Registry of Ollier Disease and Maffucci Syndrome

NCT04134572 | Recruiting

• 1 other identifier: 378/2017
• Study Type: observational
• Target: 400
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Ollier Disease; Maffucci Syndrome

Keywords

Disease Registry; Natural History Study; Disease Evolution

Outcome Measures

Primary Outcomes (1)

• 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

Secondary Outcomes (1)

• Genotype-Phenotype Correlation among clinical features and eventual molecular background

  25 years

Other Outcomes (1)

• Longitudinal study of disease evolution (including prospective and retrospective data)

  25 years

Study Arms (1)

Ollier Disease and Maffucci Syndrome patients

The group comprises all patients affected by Ollier Disease and Maffucci Syndrome.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

All patients affected by Ollier Disease and Maffucci Syndrome

You may qualify if:

• All patients affected by Ollier Disease and Maffucci Syndrome

You may not qualify if:

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

Sponsors & Collaborators

• Luca Sangiorgi: lead

Study Sites (1)

Irccs Istituto Ortopedico Rizzoli

Bologna, Emilia-Romagna, 40136, Italy

RECRUITING

Related Publications (8)

• 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.

  PMID: 7792223 BACKGROUND

• 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.

  PMID: 22791316 BACKGROUND

• 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.

  PMID: 31240473 BACKGROUND

• Pansuriya TC, Kroon HM, Bovee JV. Enchondromatosis: insights on the different subtypes. Int J Clin Exp Pathol. 2010 Jun 26;3(6):557-69.

  PMID: 20661403 BACKGROUND

• 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.

  PMID: 24645839 BACKGROUND

• 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.

  PMID: 21235737 BACKGROUND

• Silve C, Juppner H. Ollier disease. Orphanet J Rare Dis. 2006 Sep 22;1:37. doi: 10.1186/1750-1172-1-37.

  PMID: 16995932 BACKGROUND

• Tsao YP, Tsai CY, Chen WS. Maffucci Syndrome. J Rheumatol. 2015 Dec;42(12):2434-5. doi: 10.3899/jrheum.150216. No abstract available.

  PMID: 26628708 BACKGROUND

Related Links

• Institutional webpage of Registries For Rare Hereditary Diseases

Biospecimen

Retention: SAMPLES WITH DNA

Whole peripheral blood, DNA, lymphocytes, tissues

MeSH Terms

Conditions

Enchondromatosis

Condition Hierarchy (Ancestors)

Osteochondrodysplasias; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases

Study Officials

• Luca Sangiorgi, MD, PhD, MS

  Istituto Ortopedico Rizzoli

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Marina Mordenti, PhD

CONTACT

+39 05 6366062; registri.malattierare@ior.it

Marcella Lanza, PhD

CONTACT

+39 05 6366169; registri.malattierare@ior.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Target Duration: 25 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Head of Departement of Rare Skeletal Disorders

Study Record Dates

• First Submitted: October 14, 2019
• First Posted: October 22, 2019
• Study Start: January 16, 2017
• Primary Completion (Estimated): January 1, 2032
• Study Completion (Estimated): January 1, 2032
• Last Updated: November 20, 2025

Record last verified: 2025-11

Locations

IT (1)