Working…
ClinicalTrials.gov
ClinicalTrials.gov Menu

The Deep Phenotype of Lamin A/C Cardiomyopathy

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
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

Tracking Information
First Submitted Date January 15, 2019
First Posted Date March 4, 2019
Last Update Posted Date October 16, 2019
Actual Study Start Date March 7, 2019
Estimated Primary Completion Date February 1, 2025   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: March 1, 2019)
Positive and negative predictive value of imaging-omics test for diagnosing LMNA-related heart muscle disease. [ Time Frame: 3-4 years ]
Original Primary Outcome Measures Same as current
Change History Complete list of historical versions of study NCT03860454 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title The Deep Phenotype of Lamin A/C Cardiomyopathy
Official Title The Deep Phenotype of Lamin A/C Cardiomyopathy - A Proof-of-principle Relax-omic Pipeline
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.

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).
Study Type Observational
Study Design Observational Model: Case-Control
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
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).
Condition
  • Lamin A/C Gene Mutation
  • Dilated Cardiomyopathy, Familial
Intervention Not Provided
Study Groups/Cohorts
  • 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).
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: March 1, 2019)
150
Original Estimated Enrollment Same as current
Estimated Study Completion Date February 1, 2025
Estimated Primary Completion Date February 1, 2025   (Final data collection date for primary outcome measure)
Eligibility 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.
Sex/Gender
Sexes Eligible for Study: All
Ages 16 Years and older   (Child, Adult, Older Adult)
Accepts Healthy Volunteers Yes
Contacts
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
Listed Location Countries United Kingdom
Removed Location Countries  
 
Administrative Information
NCT Number NCT03860454
Other Study ID Numbers 16/0661
17/LO/0167 ( Other Identifier: REC reference )
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: No
Plan Description: no sharing of individual patient data is planned.
Responsible Party University College, London
Study Sponsor University College, London
Collaborators
  • NIHR Rare Diseases Translational Research Collaboration
  • Barts Cardiovascular registry
Investigators Not Provided
PRS Account University College, London
Verification Date October 2019