Marfan syndrome
Information
- Disease name
- Marfan syndrome
- Disease ID
- DOID:14323
- Description
- "A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens." [url:https\://ghr.nlm.nih.gov/condition/marfan-syndrome#inheritance, url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C34807, url:https\://rarediseases.org/rare-diseases/marfan-syndrome/]
Disease area statistics
Chromosome band
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT05980104 | Active, not recruiting | N/A | Single-Session "Empowered Relief" Class for Marfan Syndrome and Related Conditions | March 21, 2024 | September 1, 2024 |
| NCT05578469 | Active, not recruiting | Surgical Treatment of Marfan Syndrome With Subluxation Lens | January 1, 2016 | December 30, 2024 | |
| NCT00485368 | Completed | Phase 3 | Angiotensin Converting Enzyme Inhibitors in Marfan Syndrome | January 2004 | September 2006 |
| NCT00593710 | Completed | Phase 2 | Losartan Versus Atenolol for the Treatment of Marfan Syndrome | January 2008 | December 2011 |
| NCT00001641 | Completed | Study of Heritable Connective Tissue Disorders | March 1997 | June 2002 | |
| NCT00723801 | Completed | Phase 3 | Effects of Losartan Versus Atenolol on Aortic and Cardiac Muscle Stiffness in Adults With Marfan Syndrome | October 2007 | December 2012 |
| NCT04641325 | Completed | N/A | Marfan Syndrome Moderate Exercise Pilot | November 9, 2020 | December 20, 2022 |
| NCT04776668 | Completed | Living With Marfan Syndrome and Your Aorta | October 5, 2021 | August 22, 2023 | |
| NCT03567460 | Completed | N/A | Children and Adolescents With Marfan Syndrome: 10,000 Healthy Steps and Beyond | January 1, 2017 | December 31, 2019 |
| NCT03581682 | Completed | N/A | Tele-Clinic Visits in Pediatric Marfan Patients Using Parental Echo: The Future? | July 1, 2018 | August 1, 2020 |
| NCT04319107 | Completed | Classifying Ectopia Lentis in Marfan Syndrome Into Five Grades of Increasing Severity | January 1, 2000 | December 31, 2013 | |
| NCT04553094 | Completed | N/A | Effects of Personalized Training at Home Combining Endurance and Resistance in Patients Suffering From Marfan Syndrome | January 4, 2021 | September 30, 2022 |
| NCT05123339 | Completed | Clinical Signs and Activity Limitations Associated With Dural Ectasia in Patients With Marfan Disease | February 11, 2022 | September 12, 2022 | |
| NCT00782327 | Completed | Phase 3 | Randomized, Double-blind Study for the Evaluation of the Effect of Losartan Versus Placebo on Aortic Root Dilatation in Patients With Marfan Syndrome Under Treatment With Beta-blockers | November 1, 2009 | November 26, 2014 |
| NCT01295047 | Completed | Phase 4 | Comparison of Medical Therapies in Marfan Syndrome. | July 2006 | December 2008 |
| NCT01322165 | Completed | National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions | November 2007 | September 2016 | |
| NCT01707563 | Completed | N/A | Clinical Variability in Marfan Syndrome | January 2009 | January 2012 |
| NCT01715207 | Completed | Phase 3 | Comparison of Aliskiren vs Negative Controls on Aortic Stiffness in Patients With MFS | June 2010 | December 2014 |
| NCT01760668 | Completed | Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome | February 2013 | October 2015 | |
| NCT05516043 | Completed | Safety and Performance of POLYTHESE® Vascular Prosthesis | July 7, 2021 | November 26, 2021 | |
| NCT00270686 | Completed | Studies of Heritable Disorders of Connective Tissue | January 21, 2003 | January 2, 2015 | |
| NCT02111668 | Completed | Thoracic Aortic Dilatation Syndromes | February 2013 | May 2016 | |
| NCT02213484 | Completed | Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes | July 1, 2014 | July 1, 2016 | |
| NCT03236571 | Completed | N/A | Cardiorespiratory and Muscular Rehabilitation of Children and Young Adults With Marfan Syndrome. | July 24, 2018 | June 21, 2022 |
| NCT00429364 | Completed | Phase 3 | Comparison of Two Medications Aimed at Slowing Aortic Root Enlargement in Individuals With Marfan Syndrome--Pediatric Heart Network | January 2007 | February 2014 |
