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Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families

Telangiectasia, Hereditary Hemorrhagic Clinical Trial

Official title:
Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families With Pulmonary Arteriovenous Malformations

Clinical Trial Summary

This study will examine genes involved in the vascular dysplasia Hereditary haemorrhagic telangiectasia i(HHT)

Clinical Trial Description

Hereditary haemorrhagic telangiectasia (HHT) is a condition inherited as an autosomal dominant trait. Sequencing DNA from affected and unaffected family members allows us to identify disease-causal genes. Sequencing these genes allows us to identify what the precise DNA variants are which are causing disease, particularly if linked to functional assays in separate studies. ;

Study Design

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT00230620
Study type Observational
Source Imperial College London
Contact Claire L Shovlin
Phone 0208 383 1000
Email c.shovlin@imperial.ac.uk
Status Recruiting
Phase
Start date December 1998
Completion date April 2030
View Details
See also
  Status Clinical Trial Phase
Completed NCT03227263 - BABH Study: Efficacy and Safety of Bevacizumab on Severe Bleedings Associated With Hemorrhagic Hereditary Telangiectasia (HHT). Phase 3
Completed NCT00733655 - Study of Histological Samples From Patients With Hereditary Haemorrhagic Telangiectasia
Completed NCT00355108 - ATERO : A Randomised Study With Tranexamic Acid in Epistaxis of Rendu Osler Syndrome Phase 3
Completed NCT01507480 - The ELLIPSE Study: A Phase-1 Study Evaluating the Tolerance of Bevacizumab Nasal Spray to Treat Epistaxis in Hereditary Hemorrhagic Telangiectasia Phase 1
Completed NCT03910244 - Pomalidomide for the Treatment of Bleeding in HHT Phase 2
Completed NCT04108052 - Diagnostic Value of Ultra-low Dose Thoracic Scanner for the Pulmonary Arteriovenous Malformation Detection in HHT Patient N/A
Recruiting NCT04976036 - Efficacy of Nintedanib for Treatment of Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Patients Phase 2
Completed NCT00684879 - Screening Behavior in Adults With Hereditary Hemorrhagic Telangiectasia
Completed NCT00004648 - Studies of Hereditary Hemorrhagic Telangiectasia N/A
Completed NCT00230672 - Investigation of Plasma Proteins in Patients With Hereditary Haemorrhagic Telangiectasia and PAVMs
Completed NCT03954782 - Efficacy of Nintedanib Per os as a Treatment for Epistaxis in HHT Disease. Phase 2
Completed NCT02484716 - Efficacy of a Timolol Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) - (TEMPO) Phase 2
Recruiting NCT00230685 - Case Notes Review on Patients With Hereditary Haemorrhagic Telangiectasia
Terminated NCT02204371 - Evaluation of Pazopanib on Bleeding in Subjects With Hereditary Haemorrhagic Telangiectasia Phase 2
Recruiting NCT02157987 - Treatment of Hereditary Hemorrhagic Telangiectasia of the Nasal Mucosa by Intranasal Bevacizumab : Search for Effective Dose Phase 1/Phase 2
Completed NCT01408030 - North American Study of Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Phase 2
Completed NCT00230659 - Investigation of Coagulation Parameters in Hereditary Haemorrhagic Telangiectasia
Withdrawn NCT00733629 - Study of Endothelial Cells in Patients With Hereditary Haemorrhagic Telangiectasia
Active, not recruiting NCT00230633 - Studies of White Blood Cells Derived From HHT Patients
Recruiting NCT05933330 - Hereditary Hemorrhagic Telangiectasia and Neurovascular Manifestations, in the Danish HHT Database