Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
1000 participants
OBSERVATIONAL
2015-06-01
2031-12-31
Brief Summary
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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.
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Detailed Description
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1. 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.
2. To determine how often people with type I OI have vertebral compression fractures of the spine.
3. To determine how often people with OI develop scoliosis (curvature of the spine).
4. To determine how often people with OI have problems with teeth alignment and how dental health impacts a person's quality of life.
5. 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.
Conditions
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Study Design
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COHORT
PROSPECTIVE
Eligibility Criteria
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Inclusion Criteria
* 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 Criteria
* 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.
ALL
No
Sponsors
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Shriners Hospitals for Children
OTHER
Hospital for Special Surgery, New York
OTHER
Children's National Research Institute
OTHER
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
OTHER
University of California, Los Angeles
OTHER
Oregon Health and Science University
OTHER
University of Nebraska
OTHER
Alfred I. duPont Hospital for Children
OTHER
University of South Florida
OTHER
Phoenix Children's Hospital
OTHER
Marquette University
OTHER
Baylor College of Medicine
OTHER
Responsible Party
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Brendan Lee
Professor and Chairman
Principal Investigators
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V. Reid Sutton, M.D.
Role: STUDY_CHAIR
Baylor College of Medicine
Frank Rauch, M.D.
Role: STUDY_CHAIR
McGill University
Locations
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Phoenix Children's Hospital
Phoenix, Arizona, United States
University of California Los Angeles
Los Angeles, California, United States
AI Dupont Hospital for Children
Wilmington, Delaware, United States
Children's National Medical Center
Washington D.C., District of Columbia, United States
University of South Florida
Tampa, Florida, United States
Kennedy Krieger Institute / Hugo W. Moser Research Institute
Baltimore, Maryland, United States
University of Nebraska Medical Center
Omaha, Nebraska, United States
Hospital for Special Surgery
New York, New York, United States
Oregon Health and Science University
Portland, Oregon, United States
Baylor College of Medicine
Houston, Texas, United States
Shriners Hospital for Children, Chicago / Marquette University
Milwaukee, Wisconsin, United States
Shriners Hospital for Children
Montreal, Quebec, Canada
Countries
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Central Contacts
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Facility Contacts
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Other Identifiers
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H36165
Identifier Type: -
Identifier Source: org_study_id
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