data collection of patients with rare bone diseases

Conditions: Skeletal Dysplasia

Summary: rd-data is a retrospective and prospective data collection, finalized to care and research. 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 individuated in order to corroborate and integrate data from different resources and aspects of the diseases and to correlate genetic background and phenotypic outcomes, in order to better investigate diseases pathophysiology.

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 2020 to implement rd-data. 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 (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 (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. 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 20+ signs and symptoms 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.)

Eligibility criteria:
inclusion criteria: * all patients affected by rare diseases with predominantly skeletal involvement exclusion criteria: * any condition unrelated to rare diseases with predominantly skeletal involvement

Keywords: rare disease with predominantly skeletal involvement skeletal disorders data collection natural history study