Cardiomyopathy Associated With Myopathy and Sudden DeathNCT02601066
Cardiac Arrhythmias and Sudden Death in Patients Affected With Laminopathies
A study testing Electrophysiological Study and ECG holter monitor in people with Cardiomyopathy Associated With Myopathy and Sudden Death, run by Hospital Sant Joan de Deu at 1 site in Spain.
Trial summary
This research study includes patients ages 1 to 25 years old with Lamin A/C related muscular dystrophy (LMNA-MD). The goal of this study is to evaluate how the heart is affected in children and teens with LMNA-MD. Read more about this study
- Who is it for?
- Ages 1 year to 25 years
- Conditions the study is for
- Cardiomyopathy Associated With Myopathy and Sudden Death
- What is being tested?
- Electrophysiological Study and ECG holter monitor
- Type of treatment
- Medical device
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 40 participants
- Where
- 1 siteSpain
- Study dates
- Sep 2015to Sep 2019
- Phase
- Interventional
- 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 1 year to 25 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- Age of onset of muscle weakness between birth and 5 years of age
- Confirmed LMNA related muscular dystrophy by gene mutation AND clinical history
Who cannot join
- ny neuromuscular disorder other than LMNA related muscular dystrophy
- unable to comply with an echocardiogram or an electrophysiologic study
Trial locations and contacts
1 site in 1 country.
Georgia Sarquella-Brugada, MD, PhD contact
Spain1 site, 1 recruiting
- Recruiting
Pediatric Arrhythmia Unit, Hospital Sant Joan de Déu
Esplugues, Barcelona, 08950
Georgia Sarquella-Brugada, MD, PhD, georgia@brugada.org
About this study
Official title: Identification of Predictors of Cardiac Arrhythmias and Sudden Death in Pediatric Patients Affected With Laminopathies
This research study includes patients ages 1 to 25 years old with Lamin A/C related muscular dystrophy (LMNA-MD). The goal of this study is to evaluate how the heart is affected in children and teens with LMNA-MD. The evaluation includes an echocardiogram, an electrocardiogram, an electrophysiological study and the implantation of a subcutaneous ECG holter monitor.
Read the detailed description
The LMNA related muscular dystrophies are monogenic progressive neuromuscular disorders. Affected pediatric patients can present at birth or in childhood and are classified as either congenital muscular dystrophy (LMNA-CMD), congenital onset Limb-girdle muscular dystrophy type 1B (LGMD1B) or childhood onset Emery Dreifuss muscular dystrophy (EDMD). These distinct clinical presentations all involve variants in the LMNA gene and can be distinguished by method of inheritance. Those with LMNA-CMD have new mutations in the LMNA gene not carried by either parent, while those with LGMD1B and EDMD will have a parent who may or not have symptoms with the same variant (change in the LMNA gene). There is no current cure or treatment for LMNA-MD.
While heart involvement has been studied for the adult forms of LMNA muscular dystrophy. These studies have identified an increased risk for arrhythmia (abnormal heart rhythms), conduction defects, cardiomyopathy and sudden cardiac death. To date there has been no study evaluating the age of onset of heart involvement, the type of heart involvement, the rate of heart disease progression and the risk of sudden cardiac death in children affected with LMNA-MD. The investigators' research aims to evaluate heart involvement in children and teens affected by LMNA-MD.
This is a prospective interventional natural history study. The intervention consists of 3 steps: 1) High complexity echocardiography, 2) Electrophysiological Study, 3) subcutaneous ECG holter monitor implantation.
The duration of the active protocol will last 3 years. Potential subjects will be identified through the Spanish muscular dystrophy network and the Congenital Muscle Disease International Registry. The study will involve one on-site visit at Sant Joan de Déu Hospital in Barcelona, Spain; and a yearly follow-up that will be arrange individually (either a second visit to Barcelona or doctors will travel to see the patient).
At Visit 1, subjects will have their baseline assessments, including an echocardiogram, an electrocardiogram, a electrophysiological study and medication review and the subcutaneous ECG holter monitor implantation.
The second study visit will occur 12-14 months after the first study visit. Remote monitoring through the holter device will continue for 36 months after placement of the device.
For those individuals traveling from outside Spain, travel arrangements will be eased by Andres Marcio Foundation
- Being tested
- Electrophysiological Study and ECG holter monitor
- Keywords
- LMNA, Sudden Death, Neuromuscular
- Medical subject headings
- Cardiomyopathy Associated With Myopathy And Sudden Death, Death, Sudden
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Electrophysiological Study and ECG holter monitorDevice
Electrophysiological Study and ECG holter monitor implantation
| Study group | Role | What they receive |
|---|---|---|
| EPS and ECG holter monitor | Experimental | Electrophysiological study (EPS) and ECG holter monitor implantation Receives: Device: Electrophysiological Study and ECG holter monitor |
What is being measured
The primary outcome is the main question the study is designed to answer.
