Actively Recruiting
BBD Longitudinal Study of Osteogenesis Imperfecta
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 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.
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
Complete this quick 3-step screening to check your eligibility
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
CONTACT
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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