Registry of Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome Clinical Trial

— RED  

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04133272
• Other study ID #: 21611/2014
• Status: Recruiting
• Start date: June 2014
• Est. completion date: January 2033

Study information

• Verified date: May 2023
• Source: Istituto Ortopedico Rizzoli
• Contact: Marina Mordenti, PhD
• Phone: +39 05 6366062
• Email: marina.mordenti[@]ior.it
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

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.)

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 3000
• Est. completion date: January 2033
• Est. primary completion date: June 2026
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Ehlers-Danlos Syndrome
• Syndrome

Locations

Country	Name	City	State
Italy	Irccs Istituto Ortopedico Rizzoli	Bologna	Emilia Romagna

Sponsors (1)

Lead Sponsor	Collaborator
Luca Sangiorgi

Country where clinical trial is conducted

Italy, 

References & Publications (10)

Beighton P. Ehlers-Danlos syndrome. Ann Rheum Dis. 1970 May;29(3):332-3. doi: 10.1136/ard.29.3.332. No abstract available. — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

Ghali N, Sobey G, Burrows N. Ehlers-Danlos syndromes. BMJ. 2019 Sep 18;366:l4966. doi: 10.1136/bmj.l4966. No abstract available. — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	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 trace on the progression of the clinical manifestations.	25 years
Primary	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 (such as incidence, prevalence, etc.).; Collection of: physical examinations data: assessment of type of the disease (according to Orphanet types); orthopaedic and functional data: stature (cm), weight (kg), Beighton score, pain score (numeric scale), presence cardiac lesion (ultrasound); surgical procedures: type, number and site of surgeries disease-related and age at surgeries; genetics background: target gene, type of mutation, type of variant detected, clinical significance; 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.	25 years
Secondary	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	25 years