Ehlers-Danlos syndrome
Information
- Disease name
- Ehlers-Danlos syndrome
- Disease ID
- DOID:13359
- Description
- "A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules." [url:http\://en.wikipedia.org/wiki/Ehlers%E2%80%93Danlos_syndrome, url:http\://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome, url:http\://www.mayoclinic.com/health/ehlers-danlos-syndrome/DS00706, url:http\://www.merriam-webster.com/medlineplus/ehlers-Danlos, url:http\://www.nlm.nih.gov/medlineplus/ehlersdanlossyndrome.html, url:https\://www.ehlers-danlos.com/what-is-eds/, url:https\://www.ncbi.nlm.nih.gov/pubmed/23711271]
Disease area statistics
Chromosome band
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT05603741 | Active, not recruiting | Phase 4 | Local Anesthetic Response in Ehlers-Danlos Syndrome (EDS) and Healthy Volunteers | November 10, 2022 | June 2025 |
| NCT03093493 | Active, not recruiting | Genetics of Ehlers-Danlos Syndrome | August 25, 2017 | June 2025 | |
| NCT01322165 | Completed | National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions | November 2007 | September 2016 | |
| NCT01356134 | Completed | Vascular Fundus Changes in Patients With High Probability of Chronic Cerebrospinal Venous Insufficiency (CCSVI) | May 2011 | April 2015 | |
| NCT02435745 | Completed | Obstructive Sleep Apnoea in Ehlers-Danlos Syndrome | April 2015 | December 2015 | |
| NCT00001966 | Completed | Phase 2 | Mind-Body Therapy for Pain in Ehlers-Danlos Syndrome | January 2000 | January 2001 |
| NCT00270686 | Completed | Studies of Heritable Disorders of Connective Tissue | January 21, 2003 | January 2, 2015 | |
| NCT03602482 | Completed | N/A | Standing Cognition and Co-morbidities of POTS Evaluation | June 23, 2018 | December 17, 2019 |
| NCT03681080 | Completed | N/A | Concentration and Attentional Deficits in POTS and Other Autonomic Neuropathies | April 1, 2017 | May 30, 2023 |
| NCT03986229 | Completed | N/A | Evaluation of the Effect of Custom Compression Garments on Standing Static Balance in Ehlers Danlos Syndrome | April 10, 2019 | March 15, 2022 |
| NCT04437589 | Completed | Opioid-Free Anesthesia for Patients With Joint Hypermobility Syndrome Undergoing Craneo-Cervical Fixation: A Case-series | September 6, 2018 | March 9, 2020 | |
| NCT04680793 | Completed | N/A | Effects of a Multidisciplinary Outpatient Rehabilitation Program in Patients With Ehlers-Danlos Syndrome. | September 22, 2020 | April 13, 2022 |
| NCT04734041 | Completed | N/A | Integrative Medicine for Hypermobility Spectrum Disorder and Ehlers-Danlos Syndromes (IMforHSDandEDS) | December 23, 2020 | July 2, 2021 |
| NCT05137379 | Completed | Evaluation of a Cohort of Patients With Ehlers-Danlos Syndrome Treated With Orthopedic Surgery (SED-eval) | March 30, 2021 | March 30, 2022 | |
| NCT05516043 | Completed | Safety and Performance of POLYTHESE® Vascular Prosthesis | July 7, 2021 | November 26, 2021 | |
| NCT04036305 | Enrolling by invitation | Local Anesthetic Response in Ehlers-Danlos Syndrome (EDS) and Healthy Volunteers | July 26, 2019 | December 31, 2025 | |
| NCT05366114 | Enrolling by invitation | Vision-based Assessment of Joint Extensibility in Ehlers Danlos Syndrome | April 26, 2022 | December 2024 | |
| NCT05429996 | Enrolling by invitation | Ultrastructural Collagen Markers in Ehlers Danlos Syndromes | October 31, 2022 | August 1, 2024 | |
| NCT05434728 | Enrolling by invitation | Characterization of Bleeding Disorders in EDS | November 1, 2022 | February 1, 2024 | |
| NCT05389865 | Not yet recruiting | Proximal Aortopathy in Scotland - Epidemiology and Surgical Outcomes | August 2023 | August 2024 | |
| NCT06325345 | Not yet recruiting | N/A | RCT of Gut-directed Hypnotherapy in Ehlers-Danlos Syndromes and Generalized Hypermobility Spectrum Disorders | April 1, 2024 | April 1, 2025 |
| NCT05279937 | Not yet recruiting | Phase 3 | The Ultrasound-Guided Dextrose Prolotherapy in Ehlers-Danlos Syndrome Patients | September 2024 | September 2025 |
| NCT06336473 | Not yet recruiting | N/A | Evaluation of the Effects of Cross Linking on the Biomechanical Characteristics of Skin Samples From Patients With Classic or Hypermobile Ehlers-Danlos Syndrome | April 1, 2024 | July 31, 2025 |
| NCT06105541 | Recruiting | N/A | Hypermobile Ehlers-Danlos Syndrome - Transcutaneous Auricular Neuromodulation | July 5, 2023 | July 1, 2025 |
| NCT05561270 | Recruiting | N/A | Light Exposure on Pain in Hypermobile Ehlers-Danlos Syndrome | November 21, 2022 | November 2025 |
| NCT04133272 | Recruiting | Registry of Ehlers-Danlos Syndrome | June 2014 | January 2033 | |
| NCT02050113 | Recruiting | N/A | Complex Aortic Aneurysm Repair Using Physician Modified Endografts and Custom Made Devices | March 2014 | March 2030 |
| NCT05720923 | Recruiting | Analysis of Muscular Properties in Patients With MFS and EDS | February 15, 2023 | February 2025 | |
| NCT03330977 | Unknown status | N/A | Efficiency Clinical Study of NOVATEX MEDICAL Compression Garments in Patients With Ehlers-Danlos Syndrome | December 21, 2017 | March 31, 2023 |
| NCT02721797 | Unknown status | Origins and Impact of EDS in Connective Tissues and Skin | April 1, 2017 | April 2021 | |
| NCT04890431 | Unknown status | Phase 4 | Impact of Oxygen Therapy on Fatigue in Patients With Hypermobile-type Ehlers-Danlos Syndrome | March 10, 2022 | January 2024 |
| NCT03575182 | Unknown status | N/A | Gait Retraining in Patients With Joint Hypermobility Syndrome/Hypermobile Ehlers Danlos Syndrome | October 1, 2018 | October 31, 2020 |
| NCT03596437 | Unknown status | N/A | Study of Arterial Properties by Ultra-high Frequency Ultrasound in Fibromuscular Dysplasia and Vascular Ehlers-Danlos Syndrome | January 7, 2019 | March 2019 |
- Disase is a (Disease Ontology)
- DOID:854
- Cross Reference ID (Disease Ontology)
- GARD:6322
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q79.6
- Cross Reference ID (Disease Ontology)
- ICD9CM:756.83
- Cross Reference ID (Disease Ontology)
- MESH:D004535
- Cross Reference ID (Disease Ontology)
- MIM:PS130000
- Cross Reference ID (Disease Ontology)
- NCI:C34568
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:268352002
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0013720
- Exact Synonym (Disease Ontology)
- Cutis hyperelastica
- Exact Synonym (Disease Ontology)
- elastic skin
- OMIM Phenotype Series Number (OMIM)
- PS130000
- ICD10 preferred id (Insert disease from ICD10)
- D0014086
- ICD10 class code (Insert disease from ICD10)
- Q79.6
- MeSH unique ID (MeSH (Medical Subject Headings))
- D004535