Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
1000 participants
OBSERVATIONAL
2020-10-10
2045-10-09
Brief Summary
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This approach has been developed to corroborate and integrate data from different sources and evaluating several aspects of the 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.
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Detailed Description
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The RD-DATA relies on an IT platform named Genotype-phenotype Data Integration platform (GeDI).This solution, realized by a collaboration among Rare Skeletal Disorders Department and a local software-house (Dilaxia Spa) 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 (International Disease Classification), Human Genome Variants Society). GeDI is continuously implemented to improve management of persons with rare conditions with predominantly skeletal involvement and to help researchers in analysing collected information. RD-DATA 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; Diagnostic Process: the diagnosis, the status (affected, suspected, etc.), age at diagnosis, comorbidities, allergies, etc.; Genogram: a tool for designing family transmission of the disease, alongside information on the diseases status of all relatives included.
Clinical events: it records a long list of signs and symptoms as well as several additional items to describe the disease Genetic Analysis and Alteration: including technique, sample information, analysis duration, 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, orthopedic, rehabilitation, pediatric, etc.), the date of the visit, treatment, prescription, imaging, etc.
Treatments: this section comprises information of a wide range of treatments including pharmacological, devices, supplements, and other treatments such as psychological, nutritional, etc.; Documents: this repository allow us to store all types of documents (radiological reports, imaging, consents, clinical reports, etc.); Consents: this section provides a comprehensive overview of all consents collected, including the collection date; Samples: this section includes information on the samples, like the type, date of collection, etc.; PROs: this section collects information on patients reported outcomes such as the quality of life or ABC scale.
Conditions
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Study Design
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COHORT
OTHER
Study Groups
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Rare diseases with predominantly skeletal involvement
The group comprises all patients affected by rare diseases with predominantly skeletal involvement
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
Exclusion Criteria
ALL
No
Sponsors
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Luca Sangiorgi
OTHER
Responsible Party
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Luca Sangiorgi
Head of Department of Rare Skeletal Disorders
Principal Investigators
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Luca Sangiorgi, MD, PhD
Role: PRINCIPAL_INVESTIGATOR
IRCCS istituto Ortopedico Rizzoli
Locations
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Irccs Istituto Ortopedico Rizzoli
Bologna, Emilia-Romagna, Italy
Countries
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Central Contacts
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Facility Contacts
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Related Links
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Rare Skeletal Disorders Department website
Other Identifiers
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792/2020/Oss/IOR
Identifier Type: -
Identifier Source: org_study_id
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