Registry of Li Fraumeni and Li Fraumeni Like Syndromes
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorIstituto Ortopedico Rizzoli
About this trial
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
All patients affected by Li Fraumeni or Li Fraumeni Like syndromes
Disqualifiers
Any condition unrelated to Li Fraumeni or Li Fraumeni Like syndromes
Trial population
Patients affected by Li Fraumeni or Li Fraumeni Like syndromes
Trial design
Design model
Case-only
Time perspective
Other
Treatments tested in this trial
Not listed
Trial groups
200 Participants
are grouped into 1 trial groupGroup A: Patients affected by Li Fraumeni and Li Fraumeni Like syndromes
Trial outcomes
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.
Time frame
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 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.
Time frame
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
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.
Time frame
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.Sponsors and contacts
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Source ClinicalTrials.gov