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The Deep Phenotype of Lamin A/C Cardiomyopathy

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ClinicalTrials.gov Identifier: NCT03860454
Recruitment Status : Recruiting
First Posted : March 4, 2019
Last Update Posted : October 16, 2019
Sponsor:
Collaborators:
NIHR Rare Diseases Translational Research Collaboration
Barts Cardiovascular registry
Information provided by (Responsible Party):
University College, London

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.


Condition or disease
Lamin A/C Gene Mutation Dilated Cardiomyopathy, Familial

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).

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Study Type : Observational
Estimated Enrollment : 150 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: The Deep Phenotype of Lamin A/C Cardiomyopathy - A Proof-of-principle Relax-omic Pipeline
Actual Study Start Date : March 7, 2019
Estimated Primary Completion Date : February 1, 2025
Estimated Study Completion Date : February 1, 2025


Group/Cohort
Lamin DCM (LMNA+)
Adults with known pathogenic lamin (LMNA+) gene mutation.
Wild types DCM (DCMwt)
Adults with heart muscle failure but normal (wild-type) LMNA gene (DCMwt).
Healthy Volunteers (HV)
Matched healthy volunteers (HV).



Primary Outcome Measures :
  1. Positive and negative predictive value of imaging-omics test for diagnosing LMNA-related heart muscle disease. [ Time Frame: 3-4 years ]


Information from the National Library of Medicine

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Ages Eligible for Study:   16 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Adults with known pathogenic lamin (LMNA+) gene mutations, adults with heart muscle failure but normal (wild-type) LMNA gene (DCMWT) and matched healthy volunteers (HV).
Criteria

Inclusion Criteria:

  • 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 Criteria:

  • 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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03860454


Contacts
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Contact: Prof. James C Moon, Professor of Cardiology +44 (0)2034566020 j.moon@ucl.ac.uk
Contact: Mashael Alfarih, Research Fellow m.alfarih.17@ucl.ac.uk

Locations
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United Kingdom
University Hospital Birmingham (UHB) Recruiting
Birmingham, United Kingdom
Principal Investigator: Dr Rick Steeds, Consultant Cardiologist         
Barts Heart Center, St Bartholomew's Hospital NHS Trust Recruiting
London, United Kingdom
Contact: James C Moon, Professor of Cardiology    +44 (0)2034566020    j.moon@ucl.ac.uk   
Principal Investigator: Dr Saidi Mohiddin, Consultant Cardiologist         
Royal Brompton Hospital NHS Trust (RBHT) Recruiting
London, United Kingdom
Principal Investigator: Dr Sanjay Prasad, Consultant Cardiologist         
Royal Free Hospital NHS Trust (RFH) Recruiting
London, United Kingdom
Principal Investigator: Dr Gabriella Captur, Consultant Cardiologist         
University College London Hospital NHS Trust (UCLH) Recruiting
London, United Kingdom
Principal Investigator: Dr Simon J Woldman, Consultant Cardiologist         
Papworth Hopsital NHS Trust Recruiting
Papworth Everard, United Kingdom
Principal Investigator: Dr Stephen Pettit, Consultant Cardiologist         
Sponsors and Collaborators
University College, London
NIHR Rare Diseases Translational Research Collaboration
Barts Cardiovascular registry

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Responsible Party: University College, London
ClinicalTrials.gov Identifier: NCT03860454     History of Changes
Other Study ID Numbers: 16/0661
17/LO/0167 ( Other Identifier: REC reference )
First Posted: March 4, 2019    Key Record Dates
Last Update Posted: October 16, 2019
Last Verified: October 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Plan Description: no sharing of individual patient data is planned.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by University College, London:
Dilated Cardiomyopathy
Lamin A/C Cardiomyopathy
Heart failure
Additional relevant MeSH terms:
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Cardiomyopathies
Cardiomyopathy, Dilated
Heart Diseases
Cardiovascular Diseases
Cardiomegaly