BBD Longitudinal Study of Osteogenesis Imperfecta

Recruiting now

Conditions studied: Osteogenesis Imperfecta

In brief

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.

Key facts

Study ID

NCT02432625

Run by

Baylor College of Medicine

People needed

1000

Starts

2015-06-01

Expected to finish

2031-12-31

Last updated by the study team

2025-08-13

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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

You may not qualify if…

• 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.

Where it is running

• Phoenix Children's Hospital — Phoenix, Arizona, United States (enrolling)
• University of California Los Angeles — Los Angeles, California, United States (enrolling)
• AI Dupont Hospital for Children — Wilmington, Delaware, United States (enrolling)
• Children's National Medical Center — Washington D.C., District of Columbia, United States (enrolling)
• University of South Florida — Tampa, Florida, United States (enrolling)
• Kennedy Krieger Institute / Hugo W. Moser Research Institute — Baltimore, Maryland, United States (enrolling)
• University of Nebraska Medical Center — Omaha, Nebraska, United States (enrolling)
• Hospital for Special Surgery — New York, New York, United States (enrolling)
• Oregon Health and Science University — Portland, Oregon, United States (enrolling)
• Baylor College of Medicine — Houston, Texas, United States (enrolling)
• Shriners Hospital for Children, Chicago / Marquette University — Milwaukee, Wisconsin, United States (enrolling)
• Shriners Hospital for Children — Montreal, Quebec, Canada (enrolling)

Full record on ClinicalTrials.gov

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