Registry for Osteogenesis Imperfecta
Registry of Osteogenesis Imperfecta That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Quality of Life Data. Data is Linked to Patients Biological Samples, When Available
This study is creating a registry to gather information from people with Osteogenesis Imperfecta to better understand the condition and improve how it's managed and treated.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 5000 (estimated) |
| Sex | All |
| Sponsor | Istituto Ortopedico Rizzoli Academic / other |
| Locations | 1 site (Bologna, Emilia-Romagna) |
| Trial ID | NCT04115774 on ClinicalTrials.gov |
What this trial studies
This registry collects and analyzes data from patients with Osteogenesis Imperfecta to better understand the disease's natural history and genetic factors. It utilizes a web-based platform called GeDI to integrate personal, clinical, genetic, and genealogical information in a structured manner. The aim is to simplify data collection and improve the management of patients while facilitating research into the disease's pathophysiology. By correlating genotype and phenotype, the registry seeks to enhance diagnostic processes and treatment strategies.
Who should consider this trial
Good fit: Ideal candidates for this registry include all patients diagnosed with Osteogenesis Imperfecta, including those with prenatal and fetal diagnoses.
Not a fit: Patients with conditions unrelated to Osteogenesis Imperfecta will not benefit from participation in this registry.
Why it matters
Potential benefit: If successful, this registry could lead to improved understanding and management of Osteogenesis Imperfecta, ultimately enhancing patient care.
How similar studies have performed: Other registries focusing on rare diseases have shown success in improving patient outcomes and advancing research, indicating a positive precedent for this approach.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * All Osteogenesis Imperfecta patients, including prenatal and fetal diagnosis of Osteogenesis Imperfecta Exclusion Criteria: * Any condition unrelated to Osteogenesis Imperfecta
Where this trial is running
Bologna, Emilia-Romagna
- Irccs Istituto Ortopedico Rizzoli — Bologna, Emilia-Romagna, Italy (Recruiting)
Study contacts
- Principal investigator: Luca Sangiorgi, PhD — Istituto Ortopedico Rizzoli
- Study coordinator: Marina Mordenti, PhD
- Email: registri.malattierare@ior.it
- Phone: +39 05 6366062
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.