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
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 200
- 试验地点
- 2
- 主要终点
- Natural History and Epidemiology
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Other
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •All patients affected by Li Fraumeni or Li Fraumeni Like syndromes
排除标准
- •Any condition unrelated to Li Fraumeni or Li Fraumeni Like syndromes
结局指标
主要结局
Natural History and Epidemiology
时间窗: 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.
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.
次要结局
- 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.)
研究者
Luca Sangiorgi
Head of Department of Rare Skeletal Disorders
Istituto Ortopedico Rizzoli