BBD Longitudinal Study of Osteogenesis Imperfecta
Rare Diseases Clinical Research Network Brittle Bone Disease Consortium Longitudinal Study of Osteogenesis Imperfecta
Baylor College of Medicine
1,000 participants
Jun 1, 2015
OBSERVATIONAL
Conditions
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.
Eligibility
Inclusion Criteria9
- Natural History Study:
- 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
- Patients with nonsense or frameshift mutations in COL1A1 or COL1A2 of any age and clinical features of OI type I.
- 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:
- Pregnancy in OI component:
- 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 Criteria10
- 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
- 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:
- Males
- Females who are peri-menopausal or menopausal
- Females who had gestations associated with higher order multiples.
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Locations(12)
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NCT02432625