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NCT00230620 Clinical Trial

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 Details — Status: Recruiting

Administrative data
NCT number NCT00230620
Other study ID # IC/CLS1
Secondary ID
Status Recruiting
Phase
First received
Last updated
Start date December 1998
Est. completion date April 2030

Study information
Verified date September 2023
Source Imperial College London
Contact Claire L Shovlin
Phone 0208 383 1000
Email c.shovlin@imperial.ac.uk
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial Summary

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

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.

Recruitment information / eligibility
Status Recruiting
Enrollment 1000
Est. completion date April 2030
Est. primary completion date April 2030
Accepts healthy volunteers No
Gender All
Age group N/A and older
Eligibility Inclusion Criteria: - Member of family affected by HHT Exclusion Criteria: - Unable or unwilling to provide informed consent for DNA sample

Study Design

Related Conditions & MeSH terms

Locations
Country Name City State
United Kingdom Imperial College Hammersmith Campus London

Sponsors (2)
Lead Sponsor Collaborator
Imperial College London British Heart Foundation

Country where clinical trial is conducted

United Kingdom, 

References & Publications (9)

Anderson E, Sharma L, Alsafi A, Shovlin CL. Pulmonary arteriovenous malformations may be the only clinical criterion present in genetically confirmed hereditary haemorrhagic telangiectasia. Thorax. 2022 Jun;77(6):628-630. doi: 10.1136/thoraxjnl-2021-21833 — View Citation

Balachandar S, Graves TJ, Shimonty A, Kerr K, Kilner J, Xiao S, Slade R, Sroya M, Alikian M, Curetean E, Thomas E, McConnell VPM, McKee S, Boardman-Pretty F, Devereau A, Fowler TA, Caulfield MJ, Alton EW, Ferguson T, Redhead J, McKnight AJ, Thomas GA; Gen — View Citation

Clarke JM, Alikian M, Xiao S, Kasperaviciute D, Thomas E, Turbin I, Olupona K, Cifra E, Curetean E, Ferguson T, Redhead J; Genomics England Research Consortium; Shovlin CL. Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidire — View Citation

Cole SG, Begbie ME, Wallace GM, Shovlin CL. A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5. J Med Genet. 2005 Jul;42(7):577-82. doi: 10.1136/jmg.2004.028712. — View Citation

Govani FS, Shovlin CL. Fine mapping of the hereditary haemorrhagic telangiectasia (HHT)3 locus on chromosome 5 excludes VE-Cadherin-2, Sprouty4 and other interval genes. J Angiogenes Res. 2010 Aug 11;2:15. doi: 10.1186/2040-2384-2-15. — View Citation

Joyce KE, Onabanjo E, Brownlow S, Nur F, Olupona K, Fakayode K, Sroya M, Thomas GA, Ferguson T, Redhead J, Millar CM, Cooper N, Layton DM, Boardman-Pretty F, Caulfield MJ; Genomics England Research Consortium; Shovlin CL. Whole genome sequences discrimina — View Citation

Sharma L, Almaghlouth F, Mckernan H, Springett J, Tighe HC, Shovlin CL. Iron deficiency responses and integrated compensations in patients according to hereditary haemorrhagic telangiectasia ACVRL1, ENG and SMAD4 genotypes. Haematologica. 2023 Sep 21. doi — View Citation

Shovlin CL, Almaghlouth FI, Alsafi A, Coote N, Rennie C, Wallace GM, Govani FS, Research Consortium GE. Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of 'gene-negative' individuals recrui — View Citation

Shovlin CL, Simeoni I, Downes K, Frazer ZC, Megy K, Bernabeu-Herrero ME, Shurr A, Brimley J, Patel D, Kell L, Stephens J, Turbin IG, Aldred MA, Penkett CJ, Ouwehand WH, Jovine L, Turro E. Mutational and phenotypic characterization of hereditary hemorrhagi — View Citation

See also
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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
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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