Registry of Ollier Disease and Maffucci Syndrome (ROM)

Registry of Ollier Disease and Maffucci Syndrome That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Treatment, Quality of Life Data. Data is Linked to Patients' Biological Samples, When Available

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.

Study Overview

• Status: Recruiting
• Conditions: Ollier Disease; Maffucci Syndrome

Detailed Description

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:

• 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 of Ollier Disease and Maffucci Syndrome 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.

• Study Type: Observational
• Enrollment (Estimated): 400

Contacts and Locations

• Study Contact: Name: Marina Mordenti, PhD; Phone Number: +39 05 6366062; Email: registri.malattierare@ior.it
• Study Contact Backup: Name: Marcella Lanza, PhD; Phone Number: +39 05 6366169; Email: registri.malattierare@ior.it

Study Locations

• Italy
  • Emilia-Romagna
    • Bologna, Emilia-Romagna, Italy, 40136
      • Recruiting
      • IRCCS Istituto Ortopedico Rizzoli
      • Contact: Marina Mordenti, PhD; Phone Number: +39 051 6366062; Email: registri.malattierare@ior.it
      • Contact: Marcella Lanza, PhD; Phone Number: +39 051 63666169; Email: registri.malattierare@ior.it

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Probability Sample

Study Population

All patients affected by Ollier Disease and Maffucci Syndrome

Description

Inclusion Criteria:

• All patients affected by Ollier Disease and Maffucci Syndrome

Exclusion Criteria:

• Any condition unrelated to Ollier Disease and/or Maffucci Syndrome

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Other

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Ollier Disease and Maffucci Syndrome patients; The group comprises all patients affected by Ollier Disease and Maffucci Syndrome.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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: physical examinations data: assessment of severity of the disease; 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); surgical procedures: type, number and site of surgeries disease-related and age at surgeries; genetics background: target gene, type of mutation, type of variant detected, clinical significance; family history: inheritance in maternal or paternal line; 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.	25 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	25 years

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	25 years

Collaborators and Investigators

• Sponsor: Luca Sangiorgi
• Investigators: Principal Investigator: Luca Sangiorgi, MD, PhD, MS, Istituto Ortopedico Rizzoli

Publications and helpful links

General Publications

• Bertucci V, Krafchik BR. What syndrome is this? Ollier disease + vascular lesions: Maffucci syndrome. Pediatr Dermatol. 1995 Mar;12(1):55-8. doi: 10.1111/j.1525-1470.1995.tb00127.x. No abstract available.
• Superti-Furga A, Spranger J, Nishimura G. Enchondromatosis revisited: new classification with molecular basis. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):154-64. doi: 10.1002/ajmg.c.31331. Epub 2012 Jul 12.
• Saiji E, Pause FG, Lascombes P, Cerato Biderbost C, Marq NL, Berczy M, Merlini L, Rougemont AL. IDH1 immunohistochemistry reactivity and mosaic IDH1 or IDH2 somatic mutations in pediatric sporadic enchondroma and enchondromatosis. Virchows Arch. 2019 Nov;475(5):625-636. doi: 10.1007/s00428-019-02606-9. Epub 2019 Jun 25.
• Pansuriya TC, Kroon HM, Bovee JV. Enchondromatosis: insights on the different subtypes. Int J Clin Exp Pathol. 2010 Jun 26;3(6):557-69.
• Herget GW, Strohm P, Rottenburger C, Kontny U, Krauss T, Bohm J, Sudkamp N, Uhl M. Insights into Enchondroma, Enchondromatosis and the risk of secondary Chondrosarcoma. Review of the literature with an emphasis on the clinical behaviour, radiology, malignant transformation and the follow up. Neoplasma. 2014;61(4):365-78. doi: 10.4149/neo_2014_046.
• Pansuriya TC, Oosting J, Krenacs T, Taminiau AH, Verdegaal SH, Sangiorgi L, Sciot R, Hogendoorn PC, Szuhai K, Bovee JV. Genome-wide analysis of Ollier disease: Is it all in the genes? Orphanet J Rare Dis. 2011 Jan 14;6:2. doi: 10.1186/1750-1172-6-2.
• Silve C, Juppner H. Ollier disease. Orphanet J Rare Dis. 2006 Sep 22;1:37. doi: 10.1186/1750-1172-1-37.
• Tsao YP, Tsai CY, Chen WS. Maffucci Syndrome. J Rheumatol. 2015 Dec;42(12):2434-5. doi: 10.3899/jrheum.150216. No abstract available.

Helpful Links

• Institutional webpage of Registries For Rare Hereditary Diseases

Study record dates

Study Major Dates

• Study Start (Actual): January 16, 2017
• Primary Completion (Estimated): January 1, 2032
• Study Completion (Estimated): January 1, 2032

Study Registration Dates

• First Submitted: October 14, 2019
• First Submitted That Met QC Criteria: October 18, 2019
• First Posted (Actual): October 22, 2019

Study Record Updates

• Last Update Posted (Actual): November 20, 2025
• Last Update Submitted That Met QC Criteria: November 17, 2025
• Last Verified: November 1, 2025

More Information

Terms related to this study

• Keywords: Natural History Study; Disease Registry; Disease Evolution
• Additional Relevant MeSH Terms: Bone Diseases; Musculoskeletal Diseases; Osteochondrodysplasias; Bone Diseases, Developmental; Enchondromatosis
• Other Study ID Numbers: 378/2017

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No