Actively Recruiting
Rare Diseases Clinical Research Network Brittle Bone Disease Consortium Longitudinal Study of Osteogenesis Imperfecta
Led by Baylor College of Medicine · Updated on 2025-08-13
1000
Participants Needed
12
Research Sites
69 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, along with dental problems and hearing loss in adults. It affects people of all genders and races, with symptoms ranging from severe deformities and mobility issues to mild cases with few fractures. This research studies the natural history of OI by following a large group of people over time to better understand how the disease progresses and varies by genetic cause. This observational study will follow up to 1000 participants with OI for up to five years. Participants aged 17 and younger will visit the study center every year, while adults 18 and older will come every other year. During visits, researchers will collect medical history, evaluate scoliosis and walking ability, assess dental health, and perform physical exams, lung function, hearing, and mobility tests. Imaging such as DEXA scans and X-rays of the spine and jaw will be taken, along with urine and blood samples. Participants will be monitored through yearly or biennial visits depending on age, completing questionnaires about quality of life and physical function. The study aims to track outcomes such as scoliosis development, vertebral fractures, oral health, and pregnancy effects in women with OI. Safety and progression of the disease will be followed for up to ten years, providing valuable long-term data on this rare bone disorder.
CONDITIONS
Brief Title
BBD Longitudinal Study of Osteogenesis Imperfecta
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Individuals diagnosed with Osteogenesis Imperfecta by molecular (DNA) analysis or with clinical history and radiographs strongly suggesting OI
- Participants aged 3 years and older for dental and scoliosis evaluations
- Patients with nonsense or frameshift mutations in COL1A1 or COL1A2 with clinical features of OI type I
- Females of reproductive age with known OI gene mutations contemplating pregnancy within 5 years or currently pregnant with recent bone density data
- Ability to attend scheduled follow-up visits every year if 17 or younger, or every other year if 18 or older
You will not qualify if you...
- Individuals unable to return for scheduled follow-up visits
- Individuals with skeletal dysplasias other than Osteogenesis Imperfecta
- Individuals with OI and a second genetic or syndromic diagnosis
- Use of bone-acting treatments like bisphosphonates within one year before enrollment for vertebral compression fracture component
- Conditions other than OI-HaploInsufficiency affecting muscle or bone development
- Mutations in final coding exons of COL1A1 or COL1A2 likely not causing haploinsufficiency
- Females who are peri-menopausal, menopausal, or had pregnancies with higher order multiples
- Subjects who refuse dental examination in dental and craniofacial component of the study
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 5 years
Participants are followed long-term to collect natural history data on osteogenesis imperfecta, including assessments of fractures, scoliosis, dental health, and effects of pregnancy where applicable.
Annual visits for participants 17 years and younger; visits every other year for participants 18 years and older
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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