Structured Collection of Data on Rare Diseases with Predominant Skeletal Involvement

What this Trial Is About

Researchers are collecting detailed information from patients with rare diseases that mainly affect the bones. This project, called RD-DATA, gathers both past and current data to support medical care and research. It aims to connect genetic information with how the diseases show up in patients to better understand these rare conditions. At present, only individuals living in Italy can be included due to legal and organizational reasons, but plans are underway to expand recruitment outside Italy. The data collection uses a specialized IT platform called Genotype-phenotype Data Integration platform (GeDI), which is secure and follows privacy laws. This platform organizes many types of information including personal details, diagnostic results, family disease history, clinical events, genetic test results, visits, treatments, documents, consents, biological samples, and patient-reported outcomes like quality of life. This structured approach helps simplify diagnosis and supports researchers analyzing the collected data. Participants contribute by allowing their medical and genetic information to be recorded over time. Researchers review this information, including clinical, genetic, and functional evaluations, to understand the natural history and epidemiology of these rare skeletal diseases. They also study how genetic variations relate to clinical features over a long period. The study involves ongoing data collection with no fixed end date, allowing continuous monitoring and analysis as more patient data becomes available.

Data Collection of Patients With Rare Bone Diseases