Registry for Li Fraumeni and Li Fraumeni-Like Syndromes
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
This study is creating a registry to gather information from people with Li-Fraumeni and Li-Fraumeni-Like Syndromes to help understand these conditions better and improve diagnosis and research.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 200 (estimated) |
| Sex | All |
| Sponsor | Istituto Ortopedico Rizzoli Academic / other |
| Locations | 2 sites (Bologna, Emilia-Romagna and 1 other locations) |
| Trial ID | NCT04982744 on ClinicalTrials.gov |
What this trial studies
This registry collects and integrates data from patients with Li-Fraumeni and Li-Fraumeni-Like Syndromes to better understand the diseases' natural history and genetic correlations. It utilizes a web-accessible IT platform called GeDI, which complies with medical informatics standards to ensure efficient data management. The registry includes personal, clinical, genetic, and genealogical information, allowing for comprehensive analysis of the conditions. By organizing this data, the registry aims to simplify the diagnostic process and enhance research efforts.
Who should consider this trial
Good fit: Ideal candidates for this registry are individuals diagnosed with Li-Fraumeni or Li-Fraumeni-Like Syndromes.
Not a fit: Patients with conditions unrelated to Li-Fraumeni or Li-Fraumeni-Like Syndromes will not benefit from this registry.
Why it matters
Potential benefit: If successful, this registry could lead to improved understanding and management of Li-Fraumeni and Li-Fraumeni-Like Syndromes, ultimately benefiting patients through better diagnosis and treatment options.
How similar studies have performed: While the approach of using a comprehensive registry for rare diseases is established, the specific focus on Li-Fraumeni syndromes is relatively novel.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Bologna, Emilia-Romagna and 1 other locations
- Irccs Istituto Ortopedico Rizzoli — Bologna, Emilia-Romagna, Italy (Recruiting)
- IRCCS Istituto Ortopedico Rizzoli — Bologna, Emilia-Romagna, Italy (Enrolling_by_invitation)
Study contacts
- Principal investigator: Luca Sangiorgi, MSc — Istituto Ortopedico Rizzoli
- Study coordinator: Marina Mordenti, PhD
- Email: registri.malattierare@ior.it
- Phone: +39-0516366062
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.