Registry of Osteogenesis Imperfecta (ROI)
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|ClinicalTrials.gov Identifier: NCT04115774|
Recruitment Status : Enrolling by invitation
First Posted : October 4, 2019
Last Update Posted : October 4, 2019
|Condition or disease||Intervention/treatment|
|Osteogenesis Imperfecta||Drug: bisphosphonates|
The common way to collect patient information is frequently chaotic and inconvenient (sometimes even unsafe), particularly when dealing with rare diseases. The need to simplify the diagnostic process and to overcome the difficulties of data storage and analysis, suggested in 2013 to implement the Registry of Osteogenesis Imperfecta (ROI).
The ROI relies on an IT Platform named Genotype-phenotype Data Integration platform -GeDI.This solution, realized by a collaboration among Medical Genetic Department and a local software-house (NSI - Nier IT Solution), is a General Data Protection Regulation (GDPR)-compliant, multi-client, web-accessible system and it has been designed according to current medical informatics standards (Orphanet code, ICD-10, Human Genome Variants Society, Findability Accessibility Interoperability Reusability Principles). GeDI is continuously implemented to improve management of persons with Osteogenesis Imperfecta and to help researchers in analysing collected information. ROI is articulated in main sections:
- Personal data: it comprises general information, birth details and residence data
- Patient data: including the patients internal code, the hospital code and other details on patients
- Diagnosis: the diagnosis, the status (affected, suspect, etc.), age at diagnosis, comorbidities, allergies, etc.
- Genogram: a tool to design family transmission of the disease, flanked by info on diseases status of all included relatives
- Clinical events: records 23 signs and symptoms of Osteogenesis Imperfecta (representing the main Osteogenesis Imperfecta features) and 12 additional items to describe the disease
- Genetic Analysis and Alteration: including technique, sample information, duration of analysis, etc. In addition, this section comprises detailed information on detected pathological variants (gene, international reference, DNA change, Protein change, genomic position, etc.)
- Visits: it includes the typology of the visit (genetic, orthopaedic, rehabilitation, paediatric, etc.), the date of the visit, treatment, prescription, imaging, etc.
- Surgeries: this section contains information on the surgeries type, the age of the patients, the site/localization of the procedures, etc.
- Documents: this repository is allowed to store all type of documents (radiological reports, imaging, consents, clinical reports, etc.)
- Consents: this section comprises a complete overview of all collected consents, including the date of collection.
- Samples: it comprises the type of samples (DNA, tissue, whole peripheral blood, etc.)
|Study Type :||Observational [Patient Registry]|
|Estimated Enrollment :||5000 participants|
|Target Follow-Up Duration:||15 Years|
|Official Title:||Registry of Osteogenesis Imperfecta That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Quality of Life Data. Data Are Linked to Patients Biological Sample|
|Actual Study Start Date :||June 28, 2013|
|Actual Primary Completion Date :||July 2018|
|Estimated Study Completion Date :||February 29, 2032|
Osteogenesis Imperfecta patients
The group comprises all patients affected by Osteogenesis Imperfecta, including prenatal and fetal diagnosis of Osteogenesis Imperfecta
Since this is an observational study, the investigators collect general information on bisphosphonates treatment/impact
- Natural History and Epidemiology [ Time Frame: 25 years ]
To maintain an established registry in order to assess epidemiology and natural history (such as incidence, prevalence, etc.). Collection of physical examinations (severity of the disease), orthopaedics and functionals data (number of fractures, fracture sites, deafness, etc.), genetics background (target gene, type of mutation, etc.) and family history (inheritance in maternal or paternal line, etc.).
Clinical, orthopaedic and functional features are updated at each follow up. Clinical reports, medical charts and imaging are the primary source of data.
- Genotype-Phenotype Correlation [ Time Frame: 25 years ]The secondary outcome comprises the correlation between genotype and phenotype. This includes, but is not limited to clinical features and genetic background. This will be pursued using the information collected during visits and follow-ups and the genetic information resulting from molecular investigations.
- Disease evolution [ Time Frame: 25 years ]
This outcome aims to investigate the evolution of Osteogenesis Imperfecta during time. This will be evaluated within the families and among the families.
Main clinical features, such as height, number of fractures, bone evaluations, will be collected both retrospectively and prospectively. An evaluation of these parameters will be performed at each visit to keep trace on the progression of the clinical manifestations.
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04115774
|Irccs Istituto Ortopedico Rizzoli|
|Bologna, Emilia Romagna, Italy, 40136|
|Principal Investigator:||Luca Sangiorgi, PhD||Istituto Ortopedico Rizzoli|