Registry of Osteogenesis Imperfecta
ConditionOsteogenesis Imperfecta
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorLuca Sangiorgi
About this trial
ROI is a retrospective and prospective registry, finalized for care and research purposes. It is articulated in main sections - strongly related and mutually dependent on each other - corresponding to different data domains: personal information, clinical data, genetic data, genealogical data, surgeries, etc. This approach has been developed to corroborate and integrate data from different sources evaluating several aspects of diseases and to correlate genetic background and phenotypic outcomes, in order to better investigate diseases pathophysiology. Due to legal requirements, institutional directives and organizational issues, we are unable to include individuals residing outside Italy in the registry at this time. We are currently engaged in the preparation of a recruitment process for individuals residing outside Italy.
Eligibility criteria
This trial accepts healthy volunteersQualifiers
All Osteogenesis Imperfecta patients, including prenatal and fetal diagnosis of Osteogenesis Imperfecta
Disqualifiers
Any condition unrelated to Osteogenesis Imperfecta
Trial population
Patients affected by Osteogenesis Imperfecta. The Registry will include also data on foetuses (prenatal and abortion).
Trial design
Design model
Cohort
Time perspective
Other
Treatments tested in this trial
bisphosphonates
DrugSince this is an observational study, the investigators collect general information on bisphosphonates treatment/impact
Treatment groups
5,000 Participants
are divided into 1 treatment groupGroup A: Osteogenesis Imperfecta patients1 intervention
Trial outcomes
Primary outcomes
1
Natural History and Epidemiology
To maintain an established registry in order to assess epidemiology and natural history. 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.), family history (inheritance in maternal or paternal line, etc.) and treatment information (pharmacological, devices, supplements, and other treatments). Clinical, orthopedic, surgical, treatment and functional features are updated at each follow up. Clinical reports, medical charts and imaging are the primary source of data.
Time frame
25 yearsSecondary outcomes
1
Genotype-Phenotype Correlation
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.
Time frame
25 yearsOther outcomes
1
Disease evolution
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 track on the progression of clinical manifestations.
Time frame
25 yearsSponsors and contacts
Click on the lead sponsor to view all of their trials.
Luca Sangiorgi
Lead sponsor
Istituto Ortopedico Rizzoli
Sponsor institution
Source ClinicalTrials.gov