Registry of Li Fraumeni and Li Fraumeni Like Syndromes (ReLF)

Registry of Li Fraumeni and Li Fraumeni Like Syndromes That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Treatment, Quality of Life Data. Data is Linked to Patients' Biological Samples, When Available

ReLF 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 resources and 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.

Study Overview

• Status: Recruiting
• Conditions: Li-Fraumeni Syndrome; Li-Fraumeni-Like Syndrome

Detailed Description

The traditional method of collecting patient information is often chaotic, inconvenient, and sometimes even unsafe, particularly when dealing with rare diseases. In 2020, the need to simplify the diagnostic process and to overcome the difficulties of data storage and analysis, led to the suggestion of implementing the Registry of Li Fraumeni and Li Fraumeni Like syndromes (ReLF).

The ReLF relies 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 (Dilaxia Spa), 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 Li Fraumeni and Li Fraumeni Like Syndromes and to help researchers in analyzing collected information. ReLF 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 patient details;
• Diagnostic Process: the diagnosis, the status (affected, suspected, etc.), age at diagnosis, comorbidities, allergies, etc.;
• Genogram: a tool for designing the family transmission of the disease, alongside information on the disease 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 analytical technique, sample information, analysis duration, etc. This section also comprises detailed information on any detected pathological variants (e.g. gene, international reference, DNA change, protein change, genomic position, etc.);
• Visits: this section includes visit type (genetic, orthopedic, rehabilitation, pediatric, etc.), the date of the visit, prescriptions, 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.;
• Surgeries: this section contains information on the type of surgeries, the age of the patients, the site/localization of the procedures, 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.

• Study Type: Observational
• Enrollment (Estimated): 200

Contacts and Locations

• Study Contact: Name: Marina Mordenti, PhD; Phone Number: +39-0516366062; Email: registri.malattierare@ior.it
• Study Contact Backup: Name: Marcella Lanza, PhD; Phone Number: +39-0516366169; Email: registri.malattierare@ior.it

Study Locations

• Italy
  • Emilia-Romagna
    • Bologna, Emilia-Romagna, Italy, 40136
      • Recruiting
      • IRCCS Istituto Ortopedico Rizzoli
      • Contact: Marina Mordenti, PhD; Phone Number: +39 051 6366062; Email: registri.malattierare@ior.it
      • Contact: Marcella Lanza, PhD; Phone Number: +39 051 6366169; Email: registri.malattierare@ior.it
    • Bologna, Emilia-Romagna, Italy, 40136
      • Enrolling by invitation
      • IRCCS Istituto Ortopedico Rizzoli

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: N/A

• Sampling Method: Non-Probability Sample

Study Population

Patients affected by Li Fraumeni or Li Fraumeni Like syndromes

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Other

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Patients affected by Li Fraumeni and Li Fraumeni Like syndromes; The group comprises all patients affected by Li Fraumeni and Li Fraumeni Like syndromes

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Natural History and Epidemiology	Assessment of epidemiological information. Anthropometric data: weight in kg, height in cm. In addition, weight and height will be combined to report BMI as kg/m^2 Clinical details of the tumor: site of the lesion, number of recurrence(s), presence/absence of metastasis, size of lesion in cm^3 Additional clinical data: type of surgery, age at surgery in years are updated at each follow up and retrospectively (when possible). Clinical reports, medical charts and imaging are the primary source of data.	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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
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. Collection of genetics background (target gene, type of mutation, clinical significance are reported following HGVS nomenclature) and family history (in terms of inheritance by maternal or paternal line). Anthropometric data (weight in kg, height in cm. In addition, weight and height will be combined to report BMI in kg/m^2), clinical details (site of the lesion, recurrence, metastasis), orthopedic and functional features are updated at each follow up.	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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
Inter- and intra-familial oncological characterization	This outcome aims to investigate similarities and difference of tumoral manifestation (site of the tumor, type of tumor, age at onset, grade of lesion) in patients affected by Li Fraumeni or Li Fraumeni Like syndromes within the families and among the families.	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.

Collaborators and Investigators

• Sponsor: Istituto Ortopedico Rizzoli
• Investigators: Principal Investigator: Luca Sangiorgi, MSc, Istituto Ortopedico Rizzoli

Study record dates

Study Major Dates

• Study Start (Actual): July 2, 2020
• Primary Completion (Estimated): July 1, 2030
• Study Completion (Estimated): July 1, 2045

Study Registration Dates

• First Submitted: June 30, 2021
• First Submitted That Met QC Criteria: July 27, 2021
• First Posted (Actual): July 29, 2021

Study Record Updates

• Last Update Posted (Actual): November 20, 2025
• Last Update Submitted That Met QC Criteria: November 17, 2025
• Last Verified: November 1, 2025

More Information

Terms related to this study

• Keywords: Natural History Study; Disease Registry; Genotype-Phenotype Correlation; Disease Evolution
• Additional Relevant MeSH Terms: Neoplasms; Genetic Diseases, Inborn; Metabolic Diseases; Neoplastic Syndromes, Hereditary; DNA Repair-Deficiency Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Li-Fraumeni Syndrome; Li-Fraumeni-Like Syndrome
• Other Study ID Numbers: 579/2020/Oss/IOR

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No