Lamin A/C Gene MutationNCT03860454
The Deep Phenotype of Lamin A/C Cardiomyopathy
An observational study of Lamin A/C Gene Mutation and Dilated Cardiomyopathy, Familial, run by University College, London at 6 sites in United Kingdom.
Trial 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… Read more about this study
- Who is it for?
- Ages 16 years and olderHealthy volunteers can take part
- Conditions the study is for
- Lamin A/C Gene Mutation, Dilated Cardiomyopathy, Familial
- How many people
- 150 participants
- Where
- 6 sitesUnited Kingdom
- Study dates
- 7 Mar 2019to 1 Feb 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 16 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
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).
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
6 sites in 1 country.
Mashael Alfarih, Research Fellow contact
6 sites in 1 country
United Kingdom6 sites, 6 recruiting
- Recruiting
University Hospital Birmingham (UHB)
Birmingham
Dr Rick Steeds, Consultant Cardiologist
- Recruiting
Barts Heart Center, St Bartholomew's Hospital NHS Trust
London
James C Moon, Professor of Cardiology, +44 (0)2034566020, j.moon@ucl.ac.uk
Dr Saidi Mohiddin, Consultant Cardiologist
- Recruiting
Royal Brompton Hospital NHS Trust (RBHT)
London
Dr Sanjay Prasad, Consultant Cardiologist
- Recruiting
Royal Free Hospital NHS Trust (RFH)
London
Dr Gabriella Captur, Consultant Cardiologist
- Recruiting
University College London Hospital NHS Trust (UCLH)
London
Dr Simon J Woldman, Consultant Cardiologist
- Recruiting
Papworth Hopsital NHS Trust
Papworth Everard
Dr Stephen Pettit, Consultant Cardiologist
About this study
Official title: The Deep Phenotype of Lamin A/C Cardiomyopathy - A Proof-of-principle Relax-omic Pipeline
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.
Read the 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).
- Keywords
- Dilated Cardiomyopathy, Lamin A/C Cardiomyopathy, Heart failure
- Medical subject headings
- familial dilated cardiomyopathy, Cardiomyopathy, Dilated, Heart Failure
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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). |
What is being measured
The primary outcome is the main question the study is designed to answer.
Positive and negative predictive value of imaging-omics test for diagnosing LMNA-related heart muscle disease.
Measured: 3-4 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Mar 2019
- Study start7 Mar 2019
- Primary completion1 Feb 2025 (estimated)
- Study completion1 Feb 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Lamin A/C Gene MutationStudies of the same condition, open and under way.
- More trials run by University College, LondonThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 150 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University College, London
- Sponsor type
- University, hospital or other
- Collaborators
- National Institute for Health Research, United Kingdom, Barts Cardiovascular registry
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03860454
- Sponsor's protocol ID
- 16/0661
- Other IDs
- 17/LO/0167
- Status last verified
- Oct 2019
- First submitted
- 15 Jan 2019
- Last updated
- 16 Oct 2019
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: no sharing of individual patient data is planned.
Publications
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.
PubMed 40372342
Study at a glance
From the registry record, last updated by the sponsor on 16 Oct 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Deep Phenotype of Lamin A/C Cardiomyopathy - A Proof-of-principle Relax-omic Pipeline
- ClinicalTrials.gov ID
- NCT03860454
- Acronym / sponsor ID
- 16/0661
- Keywords
- Dilated Cardiomyopathy, Lamin A/C Cardiomyopathy, Heart failure
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 150 participants (estimated)
- Lead sponsor
- University College, LondonUniversity, hospital or other
- Collaborators
- National Institute for Health Research, United Kingdom, Barts Cardiovascular registry
- Study start
- 7 Mar 2019 (actual)
- Primary completion
- 1 Feb 2025 (estimated)
- Study completion
- 1 Feb 2025 (estimated)
- First posted
- 4 Mar 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| 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). |
Who may qualify
- Ages
- 16 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- 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).
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (4 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Positive and negative predictive value of imaging-omics test for diagnosing LMNA-related heart muscle disease.
Time frame: 3-4 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Oct 2019.
- Derived from this study: PubMed 40372342Topriceanu 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.
- Individual participant dataSharing planned: No. no sharing of individual patient data is planned.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Mashael Alfarih, Research Fellow contact
6 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Lamin A/C Gene Mutation and Dilated Cardiomyopathy, Familial, run by University College, London at 6 sites in United Kingdom.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 16 Oct 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 6 sites in United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Prof. James C Moon, Professor of Cardiology (+44 (0)2034566020, j.moon@ucl.ac.uk), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Positive and negative predictive value of imaging-omics test for diagnosing LMNA-related heart muscle disease. (time frame: 3-4 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03860454, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Oct 2019.