor College of Medicine
Houston, Texas, 77030, United States
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Hospital for Special Surgery
New York, New York, 10021, United States
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Oregon Health Science University
Portland, Oregon, 97239, United States
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Shriners Hospital for Children
Milwauke, Wisconsin, 53201, United States
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Shriners Hospital for Children
Montreal, Quebec, H3G 1A6, Canada
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University of California Los Angeles
Los Angeles, California, 90095, United States
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University of Nebraska Medical Center
Omaha, Nebraska, 68198, United States
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Other studies related to the condition(s) this trial covers.
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