NCT03860454

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.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
150

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Mar 2019

Longer than P75 for all trials

Geographic Reach
1 country

6 active sites

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

January 15, 2019

Completed
2 months until next milestone

First Posted

Study publicly available on registry

March 4, 2019

Completed
3 days until next milestone

Study Start

First participant enrolled

March 7, 2019

Completed
5.9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 1, 2025

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

February 1, 2025

Completed
Last Updated

October 16, 2019

Status Verified

October 1, 2019

Enrollment Period

5.9 years

First QC Date

January 15, 2019

Last Update Submit

October 15, 2019

Conditions

Lamin A/C Gene MutationDilated Cardiomyopathy, Familial

Keywords

Dilated CardiomyopathyLamin A/C CardiomyopathyHeart failure

Outcome Measures

Primary Outcomes (1)

  • Positive and negative predictive value of imaging-omics test for diagnosing LMNA-related heart muscle disease.

    3-4 years

Study Arms (3)

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).

Eligibility Criteria

Age16 Years+
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-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).

You may qualify if:

  • 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.

You may not qualify if:

  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (6)

University Hospital Birmingham (UHB)

Birmingham, United Kingdom

RECRUITING

Barts Heart Center, St Bartholomew's Hospital NHS Trust

London, United Kingdom

RECRUITING

Royal Brompton Hospital NHS Trust (RBHT)

London, United Kingdom

RECRUITING

Royal Free Hospital NHS Trust (RFH)

London, United Kingdom

RECRUITING

University College London Hospital NHS Trust (UCLH)

London, United Kingdom

RECRUITING

Papworth Hopsital NHS Trust

Papworth Everard, United Kingdom

RECRUITING

Related Publications (1)

  • Topriceanu CC, Al-Farih M, Joy G, Chan F, Webber M, Ilie-Ablachim DC, Shiwani H, Tamang M, Banks C, Pettit S, Petersen SE, O'Brien B, Hughes AD, Pierce I, Moody WE, Steeds RP, Puddu PE, Kellman P, Savvatis K, Mohiddin S, Moon JC, Barison A, Piras P, Captur G. The Cardiovascular Magnetic Resonance Phenotype of Lamin Heart Disease. JACC Cardiovasc Imaging. 2025 Jun;18(6):644-660. doi: 10.1016/j.jcmg.2025.01.004. Epub 2025 May 14.

    PMID: 40372342DERIVED

MeSH Terms

Conditions

familial dilated cardiomyopathyCardiomyopathy, DilatedHeart Failure

Condition Hierarchy (Ancestors)

CardiomegalyHeart DiseasesCardiovascular DiseasesCardiomyopathiesLaminopathiesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Central Study Contacts

Prof. James C Moon, Professor of Cardiology

CONTACT

+44 (0)2034566020j.moon@ucl.ac.uk

Mashael Alfarih, Research Fellow

CONTACT

m.alfarih.17@ucl.ac.uk

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

January 15, 2019

First Posted

March 4, 2019

Study Start

March 7, 2019

Primary Completion

February 1, 2025

Study Completion

February 1, 2025

Last Updated

October 16, 2019

Record last verified: 2019-10

Data Sharing

IPD Sharing
Will not share

no sharing of individual patient data is planned.

Locations

GB(6)