Viewing Study NCT00230620


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Study NCT ID: NCT00230620
Status: RECRUITING
Last Update Posted: 2023-09-28
First Post: 2005-09-29
Is NOT Gene Therapy: False
Has Adverse Events: False

Brief Title: Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families
Sponsor: Imperial College London
Organization:

Study Overview

Official Title: Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families With Pulmonary Arteriovenous Malformations
Status: RECRUITING
Status Verified Date: 2023-09
Last Known Status: None
Delayed Posting: No
If Stopped, Why?: Not Stopped
Has Expanded Access: False
If Expanded Access, NCT#: N/A
Has Expanded Access, NCT# Status: N/A
Acronym: None
Brief Summary: This study will examine genes involved in the vascular dysplasia Hereditary haemorrhagic telangiectasia i(HHT)
Detailed 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 Oversight

Has Oversight DMC: False
Is a FDA Regulated Drug?: False
Is a FDA Regulated Device?: False
Is an Unapproved Device?: None
Is a PPSD?: None
Is a US Export?: None
Is an FDA AA801 Violation?: