An observational study in Ollier Disease and Maffucci Syndrome, 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 to care and research. 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 individuated in order 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.
The traditional method of collecting patient information is often chaotic, inconvenient and sometimes even unsafe, particularly when dealing with rare diseases. In 2017, 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 Ollier Disease and Maffucci Syndrome (ROM).
The ROM relies on an IT platform named Genotype-phenotype Data Integration platform - GeDI. This solution, realized by a collaboration among Medical Genetic Department and a local software-house (Dilaxia Spa), is a General Data Protection Regulation (GDPR)-compliant, multi-client, web-accessible system and it has been designed according to current medical informatics standards (Orphanet code, ICD-10, Human Genome Variants Society, Findability Accessibility Interoperability Reusability Principles). GeDI is continuously implemented to improve management of persons with Ollier Disease and Maffucci Syndrome and to help researchers in analyzing collected information. ROM is articulated in 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.
All patients affected by Ollier Disease and Maffucci Syndrome
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Exclusion Criteria:
The group comprises all patients affected by Ollier Disease and Maffucci Syndrome.
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 2. orthopedic and functional data: stature (cm), weight (kg), number and localization of sites affected by enchondromas, 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 in maternal or paternal line 6. treatment information: pharmacological, devices, supplements, and other treatments Clinical, orthopedic, surgical, treatment and functional features are updated at each follow up. Clinical reports, medical charts and imaging are the primary sources of data.
Time frame: 25 years
Genotype-Phenotype Correlation among clinical features and eventual molecular background
Despite the unclear genetic background of Ollier disease and Maffucci syndrome, the secondary outcome aims to correlate 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.
Time frame: 25 years
Longitudinal study of disease evolution (including prospective and retrospective data)
This outcome aims to investigate the evolution of Ollier Disease and Maffucci Syndrome during time. Main clinical features such as height (cm), number and localization of enchondromas, number and localization of deformities, number and localization of limitations, site/age at malignant transformation will be collected both retrospectively and prospectively in the entire population. Those data will be collected both retrospectively and prospectively for all patients via physical examination, clinical reports and imaging. An evaluation of these parameters will be performed at each visit to keep track on the progression of the clinical manifestations. Data will be collected to define annualized rate of new clinical manifestations related to age, using analyses such as Kaplan-Meyer and surviving rate.
Time frame: 25 years
Started Jan 2017 (actual). Primary completion is estimated for Jan 2032, 180 months after the start.
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Enchondromatosis