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.
Eligibility
Sex
ALL
Min age
—
Max age
—
Healthy volunteers
Accepted
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.
Primary outcome measure(s)
HP/LP Ratio — 5 Years The endpoint will be to compare the HP/LP ratio in OI patients with collagen overmodification (dominant negative mutations in COL1A1, COL1A2, and biallelic mutations in CRTAP, LEPRE1, PPIB) to those without overmodification (FKBP10, SERPINH1, IFITM5, SERPINF1, WNT1, and haploinsufficient mutations in COL1A1 and COL1A2).
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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