An observational study in Ehlers-Danlos Syndrome, sponsored by Luca Sangiorgi. Recruiting at 1 site in Italy. Per ClinicalTrials.gov, last updated 2026-11-05.
Sponsored by Luca Sangiorgi · Observational
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.
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:
66 studies on the registry are indexed under Ehlers-Danlos Syndrome; 24 are open to participants now.
This study's planned enrollment of 3,000 is above the median of 153 across 32 observational studies indexed under Ehlers-Danlos Syndrome.
Browse Ehlers-Danlos Syndrome studies →Luca Sangiorgi is the lead sponsor of 5 studies on the registry; 5 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Patients affected by Ehlers-Danlos Syndrome. The Registry will include also data on fetuses (prenatal and abortion)
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Exclusion Criteria:
The group comprises all patients affected by Ehlers-Danlos Syndrome, including prenatal and fetal diagnosis of Ehlers-Danlos Syndrome
Natural History and Epidemiology in terms of clinical, genetic and functional evaluation
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.
Time frame: 25 years
Genotype-Phenotype Correlation among clinical features and molecular background
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
Time frame: 25 years
Longitudinal study of disease (including prospective and retrospective data)
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.
Time frame: 25 years
Started Jun 2014 (actual). Primary completion is estimated for Jun 2027, 156 months after the start.
Primary completion moved once since we started tracking on Sep 25, 2026: Jun 2026 → Jun 2027, on Nov 5, 2026.
Earlier changes are on the record history on ClinicalTrials.gov ↗
How these figures are worked out, and which studies are left out of them.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
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