Molecular Studies on Hereditary Haemorrhagic Telangiectas... | NCT00230620

Studies
Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families

NCT00230620

Sponsor

Imperial College London

Status

Recruiting

Last Update Posted

Sep 28, 2023Actual

Enrollment

1,000Estimated

Phase

Not provided

Conditions

Telangiectasia, Hereditary Hemorrhagic

Interventions

Not provided

Countries

United Kingdom

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Sep 2023

Overall Recruitment Status or Expanded Access Status

Recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Dec 1998Actual

Primary Completion Date

Apr 2030Estimated

Completion Date

Apr 2030Estimated

First Submitted Date

Sep 29, 2005

First Submission Date that Met QC Criteria

Sep 29, 2005

First Posted Date

Oct 3, 2005Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Sep 25, 2023

Last Update Posted Date

Sep 28, 2023Actual

Name	Class
British Heart Foundation	OTHER

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

1,000Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Individuals with HHT and their families		No intervention - blood or saliva sample only

Interventions

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

Member of family affected by HHT

Exclusion Criteria:

Unable or unwilling to provide informed consent for DNA sample

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Patients with hereditary haemorrhagic telangiectasia and their families

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Claire L Shovlin	Contact	0208 383 1000		c.shovlin@imperial.ac.uk

Overall Officials

Name	Affiliation	Role
Claire L Shovlin	Imperial College London	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Imperial College Hammersmith Campus	Recruiting	London		W12 0NN	United Kingdom

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
15994879	Result	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.
20701797	Result	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.

ID	Term
D020141	Hemostatic Disorders
D014652	Vascular Diseases
D002318	Cardiovascular Diseases
D013684	Telangiectasis