Registry of Li Fraumeni and Li Fraumeni Like Syndromes
NCT04982744 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 200
Last updated 2025-11-20
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
Sponsors & Collaborators
-
Istituto Ortopedico Rizzoli
lead OTHER
Principal Investigators
-
Luca Sangiorgi, MSc · Istituto Ortopedico Rizzoli
Eligibility
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2020-07-02
- Primary Completion
- 2030-07-31
- Completion
- 2045-07-31
Countries
- Italy
Study Locations
More Related Trials
-
Reading Disability in Children With NF1
NCT02397967 ·Status: COMPLETED ·Phase: NA
-
Functional Imaging and Reading Deficit in Children With NF1
NCT02422732 ·Status: COMPLETED ·Phase: NA
-
Restless Legs Syndrome in People With Neuromyelitis Optica Spectrum Disorder
NCT05573711 ·Status: UNKNOWN
-
Study of Cognitive and Emotional Disorders in Amyotrophic Lateral Sclerosis
NCT01530438 ·Status: UNKNOWN ·Phase: NA
-
Evaluation of Autonomic Function in Individuals With Cornelia de Lange Syndrome (CdLS)
NCT03113877 ·Status: TERMINATED
-
Autonomic Assessment in Patients With Restless Legs Syndrome
NCT04906486 ·Status: COMPLETED
-
Multidisciplinary Follow-up of Patients With Amyotrophic Lateral Sclerosis
NCT03536962 ·Status: UNKNOWN
-
Characterization of Anti-FGFR3 Antibodies
NCT02539329 ·Status: COMPLETED
-
Ophthalmological Disorders in Dominant Spinal-cerebellar Ataxias
NCT07019558 ·Status: RECRUITING ·Phase: NA
-
The Skin as a Window to the Central Nervous System in Frontotempolar Lombar Degeneration
NCT06490822 ·Status: RECRUITING ·Phase: NA
-
Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders
NCT03981276 ·Status: RECRUITING
-
Evaluation of Cognitive and Motor Neurological Disorders in the Short and Long Term After Surgery for the Removal of a Diffuse Low-grade Glioma of the Supplementary Motor Area
NCT05373394 ·Status: COMPLETED
-
Assessment of Brain Activity During Complex Fine Hand Movements: an fMRI Study
NCT03965338 ·Status: COMPLETED
-
Creation of a Register of Patients With Neonatal-onset Epileptic Encephalopathy
NCT04802135 ·Status: RECRUITING
-
Neuropsychological Impairment and Quality of Life in Neurofibromatosis Type 1
NCT01851135 ·Status: COMPLETED ·Phase: NA
-
RISCA : Prospective Study of Individuals at Risk for SCA1, SCA2, SCA3, SCA6, SCA7
NCT01037777 ·Status: COMPLETED
-
Role of the SMA During Unimanual and Bimanual Movements Preparation: the Mirror Movements Paradigm
NCT02073604 ·Status: COMPLETED ·Phase: NA
-
Evaluation of the Prevalence of Oculomotor Disorders in Patients With Radiologically Isolated Syndrome
NCT03636789 ·Status: COMPLETED ·Phase: NA
-
Synaptic Loss in Multiple System Atrophy
NCT05121012 ·Status: RECRUITING
-
Study on the Brain Network of Angelman Syndrome
NCT03358823 ·Status: COMPLETED
-
Dysfunctions and Plasticity Mechanisms of Motor System Assessed by Cortico-cortical and Cortico-muscular Coherence Analysis in Amyotrophic Lateral Sclerosis
NCT01959373 ·Status: SUSPENDED ·Phase: NA
-
Exploring Functional Paralysis with Advanced Magnetic Resonance Modalities
NCT05139732 ·Status: COMPLETED
-
Neuro-Orthopedic Registry of the University Hospital of Toulouse
NCT03329872 ·Status: COMPLETED
-
Longitudinal Analysis of Oral Communication in Friedreich's Ataxia
NCT04631224 ·Status: COMPLETED
-
Natural History Study for Patients With Angelman Syndrome
NCT06229769 ·Status: RECRUITING