registry of li fraumeni and li fraumeni like syndromes

Conditions: Li-Fraumeni Syndrome; Li-Fraumeni-Like Syndrome

Summary: relf is a retrospective and prospective registry, 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 the registry of li fraumeni and li fraumeni like syndromes (relf) the relfrelies on an it platform named gedi (genotype-phenotype data integration platform). this solution, realized by a collaboration among department of rare skeletal disorders and a local software-house (nsi - nier it solution), is a gdpr-compliant, multi-client, web-accessible system and it has been designed according to current medical informatics standards (orphacode, icd-10, human genome variants society, findability accessibility interoperability reusability -fair- 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: ø personal data: it comprises general information, birth details and residence data ø patient data: including the patients internal code, the hospital code and other details on patients ø diagnosis: the diagnosis, the status (affected, suspect, etc.), age at diagnosis, comorbidities, allergies, etc. ø genogram: a tool to design family transmission of the disease, flanked by info on diseases status of all included relatives. ø clinical events: records several signs and symptoms of li fraumeni and li fraumeni like syndromes (representing the main disease features) and 12 additional items to describe the disease ø 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.). ø visits: it includes the typology of the visit (genetic, orthopaedic, rehabilitation, paediatric, etc.), the date of the visit, treatment, prescription, imaging, etc. ø surgeries: this section contains information on the surgeries type, the age of the patients, the site/localization of the procedures, etc. ø documents: this repository is allowed to store all type of documents (radiological reports, imaging, consents, clinical reports, etc.). ø consents: this section comprises a complete overview of all collected consents, including the date of collection. ø samples: it comprises the type of samples (dna, tissue, whole peripheral blood, etc.)

Eligibility criteria:
inclusion criteria: * all patients affected by li fraumeni or li fraumeni like syndromes exclusion criteria: * any condition unrelated to li fraumeni or li fraumeni like syndromes

Keywords: disease registry natural history study genotype-phenotype correlation