Actively Recruiting
Longitudinal Study of Osteogenesis Imperfecta by the Brittle Bone Disease Consortium Rare Diseases Clinical Research Network
Led by Baylor College of Medicine · Updated on 2025-08-13
1000
Participants Needed
12
Research Sites
865 weeks
Total Duration
On this page
Sponsors
B
Baylor College of Medicine
Lead Sponsor
S
Shriners Hospitals for Children
Collaborating Sponsor
AI-Summary
What this Trial Is About
Osteogenesis Imperfecta (OI) is a rare condition causing fragile bones that break easily, often with little or no trauma. It affects people of all genders and races, with symptoms ranging from severe deformities and mobility challenges to mild cases with few fractures. This research aims to understand the natural course of OI over time, including how it affects bone health, spine curvature, dental alignment, hearing, and quality of life, as well as the impact of pregnancy in women with OI. The study follows about 1000 individuals with OI for up to five years, with yearly visits for those 17 years and younger and visits every two years for adults. During these visits, participants undergo physical and dental exams, lung and hearing tests, mobility assessments, and imaging like DEXA scans and spine and jaw X-rays. Blood and urine samples are also collected. The study gathers detailed medical history, scoliosis evaluations, and quality of life questionnaires related to fractures, scoliosis, and dental health. Participants will be monitored for changes in their condition and response to treatments. The research team tracks walking ability, medication use, and physical development. The main goal is to document the natural history of OI, including spine fractures, scoliosis development, dental problems, and pregnancy effects, helping lay the groundwork for future clinical studies and improved care.
CONDITIONS
Official Title
BBD Longitudinal Study of Osteogenesis Imperfecta
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Individuals diagnosed with Osteogenesis Imperfecta by DNA analysis or with clinical history and X-rays strongly suggesting OI
- Patients with nonsense or frameshift mutations in COL1A1 or COL1A2 with features of OI type I (for vertebral compression fracture study)
- Study participants aged 3 to 17 years, or 18 and older with scoliosis (for scoliosis component)
- All subjects aged 3 years and older enrolled in the Longitudinal Study (for dental and craniofacial abnormalities component)
- Females of reproductive age with known OI gene mutations planning pregnancy within 5 years or pregnant with available recent bone density (for pregnancy component)
You will not qualify if you...
- Unable to attend scheduled follow-up visits
- Skeletal dysplasias other than Osteogenesis Imperfecta
- OI with a second genetic or syndromic diagnosis
- Use of bone-acting treatments such as bisphosphonates, calcitonin, calcitriol, fluoride within one year prior to enrollment (for vertebral compression fracture study)
- Conditions affecting muscle or bone development other than OI-HaploInsufficiency, such as cerebral palsy or rickets (for vertebral compression fracture study)
- Mutations in the final coding exons of COL1A1 or COL1A2 that may not cause haploinsufficiency (for vertebral compression fracture study)
- Refusal to undergo dental examination (for dental and craniofacial component)
- Males, peri-menopausal or menopausal females, or females with pregnancies involving higher order multiples (for pregnancy component)
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 12 locations
1
Phoenix Children's Hospital
Phoenix, Arizona, United States, 85016
Actively Recruiting
2
University of California Los Angeles
Los Angeles, California, United States, 90095
Actively Recruiting
3
AI Dupont Hospital for Children
Wilmington, Delaware, United States, 19803
Actively Recruiting
4
Children's National Medical Center
Washington D.C., District of Columbia, United States, 21205
Actively Recruiting
5
University of South Florida
Tampa, Florida, United States, 33620
Actively Recruiting
6
Kennedy Krieger Institute / Hugo W. Moser Research Institute
Baltimore, Maryland, United States, 21205
Actively Recruiting
7
University of Nebraska Medical Center
Omaha, Nebraska, United States, 68198
Actively Recruiting
8
Hospital for Special Surgery
New York, New York, United States, 10021
Actively Recruiting
9
Oregon Health and Science University
Portland, Oregon, United States, 97239
Actively Recruiting
10
Baylor College of Medicine
Houston, Texas, United States, 77030
Actively Recruiting
11
Shriners Hospital for Children, Chicago / Marquette University
Milwaukee, Wisconsin, United States, 53201
Actively Recruiting
12
Shriners Hospital for Children
Montreal, Quebec, Canada, H3G 1A6
Actively Recruiting
Research Team
D
Dianne Nguyen
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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