Ehlers-Danlos Syndrome Clinical Trial
— REDOfficial 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
NCT number | NCT04133272 |
Other study ID # | 21611/2014 |
Secondary ID | |
Status | Recruiting |
Phase | |
First received | |
Last updated | |
Start date | June 2014 |
Est. completion date | January 2033 |
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.
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 |
Country | Name | City | State |
---|---|---|---|
Italy | Irccs Istituto Ortopedico Rizzoli | Bologna | Emilia Romagna |
Lead Sponsor | Collaborator |
---|---|
Luca Sangiorgi |
Italy,
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
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 |
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