NCT04134572|Recruiting
Registry of Ollier Disease and Maffucci Syndrome
ROM
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ROM
Sponsor study identifier
observational
400
1 country
1
Study Start
January 16, 2017
Actual (reported)Primary Completion
January 2032
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Study Completion
January 2032
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
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.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
January 2032
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
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Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
January 16, 2017
Actual (reported)October 14, 2019
Actual (reported)October 22, 2019
Actual (reported)January 2032
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
January 2032
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
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.
25 years
Genotype-Phenotype Correlation among clinical features and eventual molecular background
25 years
Longitudinal study of disease evolution (including prospective and retrospective data)
25 years
The group comprises all patients affected by Ollier Disease and Maffucci Syndrome.
All patients affected by Ollier Disease and Maffucci Syndrome
Irccs Istituto Ortopedico Rizzoli
Bologna, Emilia-Romagna, 40136, Italy
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.
Whole peripheral blood, DNA, lymphocytes, tissues
Luca Sangiorgi, MD, PhD, MS
Istituto Ortopedico Rizzoli
First Submitted
October 14, 2019
First Posted
October 22, 2019
Study Start
January 16, 2017
Actual (reported)Primary Completion
January 2032
EstimatedContact the study team to confirm eligibility.
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.
Planned date reported by the registry; this milestone is not confirmed as achieved.
Study Completion
January 2032
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Last Updated
November 20, 2025
Record last verified: 2025-11
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