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Registry of Ehlers-Danlos Syndrome (RED)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT04133272
Recruitment Status : Recruiting
First Posted : October 21, 2019
Last Update Posted : August 3, 2022
Information provided by (Responsible Party):
Luca Sangiorgi, Istituto Ortopedico Rizzoli

Brief Summary:

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.

Condition or disease
Ehlers-Danlos Syndrome

Detailed Description:

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.)

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 3000 participants
Observational Model: Cohort
Time Perspective: Other
Target Follow-Up Duration: 15 Years
Official Title: Registry of Ehlers-Danlos Syndrome That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Quality of Life Data. Data Are Linked to Patients Biological Sample
Actual Study Start Date : June 2014
Estimated Primary Completion Date : June 2026
Estimated Study Completion Date : January 2033

Resource links provided by the National Library of Medicine

Ehlers-Danlos Syndrome patients
The group comprises all patients affected by Ehlers-Danlos Syndrome, including prenatal and fetal diagnosis of Ehlers-Danlos Syndrome

Primary Outcome Measures :
  1. Natural History and Epidemiology in terms of clinical, genetic and functional evaluation [ Time Frame: 25 years ]

    To maintain an established registry in order to assess epidemiology and natural history (such as incidence, prevalence, etc.).

    Collection of:

    1. physical examinations data: assessment of type of the disease (according to Orphanet types)
    2. orthopaedic and functional data: stature (cm), weight (kg), Beighton score, pain score (numeric scale), presence cardiac lesion (ultrasound)
    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 in maternal or paternal line

    Clinical, orthopaedic and functional features are updated at each follow up. Clinical reports, medical charts and imaging are the primary source of data.

Secondary Outcome Measures :
  1. Genotype-Phenotype Correlation among clinical features and molecular background [ Time Frame: 25 years ]
    The secondary outcome comprises the correlation between genotype and phenotype. This includes, but is not limited to clinical features and genetic background. This will be pursued using the information collected during visits and follow-ups and the genetic information resulting from molecular investigations

Other Outcome Measures:
  1. Longitudinal study of disease (including prospective and retrospective data) [ Time Frame: 25 years ]

    This outcome aims to investigate the Ehlers-Danlos Syndrome trend during time. This will be evaluated within the families and among the families.

    Main clinical features, such as height (cm), pain (numeric scale) and other variables will be collected both retrospectively and prospectively. An evaluation of these parameters will be performed at each visit to keep trace on the progression of the clinical manifestations.

Biospecimen Retention:   Samples With DNA
Whole peripheral blood, DNA, lymphocytes

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
Patients affected by Ehlers-Danlos Syndrome. The Registry will include also data on foetuses (prenatal and abortion)

Inclusion Criteria:

  • All Ehlers-Danlos Syndrome patients, including prenatal and fetal diagnosis of Ehlers-Danlos Syndrome

Exclusion Criteria:

  • Any condition unrelated to Ehlers-Danlos Syndrome

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT04133272

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Contact: Marina Mordenti, PhD +39 05 6366062
Contact: Manila Boarini, MSc +39 05 6366062

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Irccs Istituto Ortopedico Rizzoli Recruiting
Bologna, Emilia Romagna, Italy, 40136
Contact: Marina Mordenti, PhD    +39 051 6366062   
Contact: Manila Boarini, MSc    +39 051 6366062   
Sponsors and Collaborators
Luca Sangiorgi
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Principal Investigator: Luca Sangiorgi, MD, PhD, MS Istituto Ortopedico Rizzoli

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Responsible Party: Luca Sangiorgi, Haed of Medical Genetic Department and Clinical Bioinformatic Laboratory, Istituto Ortopedico Rizzoli Identifier: NCT04133272    
Other Study ID Numbers: 21611/2014
First Posted: October 21, 2019    Key Record Dates
Last Update Posted: August 3, 2022
Last Verified: August 2022

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Luca Sangiorgi, Istituto Ortopedico Rizzoli:
Disease Registry
Natural History Study
Genotype-Phenotype Correlation
Additional relevant MeSH terms:
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Ehlers-Danlos Syndrome
Pathologic Processes
Hemostatic Disorders
Vascular Diseases
Cardiovascular Diseases
Hemorrhagic Disorders
Hematologic Diseases
Skin Abnormalities
Congenital Abnormalities
Skin Diseases, Genetic
Genetic Diseases, Inborn
Collagen Diseases
Connective Tissue Diseases
Skin Diseases