- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT02432625
BBD Longitudinal Study of Osteogenesis Imperfecta
Rare Diseases Clinical Research Network Brittle Bone Disease Consortium Longitudinal Study of Osteogenesis Imperfecta
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 Overview
Status
Conditions
Detailed Description
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:
- 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.
- To determine how often people with type I OI have vertebral compression fractures of the spine.
- To determine how often people with OI develop scoliosis (curvature of the spine).
- To determine how often people with OI have problems with teeth alignment and how dental health impacts a person's quality of life.
- 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.
Study Type
Enrollment (Anticipated)
Contacts and Locations
Study Locations
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Quebec
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Montreal, Quebec, Canada, H3G 1A6
- Recruiting
- Shriners Hospital for Children
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California
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Los Angeles, California, United States, 90095
- Recruiting
- University of California Los Angeles
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Delaware
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Wilmington, Delaware, United States, 19803
- Recruiting
- AI Dupont Hospital for Children
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District of Columbia
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Washington, District of Columbia, United States, 21205
- Recruiting
- Children's National Medical Center
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Florida
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Tampa, Florida, United States, 33612
- Recruiting
- Tampa Shriners Hospital for Children
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Maryland
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Baltimore, Maryland, United States, 21205
- Recruiting
- Kennedy Krieger Institute / Hugo W. Moser Research Institute
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Missouri
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Kansas City, Missouri, United States, 64108
- Recruiting
- Children's Mercy Hospital
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Nebraska
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Omaha, Nebraska, United States, 68198
- Recruiting
- University of Nebraska Medical Center
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New York
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New York, New York, United States, 10021
- Recruiting
- Hospital for Special Surgery
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Oregon
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Portland, Oregon, United States, 97239
- Recruiting
- Oregon Health and Science University
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Texas
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Houston, Texas, United States, 77030
- Recruiting
- Baylor College of Medicine
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Wisconsin
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Milwaukee, Wisconsin, United States, 53201
- Recruiting
- Shriners Hospital for Children, Chicago / Marquette University
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- ADULT
- OLDER_ADULT
- CHILD
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
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.
Study Plan
How is the study designed?
Design Details
- Observational Models: Cohort
- Time Perspectives: Prospective
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Natural History of OI
Time Frame: 5 years
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The molecular basis of the brittle bone disease will be correlated with phenotype, disease progression and response to current standard of care therapies.
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5 years
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Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Incidence and progression of scoliosis in OI
Time Frame: 5 years
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Incidence and progression of scoliosis in OI analyzed by subtype and Cobb Angle assessment
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5 years
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Number Vertebral compression fractures in OI HaploInsufficiency
Time Frame: 5years
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Number and location of Vertebral compression fractures in OI-HI
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5years
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Incidence of Oral and craniofacial anomalies
Time Frame: 5 years
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Incidence and progression of oral and craniofacial anomalies as captured by panorex and dental exam
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5 years
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Satisfaction of Oral Health 15Y+
Time Frame: 5 years
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Satisfaction of Oral health as measure by the OHIP 20
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5 years
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Satisfaction of Oral Health 11Y-14Y
Time Frame: 5 years
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Satisfaction of Oral health as measure by the Oral health QOL 11-14Yrs
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5 years
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Effect of pregnancy in women with OI
Time Frame: 2 years
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Change in Spine, Hip, and radius Bone Mineral Density in pregnant women with OI
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2 years
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Collaborators and Investigators
Sponsor
Collaborators
Study record dates
Study Major Dates
Study Start
Primary Completion (ANTICIPATED)
Study Completion (ANTICIPATED)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (ESTIMATE)
Study Record Updates
Last Update Posted (ACTUAL)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- H36165
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Osteogenesis Imperfecta
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Ultragenyx Pharmaceutical IncMereo BioPharmaCompletedOsteogenesis Imperfecta Type III | Osteogenesis Imperfecta Type IV | Osteogenesis Imperfecta, Type IUnited States, Canada, Denmark, France, United Kingdom
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Emory UniversityNot yet recruitingOsteogenesis Imperfecta | Osteogenesis Imperfecta Type III
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Novartis PharmaceuticalsCompletedOsteogenesis ImperfectaUnited States
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Shriners Hospitals for ChildrenNovartisCompleted
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AmgenTerminatedOsteogenesis Imperfecta (OI)Canada, Czechia, Spain, United Kingdom, United States, Italy, Hungary, Australia, Belgium, France, Germany, Poland
-
Istituto Ortopedico RizzoliRecruitingOsteogenesis ImperfectaItaly
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Baylor College of MedicineRecruiting
-
SanofiRecruitingOsteogenesis ImperfectaUnited States, Australia, Canada, France
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Ultragenyx Pharmaceutical IncMereo BioPharmaRecruitingOsteogenesis ImperfectaUnited States, Canada, Turkey, Argentina, Germany, Australia, Italy, Portugal, United Kingdom, Poland, France, Netherlands