BBD Longitudinal Study of Osteogenesis Imperfecta

• Register: ClinicalTrials.gov
• Last refreshed on: 20 November 2023
• Main ID: NCT02432625
• Date of registration: 29/04/2015
• Prospective Registration: Yes
• Primary sponsor: Baylor College of Medicine
• Public title: BBD Longitudinal Study of Osteogenesis Imperfecta
• Scientific title: Rare Diseases Clinical Research Network Brittle Bone Disease Consortium Longitudinal Study of Osteogenesis Imperfecta
• Date of first enrolment: June 2015
• Target sample size: 1000
• Recruitment status: Recruiting
• URL: https://clinicaltrials.gov/ct2/show/NCT02432625
• Study type: Observational

Countries of recruitment

Canada, United States

Contacts

• Name: Frank Rauch, M.D.
• Affiliation: McGill University

• Name: V. Reid Sutton, M.D.
• Affiliation: Baylor College of Medicine

• Name: Dianne Nguyen

Key inclusion & exclusion criteria

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.



Age minimum: N/A
Age maximum: N/A
Gender: All

Health Condition(s) or Problem(s) studied

Osteogenesis Imperfecta

Primary Outcome(s)

Natural History of OI [Time Frame: 5 years]

Secondary Outcome(s)

Incidence of Oral and craniofacial anomalies [Time Frame: 5 years]

Effect of pregnancy in women with OI [Time Frame: 2 years]

Number Vertebral compression fractures in OI HaploInsufficiency [Time Frame: 5years]

Satisfaction of Oral Health 11Y-14Y [Time Frame: 5 years]

Incidence and progression of scoliosis in OI [Time Frame: 5 years]

Satisfaction of Oral Health 15Y+ [Time Frame: 5 years]

Secondary ID(s)

H36165

Source(s) of Monetary Support

Please refer to primary and secondary sponsors

Secondary Sponsor(s)

Hospital for Special Surgery, New York

Shriners Hospitals for Children

Alfred I. duPont Hospital for Children

University of California, Los Angeles

University of Nebraska

Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

University of South Florida

Children's National Research Institute

Oregon Health and Science University

Phoenix Children's Hospital