Registry of Ehlers-Danlos Syndrome (RED)

November 17, 2025 updated by: Luca Sangiorgi

Registry of Ehlers-Danlos Syndrome That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Treatment, Quality of Life Data. Data Are Linked to Patients' Biological Samples, When Available

RED 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 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.

Study Overview

Status

Recruiting

Conditions

Detailed Description

The traditional method of collecting patient information is often chaotic, inconvenient and sometimes even unsafe, particularly when dealing with rare diseases. In 2014, 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 Ehlers-Danlos Syndrome (RED).

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.

Study Type

Observational

Enrollment (Estimated)

3000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Probability Sample

Study Population

Patients affected by Ehlers-Danlos Syndrome. The Registry will include also data on fetuses (prenatal and abortion)

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Other

Cohorts and Interventions

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.

Collection of:

  1. physical examinations data: assessment of type of the disease (according to Orphanet types)
  2. orthopedic 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
  6. treatment information: pharmacological, devices, supplements, and other treatments

Clinical, orthopedic, surgical, treatment and functional features are updated at each follow up. Clinical reports, medical charts, genetic report and imaging are the primary sources of data.
25 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
25 years

Other Outcome Measures

Outcome Measure
Measure Description
Time Frame
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 track on the progression of clinical manifestations.
25 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Luca Sangiorgi

Investigators

  • Principal Investigator: Luca Sangiorgi, MD, PhD, MS, Istituto Ortopedico Rizzoli

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

June 1, 2014

Primary Completion (Estimated)

June 1, 2026

Study Completion (Estimated)

January 1, 2033

Study Registration Dates

First Submitted

October 14, 2019

First Submitted That Met QC Criteria

October 18, 2019

First Posted (Actual)

October 21, 2019

Study Record Updates

Last Update Posted (Actual)

November 20, 2025

Last Update Submitted That Met QC Criteria

November 17, 2025

Last Verified

November 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 21611/2014

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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