An observational study in Multiple Osteochondromas, sponsored by Luca Sangiorgi. Recruiting at 1 site in Italy. Per ClinicalTrials.gov, last updated 2025-11-20.
Sponsored by Luca Sangiorgi · Observational
REM 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 sources evaluating several aspects of diseases and to correlate genetic background and phenotypic outcomes, in order to better investigate disease 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.
The traditional method of collecting patient information is often chaotic, inconvenient, and sometimes even unsafe, particularly when dealing with rare diseases. In 2013, 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 Multiple Osteochondromas (REM).
The REM relies on an IT platform named Genotype-phenotype Data Integration platform - GeDI. This solution was developed through a collaboration between Rare Skeletal Disease Department and a local software company (Dilaxia S.p.A.) and is General Data Protection Regulation (GDPR)-compliant, multi-client and web-accessible. It has been designed according to current medical informatics standards, including the Orphanet code, the International Classification of Diseases (ICD), and the Human Genome Variants Society, aiming to follow Findability, Accessibility, Interoperability, Reusability (FAIR) principles. GeDI is continuously being implemented to improve the management of people with Multiple Osteochondromas and to assist researchers in analyzing the information collected. REM is divided into the following main sections:
Luca Sangiorgi is the lead sponsor of 5 studies on the registry; 5 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Patients affected by Multiple Osteochondromas. The Registry will include also data on fetuses (prenatal).
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Exclusion Criteria:
Patients affected by Multiple Osteochondromas. The Registry will include also data on fetuses (prenatal).
Natural History and Epidemiology in terms of clinical, genetic and functional evaluation
To maintain an established registry in order to assess epidemiology and natural history. Collection of: 1. physical examinations data: assessment of severity of the disease (according to Mordenti et al classification) 2. orthopedic and functional data: stature (cm), weight (kg), number and localization of sites affected, site of malignant transformation, definition of deformities (localization and number), definition of limitations (localization and number) 3. surgical procedures: type, number and site of surgeries disease-related and age at surgeries 4. genetics background: target gene, type of mutation, type of variant detected, clinical significance 5. family history: inheritance 6. treatment information: pharmacological, devices, supplements, and other treatments All the features are updated at each follow up. Clinical reports, medical charts, genetic report and imaging are the primary sources of data
Time frame: 25 years
Genotype-Phenotype Correlation among clinical features and molecular background
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.
Time frame: 25 years
Longitudinal study of disease evolution (including prospective and retrospective data)
This outcome aims to investigate the evolution of Multiple Osteochondromas during time. This will be evaluated within the families and among the families. Main clinical features, such as height (cm), number and localization of osteochondromas, number and localization of deformities, number and localization of limitations will be collected both retrospectively and prospectively in the entire population, with a particular attention to the pediatric population. Primarily in adult population, disease evolution is focused on malignant transformation. An evaluation of these parameters will be performed at each visit to keep track on the progression of clinical manifestations.
Time frame: 25 years
Ran from Jun 2013 to primary completion in Jul 2018, 61 months.
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Exostoses, Multiple Hereditary