Registry of Ehlers-Danlos Syndrome

2019-10-24 12:49:26 | BioPortfolio


RED 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.


The common way to collect patient information is frequently chaotic and inconvenient (sometimes even unsafe), particularly when dealing with rare diseases. The need to simplify the diagnostic process and to overcome the difficulties of data storage and analysis, suggested in 2013 to implement the Registry of Ehlers-Danlos Syndrome (RED).

The RED 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 (NSI - Nier IT Solution), 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 Ehlers-Danlos Syndrome and to help researchers in analysing collected information. RED 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 details on patients Diagnosis: the diagnosis, the status (affected, suspect, etc.), age at diagnosis, comorbidities, allergies, etc.

Genogram: a tool to design family transmission of the disease, flanked by info on diseases status of all included relatives Clinical events: records 23 signs and symptoms of Ehlers-Danlos Syndrome (representing the main Ehlers-Danlos Syndrome features) and 12 additional items to describe the disease Genetic Analysis and Alteration: including technique, sample information, duration of analysis, etc. In addition, this section comprises detailed information on detected pathological variants (gene, international reference, DNA change, Protein change, genomic position, etc.) Visits: it includes the typology of the visit (genetic, orthopaedic, rehabilitation, paediatric, etc.), the date of the visit, treatment, prescription, imaging, etc.

Surgeries: this section contains information on the surgeries type, the age of the patients, the site/localization of the procedures, etc.

Documents: this repository is allowed to store all type of documents (radiological reports, imaging, consents, clinical reports, etc.) Consents: this section comprises a complete overview of all collected consents, including the date of collection.

Samples: it comprises the type of samples (DNA, tissue, whole peripheral blood, etc.)

Study Design


Ehlers-Danlos Syndrome


Irccs Istituto Ortopedico Rizzoli
Emilia Romagna


Enrolling by invitation


Istituto Ortopedico Rizzoli

Results (where available)

View Results


Published on BioPortfolio: 2019-10-24T12:49:26-0400

Clinical Trials [912 Associated Clinical Trials listed on BioPortfolio]

Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular Type

Ehlers-Danlos syndrome vascular type (EDS-IV) is caused by a genetic defect of collagen type III. Patient die (median 40 yrs) of vascular complications. There is no treatment. We showed th...

Compression Garments and Rehabiltation on Hypermobility Type of Ehlers-Danlos Syndrome( CGhEDS)

This study evaluates the effects of wearing a compression garment on the postural balance of patients with hypermobility type of Ehlers-Danlos syndrome.

Evaluation of the Effect of Custom Compression Garments on Standing Static Balance in Ehlers Danlos Syndrome

Studies have shown the existence of a proprioceptive deficit in patients with Ehlers Danlos Syndrome (EDS) (genetic pathology of connective tissue with hypermobility, plurifactor joint ins...

Efficiency Clinical Study of NOVATEX MEDICAL Pressure Garments in Patients With Ehlers-Danlos Syndrome

Objective of this study is to assess the efficiency of NOVATEX MEDICAL pressure garments in patients with an Ehlers-Danlos syndrome (EDS). To answer this objectif a comparison before/afte...

Angiotensin II Receptor Blockade in Vascular Ehlers Danlos Syndrome (ARCADE)

This study aims to verify the hypothesis that patients with Vascular Ehlers Danlos syndrome (vEDS) should benefit of the blockade of angiotensin (Ang) II noxious effects on their vasculatu...

PubMed Articles [4814 Associated PubMed Articles listed on BioPortfolio]

Oro-dental characteristics in patients with hypermobile Ehlers Danlos Syndrome compared to a healthy control group.

Ehlers-Danlos syndrome (EDS) is a hereditary disorder that affects the connective tissue and collagen structures in the body characterized by joint hypermobility, skin hyperextensibility and tissue fr...

Prolapse and regurgitation of the four heart valves in a patient with Ehlers-Danlos Syndrome: a case report.

The Ehlers-Danlos Syndrome (EDS) is part of a group of connective tissue diseases that affect the synthesis and processing of collagen leading to alterations in the structure of many tissues and organ...

A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility.

An eight-week old Doberman Pinscher was diagnosed with Ehlers Danlos syndrome based on the dog's hyper-mobile carpal, tarsal and stifle joints and abnormal skin. The skin was loose and hyper-elastic w...

Subacromial space outlet in female patients with multidirectional instability based on hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder measured by ultrasound.

The objective of the study was to compare the acromiohumeral distance (AHD) between patients diagnosed with hypermobility type of the Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorder (...

Celiprolol but not losartan improves the biomechanical integrity of the aorta in a mouse model of vascular Ehlers-Danlos syndrome.

Antihypertensive drugs are included in the medical therapy of vascular Ehlers-Danlos syndrome (vEDS). The β-blocker celiprolol has been suggested to prevent arterial damage in vEDS, but the underlyin...

Medical and Biotech [MESH] Definitions

An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA RECEPTOR. Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELORISM; or bifid uvula. Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS-DANLOS SYNDROME.

A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.

Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.

Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).

Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.

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