BBD Longitudinal Study of Osteogenesis Imperfecta

  • End date
    Dec 26, 2026
  • participants needed
  • sponsor
    Baylor College of Medicine
Updated on 26 March 2022
hearing loss
bone disease
short stature
type i collagen
dental exam
dentinogenesis imperfecta
rare disorder
compression fracture


Osteogenesis Imperfecta (OI) is a rare disorder of increased bone fragility characterized by fractures with minimal or absent trauma, dentinogenesis imperfecta (DI), and, in adult years, hearing loss. It is seen in both genders and all races. The clinical features of OI represent a continuum varying from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal stature, and normal lifespan. Fractures can occur in any bone, but are most common in the extremities. These disorders can be devastating and progressive and result in deformity, chronic pain, impaired function and loss of quality of life.

The overall goal of this study is to answer specific question about the natural history of brittle bone diseases as defined by molecular etiology and to develop the foundation for prospective clinical studies.


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). The research aims are:

  1. To collect natural history data on all individuals enrolled in this longitudinal study. The cause of the brittle bone disease will be compared with things like severity, various features and response to treatments.
  2. To determine how often people with type I OI have vertebral compression fractures of the spine.
  3. To determine how often people with OI develop scoliosis (curvature of the spine).
  4. To determine how often people with OI have problems with teeth alignment and how dental health impacts a person's quality of life.
  5. To determine the effect of pregnancy in women with OI.

There will be a total of 1000 people with OI in this study. Participants will be asked to come in every year if 17Y and younger or every other year if 18Y and older for a total of five years.

The following information will be collected at the study visits:

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 Use

The following tests will be performed:

Physical exam, dental exam, lung function test, hearing test, mobility test.

The following X-rays will be taken:

DEXA scan, X-ray of the spine, X-ray of the jaw.

Biospecimen (urine and blood) samples will be collected.

Condition Osteogenesis Imperfecta
Clinical Study IdentifierNCT02432625
SponsorBaylor College of Medicine
Last Modified on26 March 2022


Yes No Not Sure

Inclusion Criteria

All study participants between the ages of 3 to 17 years OR
Study participants 18 years and older with scoliosis
Inclusion Criteria • All subjects aged 3 years and older enrolled in the Longitudinal Study
Exclusion Criteria Subjects who refuse the dental examination
Pregnancy in OI component
Inclusion criteria
• Females of reproductive age with mutations in any known gene causing OI, who are
Dental and Craniofacial Abnormalities in OI component
contemplating pregnancy within 5 years of enrollment in the Natural History Study OR
Females who are pregnant with available pre-pregnancy BMD (within 5 years prior to the
first pregnancy visit)

Exclusion Criteria

Females who are peri-menopausal or menopausal
Females who had gestations associated with higher order multiples
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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.
  • Sign up as volunteer to help accelerate the development of new treatments and to get notified about similar trials.

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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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