BBD Longitudinal Study of Osteogenesis Imperfecta

  • End date
    Dec 24, 2025
  • participants needed
  • sponsor
    Baylor College of Medicine
Updated on 24 January 2021
hearing loss
bone disease
short stature
type i collagen
dental exam
dentinogenesis imperfecta
rare disorder
compression fracture


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.


The purpose of this natural history study is to perform a long-term follow-up of a large group of people with osteogenesis imperfecta (OI). We will collect information including:

  • medical history
  • number of broken bones,
  • surgeries done
  • medications taken,
  • ability to walk,
  • pain
  • lung function and breathing
  • hearing
  • bone mineral density The overall goal is to improve the health and quality of life of people with OI.

There will be a total of 1000 people with OI in this study.

We will ask you to come in every year for five years and we will do the following tests or ask you about your:

Birth History and past surgical history, Current medical history, Scoliosis evaluation, Walking ability Questionnaire, Dental Quality of Life Questionnaire, Scoliosis and fractures Quality of Life Questionnaires, Physical development evaluation, Medications you are using

We will perform a physical exam, a dental exam, assess how well your lungs are working, perform a hearing test, measure your ability to walk and get around, assess your strength and if you are able to do certain things for yourself, perform a Walk Test.

We will take the following X-rays:measure your bone density (strength) with a DEXA scan, take an X-ray of your spine, take an X-ray of your hand, take an X-ray of your jaw.

We will collect the following samples from you:

We will collect 1 teaspoon blood to study your gene, may collect skin cells with a biopsy, and collect 1 teaspoon of blood and 2 teaspoon of urine for future research on OI.

Condition Osteogenesis Imperfecta, Collagen disease, Collagen Vascular Diseases, brittle bones
Clinical Study IdentifierNCT02432625
SponsorBaylor College of Medicine
Last Modified on24 January 2021


Yes No Not Sure

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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How to participate?

Step 1 Connect with a study center
What happens next?
  • You can expect the study team to contact you via email or phone in the next few days.
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Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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