Long-term follow-up of individuals with Osteogenesis Imperfecta
Rare Diseases Clinical Research Network Brittle Bone Disease Consortium Longitudinal Study of Osteogenesis Imperfecta
This study is tracking 1,000 people with Osteogenesis Imperfecta over five years to see how the condition affects their bones, spine, and dental health, which will help improve future treatments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 1000 (estimated) |
| Sex | All |
| Sponsor | Baylor College of Medicine Academic / other |
| Locations | 12 sites (Phoenix, Arizona and 11 other locations) |
| Trial ID | NCT02432625 on ClinicalTrials.gov |
What this trial studies
This observational study aims to collect extensive natural history data on individuals diagnosed with Osteogenesis Imperfecta (OI), a rare brittle bone disorder. It will follow a cohort of 1000 participants over five years, assessing various clinical features, including the frequency of vertebral compression fractures, scoliosis, and dental health impacts on quality of life. Participants will undergo regular evaluations, including physical exams, dental assessments, and imaging tests. The study seeks to establish a foundation for future clinical studies by understanding the natural progression of OI.
Who should consider this trial
Good fit: Ideal candidates include individuals diagnosed with Osteogenesis Imperfecta through molecular analysis or those with suggestive clinical history and radiographs.
Not a fit: Patients with skeletal dysplasias other than Osteogenesis Imperfecta or those unable to attend follow-up visits may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding of Osteogenesis Imperfecta and lead to improved management strategies for patients.
How similar studies have performed: While this study focuses on the natural history of OI, similar longitudinal studies in rare diseases have shown promise in understanding disease progression and improving patient outcomes.
Eligibility criteria
Show full inclusion / exclusion criteria
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.
Where this trial is running
Phoenix, Arizona and 11 other locations
- Phoenix Children's Hospital — Phoenix, Arizona, United States (Recruiting)
- University of California Los Angeles — Los Angeles, California, United States (Recruiting)
- AI Dupont Hospital for Children — Wilmington, Delaware, United States (Recruiting)
- Children's National Medical Center — Washington D.C., District of Columbia, United States (Recruiting)
- University of South Florida — Tampa, Florida, United States (Recruiting)
- Kennedy Krieger Institute / Hugo W. Moser Research Institute — Baltimore, Maryland, United States (Recruiting)
- University of Nebraska Medical Center — Omaha, Nebraska, United States (Recruiting)
- Hospital for Special Surgery — New York, New York, United States (Recruiting)
- Oregon Health and Science University — Portland, Oregon, United States (Recruiting)
- Baylor College of Medicine — Houston, Texas, United States (Recruiting)
- Shriners Hospital for Children, Chicago / Marquette University — Milwaukee, Wisconsin, United States (Recruiting)
- Shriners Hospital for Children — Montreal, Quebec, Canada (Recruiting)
Study contacts
- Study coordinator: Dianne Nguyen
- Email: diannen@bcm.edu
- Phone: 713.798.6694
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.