hereditary hemorrhagic telangiectasia

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Information
Disease name
hereditary hemorrhagic telangiectasia
Disease ID
DOID:1270
Description
"A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins." [url:http\://en.wikipedia.org/wiki/Hereditary_hemorrhagic_telangiectasia, url:http\://ghr.nlm.nih.gov/condition/hereditary-hemorrhagic-telangiectasia, url:http\://www.ncbi.nlm.nih.gov/books/NBK1351/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT04874558 Active, not recruiting Ultra-low-dose Chest CT for HHT May 1, 2021 May 1, 2024
NCT04646356 Active, not recruiting Phase 2 Tacrolimus Trial for Hereditary Hemorrhagic Telangiectasia (HHT) October 20, 2020 December 2024
NCT05550376 Active, not recruiting Genotype-phenotype Association in Hereditary Hemorrhagic Telangiectasia April 30, 2021 June 30, 2024
NCT04150822 Active, not recruiting Hereditary Hemorrhagic Telangiectasia (HHT) Research Outcomes Registry November 1, 2018 December 2028
NCT00389935 Completed Phase 2 Thalidomide Reduces Arteriovenous Malformation Related Gastrointestinal Bleeding October 2006 July 2011
NCT01031992 Completed Phase 3 Tranexamic Acid and Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) March 2002 October 2002
NCT00004327 Completed Phase 2 Phase II Pilot Study of Octreotide, a Somatostatin Octapeptide Analog, for Gastrointestinal Hemorrhage in Hormone-Refractory Hereditary Hemorrhagic Telangiectasia and Senile Ectasia January 1995
NCT01408732 Completed Phase 1/Phase 2 Office-sclerotherapy for Epistaxis Due to Hereditary Hemorrhagic Telangiectasia February 2011 September 2014
NCT01485224 Completed Phase 2 Efficacy of Thalidomide in the Treatment of Hereditary Hemorrhagic Telangiectasia November 2011 October 11, 2016
NCT01752049 Completed Phase 1/Phase 2 Topical Anti-angiogenic Therapy for Telangiectasia in HHT: Proof of Concept May 2013 August 30, 2019
NCT01931644 Completed At-Home Research Study for Patients With Autoimmune, Inflammatory, Genetic, Hematological, Infectious, Neurological, CNS, Oncological, Respiratory, Metabolic Conditions July 2013 April 2024
NCT05752253 Completed N/A Counseling Intervention in Hereditary Hemorrhagic Telangiectasia in the COVID Era. May 5, 2020 May 30, 2022
NCT02287558 Completed Phase 1 Pomalidomide in Hereditary Hemorrhagic Telangiectasia and Transfusion-Dependent Vascular Ectasia: a Phase I Study January 27, 2015 June 1, 2019
NCT02389959 Completed Phase 4 Intranasal Bevacizumab for HHT-Related Epistaxis August 4, 2014 January 23, 2020
NCT02436213 Completed N/A Cardiopulmonary Exercise Testing to Evaluate Pulmonary AVMs April 2011 March 2015
NCT02977637 Completed Phase 1 MRA With Feraheme in HHT November 2016 November 2018
NCT03572556 Completed Prospective Descriptive Study of the Angiogenic T Cell Population in Subjects With Hereditary Hemorrhagic Telangiectasia (HHT) June 28, 2018 May 3, 2020
NCT03691142 Completed Evaluation of Obstetrical and Neonatal Complications in Hereditary Haemorrhagic Telangiectasia (HHT) October 2, 2018 October 2, 2019
NCT03695874 Completed Development of a Quality of Life Measurement Scale in Hereditary Haemorrhagic Telangiectasia (HHT) Disease. January 28, 2019 December 28, 2020
NCT04113187 Completed Phase 3 Propranolol for Epistaxis in Hereditary Hemorrhagic Telangiectasia Patients June 23, 2020 May 19, 2022
NCT04139018 Completed Phase 2 Timolol Gel for Epistaxis in Hereditary Hemorrhagic Telangiectasia October 20, 2019 May 20, 2020
