A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5.
S G Cole, M E Begbie, G M F Wallace...
https://pubmed.ncbi.nlm.nih.gov/15994879Actively Recruiting
All Genders
ID00230620
Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families With Pulmonary Arteriovenous Malformations
Led by Imperial College London · Updated on 2023-09-28
1000
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
Sponsors
I
Imperial College London
Lead Sponsor
B
British Heart Foundation
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are studying the genetic factors involved in the vascular condition called Hereditary Haemorrhagic Telangiectasia (HHT), which is inherited as an autosomal dominant trait. The study aims to identify the specific DNA variants causing the disease by sequencing DNA from both affected and unaffected family members. This genetic research helps to better understand the underlying causes of HHT, especially when combined with functional assays from separate studies. Participants will provide blood or saliva samples for DNA analysis. There is no treatment or intervention involved in this observational study; it focuses solely on collecting genetic material from individuals with HHT and their family members. This approach allows researchers to explore hereditary patterns and pinpoint disease-causing genes. Throughout the study, participants will be involved in providing samples for DNA sequencing. Researchers will analyze these samples to identify genetic variants linked to HHT. The study does not involve any treatment procedures or follow-up visits related to clinical care. Participation duration and follow-up depend on sample collection and analysis timelines, with no additional interventions required.
CONDITIONS
Brief Title
Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families
Who Can Participate
All Genders
Eligibility Criteria
You may qualify if you...
- Member of family affected by HHT
You will not qualify if you...
- Unable or unwilling to provide informed consent for DNA sample
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Sample Collection
Duration - Varies depending on participant availability
Participants provide blood or saliva samples for DNA sequencing to study hereditary haemorrhagic telangiectasia.
1 visit (in-person)
Trial Site Locations
Total: 1 location
1
Imperial College Hammersmith Campus
London, United Kingdom, W12 0NN
Actively Recruiting
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Research Team
C
Claire L Shovlin
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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Published Research Related To This Trial
Fine mapping of the hereditary haemorrhagic telangiectasia (HHT)3 locus on chromosome 5 excludes VE-Cadherin-2, Sprouty4 and other interval genes.
Fatima S Govani, Claire L Shovlin
https://pubmed.ncbi.nlm.nih.gov/20701797Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline.
Jessica M Clarke, Mary Alikian, Sihao Xiao...
https://pubmed.ncbi.nlm.nih.gov/32303606Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia.
Claire L Shovlin, Ilenia Simeoni, Kate Downes...
https://pubmed.ncbi.nlm.nih.gov/32573726Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations.
Srimmitha Balachandar, Tamara J Graves, Anika Shimonty...
https://pubmed.ncbi.nlm.nih.gov/34904380Pulmonary arteriovenous malformations may be the only clinical criterion present in genetically confirmed hereditary haemorrhagic telangiectasia.
Emily Anderson, Lakshya Sharma, Ali Alsafi...
https://pubmed.ncbi.nlm.nih.gov/35165143Whole genome sequences discriminate hereditary hemorrhagic telangiectasia phenotypes by non-HHT deleterious DNA variation.
Katie E Joyce, Ebun Onabanjo, Sheila Brownlow...
https://pubmed.ncbi.nlm.nih.gov/35316832Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of 'gene-negative' individuals recruited to the 100 000 Genomes Project.
Claire L Shovlin, Fatma I Almaghlouth, Ali Alsafi...
https://pubmed.ncbi.nlm.nih.gov/37586837Iron deficiency responses and integrated compensations in patients according to hereditary hemorrhagic telangiectasia ACVRL1, ENG and SMAD4 genotypes.
Lakshya Sharma, Fatma Almaghlouth, Heidi Mckernan...
https://pubmed.ncbi.nlm.nih.gov/37731378