Registry of Multiple Osteochondromas

Официальное название

Registry of Multiple Osteochondromas That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Treatment, Quality of Life Data. Data is Linked to Patients' Biological Samples, When Available.

Обзор

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.

Подробное описание

The traditional method of collecting patient information is often chaotic, inconvenient, and sometimes even unsafe, particularly when dealing with rare diseases. In 2013, 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 Multiple Osteochondromas (REM).

The REM relies on an IT platform named Genotype-phenotype Data Integration platform - GeDI. This solution was developed through a collaboration between Rare Skeletal Disease Department and a local software company (Dilaxia S.p.A.) and is General Data Protection Regulation (GDPR)-compliant, multi-client and web-accessible. It has been designed according to current medical informatics standards, including the Orphanet code, the International Classification of Diseases (ICD), and the Human Genome Variants Society, aiming to follow Findability, Accessibility, Interoperability, Reusability (FAIR) principles. GeDI is continuously being implemented to improve the management of people with Multiple Osteochondromas and to assist researchers in analyzing the information collected. REM is divided into the following 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 Multiple Osteochondromas 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.

Первичные конечные точки

• Natural History and Epidemiology in terms of clinical, genetic and functional evaluation [Срок оценки: 25 years]

Вторичные конечные точки (1)

• Genotype-Phenotype Correlation among clinical features and molecular background [Срок оценки: 25 years]

Критерии участия

Критерии включения

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

Критерии исключения

• Any condition unrelated to Multiple Osteochondromas

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Да

Дизайн исследования

Модель наблюдения

Когортное

Центры проведения

Италия · 1 центр

• Irccs Istituto Ortopedico Rizzoli — Bologna

Публикации

• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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

Идентификаторы

NCT: NCT04133285 · 21629/2013

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

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