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The Deep Phenotype of Lamin A/C Cardiomyopathy

NCT03860454 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 150

Last updated 2019-10-16

No results posted yet for this study

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.

Conditions

  • Lamin A/C Gene Mutation
  • Dilated Cardiomyopathy, Familial

Sponsors & Collaborators

  • National Institute for Health Research, United Kingdom

    collaborator OTHER_GOV

  • Barts Cardiovascular registry

    collaborator UNKNOWN

  • University College, London

    lead OTHER

Eligibility

Min Age
16 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2019-03-07
Primary Completion
2025-02-01
Completion
2025-02-01

Countries

  • United Kingdom

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03860454 on ClinicalTrials.gov