Registry of Ollier Disease and Maffucci Syndrome

Официальное название

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

Обзор

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.

Подробное описание

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.

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 eventual molecular background [Срок оценки: 25 years]

Критерии участия

Критерии включения

• All patients affected by Ollier Disease and Maffucci Syndrome

Критерии исключения

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

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

• 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
• 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
• 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
• 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
• 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
• 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
• Silve C, Juppner H. Ollier disease. Orphanet J Rare Dis. 2006 Sep 22;1:37. doi: 10.1186/1750-1172-1-37. PMID 16995932
• 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

Идентификаторы

NCT: NCT04134572 · 378/2017

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

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