| NCT05838235 | Not yet recruiting | N/A | Adapted Physical Activity Program (APA) for Effort Rehabilitation of Children and Teenagers With Marfan Syndrome | May 2023 | November 2024 |
| NCT04774172 | Not yet recruiting | Mortality and Morbidity Outcomes in Marfans | December 1, 2023 | March 30, 2024 | |
| NCT05711693 | Not yet recruiting | N/A | Measurement of Heart-carotid Pulse Wave Velocity (hcPWV) by Laser Doppler Vibrometry (LDV) | February 1, 2023 | July 1, 2024 |
| NCT05389865 | Not yet recruiting | Proximal Aortopathy in Scotland - Epidemiology and Surgical Outcomes | August 2023 | August 2024 | |
| NCT04194619 | Not yet recruiting | Pregnancy in Women With Rare Multisystemic Vascular Diseases: COGRare5 Study | January 2020 | September 2026 | |
| NCT06257004 | Recruiting | Genome-wide Epistasis for Cardiovascular Severity in Marfan Study | November 30, 2020 | October 31, 2025 | |
| NCT02050113 | Recruiting | N/A | Complex Aortic Aneurysm Repair Using Physician Modified Endografts and Custom Made Devices | March 2014 | March 2030 |
| NCT03440697 | Recruiting | Pathogenetic Basis of Aortopathy and Aortic Valve Disease | December 10, 2015 | December 31, 2030 | |
| NCT04776681 | Recruiting | Living With Marfans and Your Aorta: Surgical Outcomes Study | July 26, 2021 | March 30, 2025 | |
| NCT04970459 | Recruiting | Biological Collection for Marfan and Related Syndromes | January 24, 2022 | August 7, 2031 | |
| NCT05700175 | Recruiting | Transcriptomic Study of Adult Population With Marfan Syndrome | November 2, 2021 | December 2025 | |
| NCT05702476 | Recruiting | Marfan Syndrome (MFS) and Facial Dysmorphism: Non-invasive 3D Assessment | January 9, 2023 | June 2027 | |
| NCT05712577 | Recruiting | Psychological Support in Adult Patients With Marfan Syndrome | January 9, 2023 | October 9, 2024 | |
| NCT05720923 | Recruiting | Analysis of Muscular Properties in Patients With MFS and EDS | February 15, 2023 | February 2025 | |
| NCT05809323 | Recruiting | N/A | Marfan Syndrome Moderate Exercise Trial II | September 1, 2023 | July 1, 2027 |
| NCT05944614 | Recruiting | Towards Optimal Treatment of Marfan Syndrome | February 23, 2023 | June 2025 | |
| NCT00763893 | Terminated | Phase 3 | Study of the Efficacy of Losartan on Aortic Dilatation in Patients With Marfan Syndrome | September 2008 | December 2014 |
| NCT04731493 | Unknown status | Effect on the Quality of Life of a Therapeutic Education Program in Patients With Marfan Syndrome | December 2, 2020 | January 31, 2024 | |
| NCT02148900 | Unknown status | Development of a Blood Test for Marfan Syndrome | May 2013 | December 2017 | |
| NCT01949233 | Unknown status | Phase 2 | The Oxford Marfan Trial | October 2013 | December 2017 |
| NCT00683124 | Unknown status | Phase 3 | Nebivolol Versus Losartan Versus Nebivolol+Losartan Against Aortic Root Dilation in Genotyped Marfan Patients | July 2008 | July 2013 |
| NCT01145612 | Unknown status | Phase 3 | Atenolol Versus Losartan in the Prevention of Progressive Dilation of the Aorta in Marfan Syndrome | October 2008 | February 2013 |
| NCT00651235 | Unknown status | Phase 2 | A Randomized, Open-label, LOSARTAN Therapy on the Progression of Aortic Root Dilation in Patients With Marfan Syndrome | February 2007 | June 2011 |
| NCT01361087 | Withdrawn | Phase 3 | Circulating Transforming Growth Factor Beta (TGF-β) in Individuals With Marfan Syndrome | April 2011 |
- Disase is a (Disease Ontology)
- DOID:65
- Cross Reference ID (Disease Ontology)
- GARD:6975
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q87.4
- Cross Reference ID (Disease Ontology)
- ICD9CM:759.82
- Cross Reference ID (Disease Ontology)
- MESH:D008382
- Cross Reference ID (Disease Ontology)
- MIM:154700
- Cross Reference ID (Disease Ontology)
- NCI:C34807
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:19346006
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0024796
- Exact Synonym (Disease Ontology)
- Marfan's syndrome
- OrphaNumber from OrphaNet (Orphanet)
- 558
- ICD10 preferred id (Insert disease from ICD10)
- D0014145
- ICD10 class code (Insert disease from ICD10)
- Q87.4
- MeSH unique ID (MeSH (Medical Subject Headings))
- D008382