Status:
UNKNOWN
The Deep Phenotype of Lamin A/C Cardiomyopathy
Lead Sponsor:
University College, London
Collaborating Sponsors:
National Institute for Health Research, United Kingdom
Barts Cardiovascular registry
Conditions:
Lamin A/C Gene Mutation
Dilated Cardiomyopathy, Familial
Eligibility:
All Genders
16+ years
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 mu...
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 parti...
Eligibility Criteria
Inclusion
- LMNA+ cases with pathogenic LMNA mutations for LMNA+ and heart myocardial samples from the explanted hearts of LMNA+ patients who are scheduled to undergo clinically indicated heart transplantation at the Papworth Hospital NHS Trust.
- DCMWT cases: patients with heart muscle failure but with wild-type lamin gene. Heart myocardial samples from the explanted hearts of DCMWT patients who are scheduled to undergo clinically indicated heart transplantation at the Papworth Hospital NHS Trust.
- HV (controls): matched to cases.
Exclusion
- Needle-phobia that would preclude blood-letting
- Participants unwilling to consent
- Patients that have a conventional contraindication for cardiac magnetic resonance imaging (MRI).
- Patients that have had a blood transfusion within the last month and patients having haemodialysis will be excluded.
Key Trial Info
Start Date :
March 7 2019
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
February 1 2025
Estimated Enrollment :
150 Patients enrolled
Trial Details
Trial ID
NCT03860454
Start Date
March 7 2019
End Date
February 1 2025
Last Update
October 16 2019
Active Locations (6)
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1
University Hospital Birmingham (UHB)
Birmingham, United Kingdom
2
Barts Heart Center, St Bartholomew's Hospital NHS Trust
London, United Kingdom
3
Royal Brompton Hospital NHS Trust (RBHT)
London, United Kingdom
4
Royal Free Hospital NHS Trust (RFH)
London, United Kingdom