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BBD Longitudinal Study of Osteogenesis Imperfecta


Brief Summary

Osteogenesis Imperfecta (OI) is a rare disorder that causes bones to break easily. People with OI may have broken bones with little or no trauma, dentinogenesis imperfecta (DI), and, in adult years, hearing loss. It is seen in both genders and all races. OI can range from very severe to very mild. Individuals with the most severe type of OI may die at birth. People with severe OI who survive may have bowed arms and legs, very short stature and be unable to walk. People with the mildest form of OI may only break bones occasionally and have normal height and lifespan. People with OI also often have problems with the spine. The spine problems include compression fractures and scoliosis (a curvature of the spine). DI is characterized by grey or brown teeth that may chip and wear down and break easily.

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. In the past decade, it was discovered that in about 5% of people with OI it is in another gene. Some doctors now classify OI both on how severe it is as well as which gene is causing OI. Our research aims are: 1. Perform DNA testing and collect natural history data on all individuals enrolled in this longitudinal study. The genetic cause of the brittle bone disease will be compared with things like severity, various features and response to treatments. 2. We will see how often people with type I OI have vertebral compression fractures of the spine. We will do x-rays to see how often they get compression fractures of the vertebrae, what happens over time and any risk factors that increase the risk of these compression fractures. 3. We will follow people with all forms of OI to see how often they develop scoliosis (curvature of the spine). We will look at the effects of scoliosis on lung function, ability to walk and quality of life. We will also look at the effects of various treatments (bracing, surgery, etc.) on scoliosis and lung function. 4. We will look at dental health in people with OI. We will see how often people with OI have problems with teeth alignment. Importantly, we will see how dental health impacts a person's quality of life.

Study Type


Healthy Volunteers
Minimum Age
Maximum Age

Inclusion Criteria:

  • Natural History Study:
    • Have had a DNA test or skin collagen test that proves you have OI or
    • Your clinical history and x-rays are highly suggestive of OI, but your diagnosis has not been verified by collagen or DNA testing
  • Vertebral Compression Fractures component
    • You have a genetic change where your body makes half the normal amount of collagen. These types of genetic changes are called nonsense or frameshift mutations in COL1A1 or COL1A2 genes
  • Scoliosis in OI component:
    • You are older than 3 years of age
  • Dental and Craniofacial Abnormalities in OI component:
    • You are older than 3 years of age and agree to a dental exam and to digital photos of teeth and face being taken.

Exclusion Criteria:

  • Natural History Study
    • You are can't return for study visits at least yearly
    • You have a condition other than OI
    • You have OI and a second genetic or syndromic diagnosis
  • Vertebral Compression Fractures component
    • You have used a medication such as bisphosphonates, calcitonin, calcitriol, fluoride, etc., in the past year.
    • You have conditions other than OI that affects muscle and/or bone development (examples include cerebral palsy, rickets, etc.)
    • You have nonsense or frame shift mutations in the final coding exons of COL1A1 or COL1A2.
  • Scoliosis in OI component:
    • You are unable to have spine x-rays taken.
  • Dental and Craniofacial Abnormalities in OI component:
    • You refuse the dental examination.

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Study Stats
Protocol No.
Orthopedic Surgery
  • UCLA Westwood
For Providers
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