Urinary Biomarkers of OI Pathobiology (NCT02531087) | Clinical Trial Compass
Active — Not RecruitingNot Applicable
Urinary Biomarkers of OI Pathobiology
United States, Canada25 participantsStarted 2015-08-17
Plain-language summary
Osteogenesis imperfecta (OI) is a rare inherited disorder that causes bones to break easily. Individuals with osteogenesis imperfecta break bones often and may have other problems, including hearing loss, dental problems, pain and difficulty getting around. Before the genetic cause of OI was known, OI was classified into four types. Each type was based upon the symptoms and severity of OI. In most people with OI, the cause is a change in one of the genes that makes a protein called type 1 collagen. Some doctors now classify OI both on how severe it is as well as which gene is causing OI. When people classify OI this way, there are more than 10 types of OI. The current laboratory testing to determine OI subtype involves the collection of blood and/or skin cells.
Who can participate
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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.
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.