Registry of Li Fraumeni and Li Fraumeni Like Syndromes

NCT04982744 | Recruiting DMC

• 1 other identifier: 579/2020/Oss/IOR
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 2

Brief Summary

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.

Conditions

Li-Fraumeni Syndrome; Li-Fraumeni-Like Syndrome

Keywords

Disease Registry; Natural History Study; Genotype-Phenotype Correlation; Disease Evolution

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (1)

• Genotype-Phenotype Correlation

  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 (1)

• Inter- and intra-familial oncological characterization

  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.

Study Arms (1)

Patients affected by Li Fraumeni and Li Fraumeni Like syndromes

The group comprises all patients affected by Li Fraumeni and Li Fraumeni Like syndromes

Eligibility Criteria

• Sex: all
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients affected by Li Fraumeni or Li Fraumeni Like syndromes

You may qualify if:

• All patients affected by Li Fraumeni or Li Fraumeni Like syndromes

You may not qualify if:

• Any condition unrelated to Li Fraumeni or Li Fraumeni Like syndromes

Sponsors & Collaborators

• Istituto Ortopedico Rizzoli: lead

Study Sites (2)

Irccs Istituto Ortopedico Rizzoli

Bologna, Emilia-Romagna, 40136, Italy

RECRUITING

IRCCS Istituto Ortopedico Rizzoli

Bologna, Emilia-Romagna, 40136, Italy

ENROLLING BY INVITATION

MeSH Terms

Conditions

Li-Fraumeni Syndrome; Li-Fraumeni-Like Syndrome

Condition Hierarchy (Ancestors)

Neoplastic Syndromes, Hereditary; Neoplasms; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Luca Sangiorgi, MSc

  Istituto Ortopedico Rizzoli

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Marina Mordenti, PhD

CONTACT

+39-0516366062; registri.malattierare@ior.it

Marcella Lanza, PhD

CONTACT

+39-0516366169; registri.malattierare@ior.it

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: OTHER
• Target Duration: 10 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Head of Department of Rare Skeletal Disorders

Study Record Dates

• First Submitted: June 30, 2021
• First Posted: July 29, 2021
• Study Start: July 2, 2020
• Primary Completion (Estimated): July 1, 2030
• Study Completion (Estimated): July 1, 2045
• Last Updated: November 20, 2025

Record last verified: 2025-11

Locations

IT (2)