Ignite Creation Date:
2024-05-06 @ 12:52 PM
Last Modification Date:
2024-10-26 @ 1:04 PM
Study NCT ID:
NCT03860454
Status:
RECRUITING
Last Update Posted:
2019-10-16
First Post:
2019-01-15
Brief Title:
The Deep Phenotype of Lamin AC Cardiomyopathy
Sponsor:
University College London
Organization:
University College London
Study Overview
Official Title:
The Deep Phenotype of Lamin AC Cardiomyopathy - A Proof-of-principle Relax-omic Pipeline
Status:
RECRUITING
Status Verified Date:
2019-10
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 seeks to discover clinically useful tests to improve the diagnosis of a rare and serious heart muscle disease caused by mutations in a gene called Lamin
Patients born with lamin gene mutations have apparently healthy hearts initially they begin experiencing symptoms in their twenties or thirties and by age 45 the majority have undergone a heart transplant experienced a major cardiac complication or have died Sudden heart rhythm abnormalities are a major cause of sudden death so earlier diagnosis can save lives by enabling timely treatment or implantation of specialised pacemakers defibrillators In clinical practice diagnosis of lamin heart disease currently relies on the genetic test Very little is known about the detailed imaging features of the hearts of patients with lamin heart disease although advanced echocardiography and cardiac MRI now offer the opportunity to study the health of the heart without the need for radiation
Patients born with lamin gene mutations have apparently healthy hearts initially they begin experiencing symptoms in their twenties or thirties and by age 45 the majority have undergone a heart transplant experienced a major cardiac complication or have died Sudden heart rhythm abnormalities are a major cause of sudden death so earlier diagnosis can save lives by enabling timely treatment or implantation of specialised pacemakers defibrillators In clinical practice diagnosis of lamin heart disease currently relies on the genetic test Very little is known about the detailed imaging features of the hearts of patients with lamin heart disease although advanced echocardiography and cardiac MRI now offer the opportunity to study the health of the heart without the need for radiation
Detailed Description:
Research participants will undergo resting 12-lead ECG 24-hour ambulatory ECG baseline echocardiography exercise echocardiography cardiac MRI scan
Blood samples will be collected in all participants from both centers for immediate laboratory testing
Blood and urine samples will be collected in all participants and used for metabolomic proteomic and lipidomic profiling and for targeted metabolite and enzyme analysis
Blood samples will be collected in all participants for future gene code analysis DNA RNA
Blood samples will be collected in all participants from both centers for immediate laboratory testing
Blood and urine samples will be collected in all participants and used for metabolomic proteomic and lipidomic profiling and for targeted metabolite and enzyme analysis
Blood samples will be collected in all participants for future gene code analysis DNA RNA
Study Oversight
Has Oversight DMC:
None
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?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 17LO0167 | OTHER | REC reference | None |