Registry of Multiple Osteochondromas

NCT04133285 | Recruiting

• 1 other identifier: 21629/2013
• Study Type: observational
• Target: 10,000
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Multiple Osteochondromas

Keywords

Disease Registry; Natural History Study; Disease evolution; Genotype-Phenotype Correlation

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 (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

  25 years

Secondary Outcomes (1)

• Genotype-Phenotype Correlation among clinical features and molecular background

  25 years

Other Outcomes (1)

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

  25 years

Study Arms (1)

Multiple Osteochondromas patients

Patients affected by Multiple Osteochondromas. The Registry will include also data on fetuses (prenatal).

Eligibility Criteria

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

Study Population

Patients affected by Multiple Osteochondromas. The Registry will include also data on fetuses (prenatal).

You may qualify if:

• All Multiple Osteochondromas patients, including prenatal diagnosis of Multiple Osteochondromas

You may not qualify if:

• Any condition unrelated to Multiple Osteochondromas

Sponsors & Collaborators

• Luca Sangiorgi: lead

Study Sites (1)

Irccs Istituto Ortopedico Rizzoli

Bologna, Emilia-Romagna, 40136, Italy

RECRUITING

Related Publications (13)

• Mordenti M, Ferrari E, Pedrini E, Fabbri N, Campanacci L, Muselli M, Sangiorgi L. Validation of a new multiple osteochondromas classification through Switching Neural Networks. Am J Med Genet A. 2013 Mar;161A(3):556-60. doi: 10.1002/ajmg.a.35819. Epub 2013 Feb 8.

  PMID: 23401177 BACKGROUND

• Pedrini E, Jennes I, Tremosini M, Milanesi A, Mordenti M, Parra A, Sgariglia F, Zuntini M, Campanacci L, Fabbri N, Pignotti E, Wuyts W, Sangiorgi L. Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: identification of "protective" and "risk" factors. J Bone Joint Surg Am. 2011 Dec 21;93(24):2294-302. doi: 10.2106/JBJS.J.00949.

  PMID: 22258776 BACKGROUND

• Schmale GA, Conrad EU 3rd, Raskind WH. The natural history of hereditary multiple exostoses. J Bone Joint Surg Am. 1994 Jul;76(7):986-92. doi: 10.2106/00004623-199407000-00005.

  PMID: 8027127 BACKGROUND

• Pacifici M. Hereditary Multiple Exostoses: New Insights into Pathogenesis, Clinical Complications, and Potential Treatments. Curr Osteoporos Rep. 2017 Jun;15(3):142-152. doi: 10.1007/s11914-017-0355-2.

  PMID: 28466453 BACKGROUND

• Vink GR, White SJ, Gabelic S, Hogendoorn PC, Breuning MH, Bakker E. Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations. Eur J Hum Genet. 2005 Apr;13(4):470-4. doi: 10.1038/sj.ejhg.5201343.

  PMID: 15586175 BACKGROUND

• White SJ, Vink GR, Kriek M, Wuyts W, Schouten J, Bakker B, Breuning MH, den Dunnen JT. Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses. Hum Mutat. 2004 Jul;24(1):86-92. doi: 10.1002/humu.20054.

  PMID: 15221792 BACKGROUND

• Wuyts W, Van Hul W. Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. Hum Mutat. 2000;15(3):220-7. doi: 10.1002/(SICI)1098-1004(200003)15:33.0.CO;2-K.

  PMID: 10679937 BACKGROUND

• Darilek S, Wicklund C, Novy D, Scott A, Gambello M, Johnston D, Hecht J. Hereditary multiple exostosis and pain. J Pediatr Orthop. 2005 May-Jun;25(3):369-76. doi: 10.1097/01.bpo.0000150813.18673.ad.

  PMID: 15832158 BACKGROUND

• Cacciari E, Milani S, Balsamo A, Spada E, Bona G, Cavallo L, Cerutti F, Gargantini L, Greggio N, Tonini G, Cicognani A. Italian cross-sectional growth charts for height, weight and BMI (2 to 20 yr). J Endocrinol Invest. 2006 Jul-Aug;29(7):581-93. doi: 10.1007/BF03344156.

  PMID: 16957405 BACKGROUND

• Cacciari E, Milani S, Balsamo A, Dammacco F, De Luca F, Chiarelli F, Pasquino AM, Tonini G, Vanelli M. Italian cross-sectional growth charts for height, weight and BMI (6-20 y). Eur J Clin Nutr. 2002 Feb;56(2):171-80. doi: 10.1038/sj.ejcn.1601314.

  PMID: 11857051 BACKGROUND

• Porter DE, Lonie L, Fraser M, Dobson-Stone C, Porter JR, Monaco AP, Simpson AH. Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study. J Bone Joint Surg Br. 2004 Sep;86(7):1041-6. doi: 10.1302/0301-620x.86b7.14815.

  PMID: 15446535 BACKGROUND

• Goud AL, de Lange J, Scholtes VA, Bulstra SK, Ham SJ. Pain, physical and social functioning, and quality of life in individuals with multiple hereditary exostoses in The Netherlands: a national cohort study. J Bone Joint Surg Am. 2012 Jun 6;94(11):1013-20. doi: 10.2106/JBJS.K.00406.

  PMID: 22637207 BACKGROUND

• D'Ambrosi R, Ragone V, Caldarini C, Serra N, Usuelli FG, Facchini RM. The impact of hereditary multiple exostoses on quality of life, satisfaction, global health status, and pain. Arch Orthop Trauma Surg. 2017 Feb;137(2):209-215. doi: 10.1007/s00402-016-2608-4. Epub 2016 Dec 8.

  PMID: 27933382 BACKGROUND

Related Links

• Institutional webpage of Registries For Rare Hereditary Diseases

Biospecimen

Retention: SAMPLES WITH DNA

Whole peripheral blood, DNA, lymphocytes, cartilage tissues, bone tissues

MeSH Terms

Conditions

Exostoses, Multiple Hereditary

Condition Hierarchy (Ancestors)

Osteochondromatosis; Osteochondroma; Neoplasms, Bone Tissue; Neoplasms, Connective Tissue; Neoplasms, Connective and Soft Tissue; Neoplasms by Histologic Type; Neoplasms; Neoplastic Syndromes, Hereditary; Osteochondrodysplasias; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Exostoses; Hyperostosis; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

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, MSc

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 Department of Rare Skeletal Disorders

Study Record Dates

• First Submitted: October 14, 2019
• First Posted: October 21, 2019
• Study Start: June 28, 2013
• Primary Completion: July 1, 2018
• Study Completion (Estimated): December 1, 2032
• Last Updated: November 20, 2025

Record last verified: 2025-11

Locations

IT (1)