NCT00004649 Completed Study of the Natural History and Genotype-Phenotype Correlations of Hereditary Hemorrhagic Telangiectasia Patients May 1995
NCT00004654 Completed Phase 3 Phase III Randomized, Placebo-Controlled, Crossover Study of Soy Protein Isolate for Hereditary Hemorrhagic Telangiectasia January 1996
NCT00375622 Completed Phase 2 Anti-Estrogen Therapy for Hereditary Hemorrhagic Telangiectasia A Double-Blind Placebo-Controlled Clinical Trial February 2005 June 2006
NCT06261333 Enrolling by invitation Quality of Life in Patients With Hemorrhagic Telangiectasia January 22, 2024 December 31, 2025
NCT03850730 Not yet recruiting Phase 1/Phase 2 Pazopanib for the Treatment of Epistaxis in Hereditary Hemorrhagic Telangiectasia July 1, 2023 December 31, 2025
NCT01158807 Recruiting Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia April 8, 2010 June 2025
NCT05269849 Recruiting Phase 2 Sirolimus for Nosebleeds in HHT March 16, 2022 February 10, 2025
NCT05641142 Recruiting N/A Prospective Study of Antiplatelet and Anticoagulation Therapy in Hereditary Haemorrhagic Telangiectasia April 7, 2023 January 2027
NCT05954481 Recruiting N/A Stress-Echography in Hereditary Haemorrhagic Telangiectasia Patient With Hepatic Involvement August 3, 2023 August 2024
NCT06259292 Recruiting Comprehensive HHT Outcomes Registry of the United States (CHORUS) November 13, 2023 November 2033
NCT03850964 Recruiting Phase 2/Phase 3 Effects of Pazopanib on Hereditary Hemorrhagic Telangiectasia Related Epistaxis and Anemia (Paz) May 8, 2023 March 31, 2026
NCT04404881 Recruiting Phase 2 Bevacizumab In Hereditary Hemorrhagic Telangiectasia November 23, 2020 February 1, 2027
NCT04469517 Recruiting Influence of Hypoxic Induced Factors in Patients With Hereditary Hemorrhagic Telangiectasia August 10, 2020 October 1, 2024
NCT02106520 Terminated Phase 2/Phase 3 Efficacy of a Bevacizumab Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) April 2014 September 2015
NCT03549949 Unknown status Nationwide Awareness Campaign and Call for Dental Screening for HHT in Germany June 1, 2018 July 2022
NCT02458703 Unknown status N/A Cardiopulmonary Exercise Testing to Evaluate Pulmonary AVMs With and Without Airflow Obstruction May 2015 May 2018
NCT02963129 Unknown status Phase 3 Treatment of Nasal Staphylococcus Aureus Colonization in Patients With HHT June 2017 December 2017
NCT02874326 Unknown status Phase 2 Octreotide in Patients With GI Bleeding Due to Rendu-Osler-Weber October 2016 October 2018
Disase is a (Disease Ontology)
DOID:178
Cross Reference ID (Disease Ontology)
GARD:6626
Cross Reference ID (Disease Ontology)
ICD10CM:I78.0
Cross Reference ID (Disease Ontology)
ICD9CM:448.0
Cross Reference ID (Disease Ontology)
MESH:D013683
Cross Reference ID (Disease Ontology)
MIM:187300
Cross Reference ID (Disease Ontology)
MIM:600376
Cross Reference ID (Disease Ontology)
MIM:601101
Cross Reference ID (Disease Ontology)
MIM:615506
Cross Reference ID (Disease Ontology)
NCI:C35064
Cross Reference ID (Disease Ontology)
ORDO:774
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:266324004
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0039445
Exact Synonym (Disease Ontology)
Osler hemorrhagic telangiectasia syndrome
Exact Synonym (Disease Ontology)
Osler-Weber-Rendu disease
Exact Synonym (Disease Ontology)
Rendu-Osler-Weber disease
OrphaNumber from OrphaNet (Orphanet)
774