Clinical trial NCT04982744: Registry of Li Fraumeni and Li Fraumeni Like Syndromes
Official title: Registry of Li Fraumeni and Li Fraumeni Like Syndromes - Registro Della Sindrome di Li Fraumeni Classica e Li Fraumeni Like
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Li-Fraumeni Syndrome
Li-Fraumeni-Like Syndrome
Keywords: Disease Registry
Natural History Study
Genotype-Phenotype Correlation
Lead sponsor: Istituto Ortopedico Rizzoli
Sponsor class: OTHER
First posted: 2021-07-29
Enrollment: 200
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Observational model: CASE_ONLY
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients affected by Li Fraumeni or Li Fraumeni Like syndromes

Brief 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.

Detailed description: 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

Primary outcomes:
measure: Natural History and Epidemiology
timeFrame: Since the disease is rare, the timeframe is strictly related to patients enrolment and consequently to amount of collected data. Considering the low prevalence of this disease, the time frame is up to 10 years.
Secondary outcomes:
measure: Genotype-Phenotype Correlation
timeFrame: The timeframe is strictly related to patients enrolment and consequently to amount of collected data. Considering the low prevalence of this disease, the time frame is up to 10 years.
Other outcomes:
measure: Inter- and intra-familial oncological characterization
timeFrame: The timeframe is strictly related to patients enrolment and consequently to amount of collected data. Considering the low prevalence of this disease, the time frame is up to 10 years.
Locations:
city: Bologna
country: Italy
facility: Irccs Istituto Ortopedico Rizzoli
state: Emilia Romagna
city: Bologna
country: Italy
facility: IRCCS Istituto Ortopedico Rizzoli
state: Emilia Romagna
Study officials:
affiliation: Istituto Ortopedico Rizzoli
name: Luca Sangiorgi, MSc
role: PRINCIPAL_INVESTIGATOR
References: