Active — Not RecruitingNot Applicable

Urinary Biomarkers of OI Pathobiology

United States25 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

SexALL

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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.

What they're measuring

HP/LP Ratio

Timeframe: 5 Years

Trial details

NCT IDNCT02531087

SponsorBaylor College of Medicine

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2019-08-31

View on ClinicalTrials.gov More Osteogenesis Imperfecta trials

Plain-language summary

Who can participate

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.