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BBD Longitudinal Study of Osteogenesis Imperfecta


Brief Summary

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.

Study Type


Healthy Volunteers
Minimum Age
Maximum Age

Natural History Study:

Inclusion Criteria:

  • Individuals with OI diagnosed by molecular (DNA) analysis OR
  • Individuals whose clinical history and radiographs are highly suggestive of OI, but whose diagnosis has not been verified by biochemical or molecular studies

Exclusion criteria:

  • Individuals who are unable to return for their scheduled follow up visits.
  • Individuals with skeletal dysplasias other than OI
  • Individuals with OI and a second genetic or syndromic diagnosis

Vertebral Compression Fractures component Inclusion criteria

  • Patients with nonsense or frameshift mutations in COL1A1 or COL1A2 of any age and clinical features of OI type I.

Exclusion criteria

  • Use of a bone-acting treatment agent such as bisphosphonates, calcitonin, calcitriol, fluoride, etc., within one year of enrollment.
  • Conditions other than Osteogenesis Imperfecta-HaploInsufficiency (OI-HI) affecting muscle and/or bone development (i.e. cerebral palsy, rickets)
  • Nonsense or frame shift mutations in the final coding exons of COL1A1 or COL1A2, as this may not lead to haploinsufficiency. Scoliosis in OI component:

Inclusion Criteria

  • All study participants between the ages of 3 to 17 years OR
  • Study participants 18 years and older with scoliosis Dental and Craniofacial Abnormalities in OI component:

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 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

  • Males
  • Females who are peri-menopausal or menopausal
  • Females who had gestations associated with higher order multiples.

Join this Trial

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Study Stats
Protocol No.
Musculoskeletal Disorders
Gaunt Sarah
  • UCLA Westwood
For Providers
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