Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
3000 participants
OBSERVATIONAL
2014-06-30
2033-01-31
Brief Summary
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This approach has been developed to corroborate and integrate data from different sources and 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.
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Detailed Description
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The RED 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) 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), the Human Genome Variants Society, aiming to follow FAIR (Findability Accessibility Interoperability Reusability) principles. GeDI is continuously being implemented to improve the management of people with Ehlers-Danlos Syndrome and to assist researchers in analysing the information collected. RED 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 Ehlers-Danlos 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.
Conditions
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Study Design
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COHORT
OTHER
Study Groups
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Ehlers-Danlos Syndrome patients
The group comprises all patients affected by Ehlers-Danlos Syndrome, including prenatal and fetal diagnosis of Ehlers-Danlos Syndrome
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
Exclusion Criteria
ALL
Yes
Sponsors
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Luca Sangiorgi
OTHER
Responsible Party
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Luca Sangiorgi
Head of Department of Rare Skeletal Disorders
Principal Investigators
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Luca Sangiorgi, MD, PhD, MS
Role: PRINCIPAL_INVESTIGATOR
Istituto Ortopedico Rizzoli
Locations
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Irccs Istituto Ortopedico Rizzoli
Bologna, Emilia-Romagna, Italy
Countries
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Central Contacts
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Facility Contacts
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References
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Ritelli M, Rovati C, Venturini M, Chiarelli N, Cinquina V, Castori M, Colombi M. Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology. Clin Genet. 2020 Feb;97(2):287-295. doi: 10.1111/cge.13653. Epub 2019 Nov 3.
Ghali N, Sobey G, Burrows N. Ehlers-Danlos syndromes. BMJ. 2019 Sep 18;366:l4966. doi: 10.1136/bmj.l4966. No abstract available.
Black CM, Gathercole LJ, Bailey AJ, Beighton P. The Ehlers-Danlos syndrome: an analysis of the structure of the collagen fibres of the skin. Br J Dermatol. 1980 Jan;102(1):85-96. doi: 10.1111/j.1365-2133.1980.tb05675.x.
Beighton P. Ehlers-Danlos syndrome. Ann Rheum Dis. 1970 May;29(3):332-3. doi: 10.1136/ard.29.3.332. No abstract available.
Benistan K, Gillas F. Pain in Ehlers-Danlos syndromes. Joint Bone Spine. 2020 May;87(3):199-201. doi: 10.1016/j.jbspin.2019.09.011. Epub 2019 Sep 25. No abstract available.
Hausser I. Diagnosis of Ehlers-Danlos syndrome: data deficiency still does not allow establishment of a complete history of the disease and its pathomechanisms. Br J Dermatol. 2020 Mar;182(3):535-536. doi: 10.1111/bjd.18373. Epub 2019 Aug 20. No abstract available.
Jesudas R, Chaudhury A, Laukaitis CM. An update on the new classification of Ehlers-Danlos syndrome and review of the causes of bleeding in this population. Haemophilia. 2019 Jul;25(4):558-566. doi: 10.1111/hae.13800. Epub 2019 Jun 10.
De Baets S, Calders P, Verhoost L, Coussens M, Dewandele I, Malfait F, Vanderstraeten G, Van Hove G, Van de Velde D. Patient perspectives on employment participation in the "hypermobile Ehlers-Danlos syndrome". Disabil Rehabil. 2021 Mar;43(5):668-677. doi: 10.1080/09638288.2019.1636316. Epub 2019 Jul 9.
Copetti M, Morlino S, Colombi M, Grammatico P, Fontana A, Castori M. Severity classes in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders: a pilot study of 105 Italian patients. Rheumatology (Oxford). 2019 Oct 1;58(10):1722-1730. doi: 10.1093/rheumatology/kez029.
Mu W, Muriello M, Clemens JL, Wang Y, Smith CH, Tran PT, Rowe PC, Francomano CA, Kline AD, Bodurtha J. Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders. Am J Med Genet A. 2019 Apr;179(4):561-569. doi: 10.1002/ajmg.a.61055. Epub 2019 Jan 31.
Related Links
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Institutional webpage of Registries For Rare Hereditary Diseases
Other Identifiers
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21611/2014
Identifier Type: -
Identifier Source: org_study_id
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