Ejection Fraction (%)
Heart involvement has been studies for the adult forms of LMNA muscular dystrophy. These studies have identified an increased risk for arrhythmia (abnormal heart rhythms), conduction defects, cardiomyopathy and sudden cardiac death. To date there has been no study evaluating the age of onset of heart involvement, the type of heart involvement, the rate of heart disease progression and the risk of sudden cardiac death in children affected with LMNA-MD.
Outcome Measures: Ejection Fraction%, Strain Rate, time of arrhythmia in 24 hours, type of arrhythmia.
Measured: 4 years
Strain (%)
Myocardial deformation (strain) can be obtained based on Tissue Doppler Imaging (TDI) or on bidimensional images (speckle tracking). TDI allows better time definition and can be also used in case of poor echocardiographic windows. Analyses from bidimensional images allow assessment of radial and circumferencial strain, as well as apical and basal rotation, needed to calculate ventricular torsion. Normal values of longitudinal LV deformation are between -20 to -25 %.
Measured: 4 years
Strain Rate (%/s)
Rate of myocardial deformation in time. Diastolic myocardial deformation can be assessed more clearly in this way. Normal values of longitudinal LV deformation are 1 - 1.5/s or higher.
Measured: 4 years
Presence of arrhythmias (yes/no)
By inserting the Holter monitoring system, presence or absence of arrhythmias can be assessed.
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Nov 2015 (estimated)
- Study startSep 2015
- Primary completionDec 2018 (estimated)
- Study completionSep 2019 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Cardiomyopathy Associated With Myopathy and Sudden DeathStudies of the same condition, open and under way.
- 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Prevention
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 40 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Hospital Sant Joan de Deu
- Sponsor type
- University, hospital or other
- Collaborators
- Marcio Andres Foundation
- Responsible party
- Principal investigator, Georgia Sarquella Brugada, MD PhD, Hospital Sant Joan de Deu
- Investigators
- Georgia Sarquella-Brugada, MD, PhD, Principal investigator, Hospital Sant Joan de Deu
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02601066
- Sponsor's protocol ID
- CARDIO-2015-01 LMNA
- Status last verified
- Apr 2016
- First submitted
- 26 Oct 2015
- Last updated
- 6 Apr 2016
- Results posted
- No
- Data monitoring committee
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 6 Apr 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification of Predictors of Cardiac Arrhythmias and Sudden Death in Pediatric Patients Affected With Laminopathies
- ClinicalTrials.gov ID
- NCT02601066
- Acronym / sponsor ID
- CARDIO-2015-01 LMNA
- Keywords
- LMNA, Sudden Death, Neuromuscular
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 40 participants (estimated)
- Lead sponsor
- Hospital Sant Joan de DeuUniversity, hospital or other
- Collaborators
- Marcio Andres Foundation
- Study start
- Sep 2015
- Primary completion
- Dec 2018 (estimated)
- Study completion
- Sep 2019 (estimated)
- First posted
- 10 Nov 2015 (estimated)
- 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 research study includes patients ages 1 to 25 years old with Lamin A/C related muscular dystrophy (LMNA-MD). The goal of this study is to evaluate how the heart is affected in children and teens with LMNA-MD. The evaluation includes an echocardiogram, an electrocardiogram, an electrophysiological study and the implantation of a subcutaneous ECG holter monitor.
Detailed description
The LMNA related muscular dystrophies are monogenic progressive neuromuscular disorders. Affected pediatric patients can present at birth or in childhood and are classified as either congenital muscular dystrophy (LMNA-CMD), congenital onset Limb-girdle muscular dystrophy type 1B (LGMD1B) or childhood onset Emery Dreifuss muscular dystrophy (EDMD). These distinct clinical presentations all involve variants in the LMNA gene and can be distinguished by method of inheritance. Those with LMNA-CMD have new mutations in the LMNA gene not carried by either parent, while those with LGMD1B and EDMD will have a parent who may or not have symptoms with the same variant (change in the LMNA gene). There is no current cure or treatment for LMNA-MD.
While heart involvement has been studied for the adult forms of LMNA muscular dystrophy. These studies have identified an increased risk for arrhythmia (abnormal heart rhythms), conduction defects, cardiomyopathy and sudden cardiac death. To date there has been no study evaluating the age of onset of heart involvement, the type of heart involvement, the rate of heart disease progression and the risk of sudden cardiac death in children affected with LMNA-MD. The investigators' research aims to evaluate heart involvement in children and teens affected by LMNA-MD.
This is a prospective interventional natural history study. The intervention consists of 3 steps: 1) High complexity echocardiography, 2) Electrophysiological Study, 3) subcutaneous ECG holter monitor implantation.
The duration of the active protocol will last 3 years. Potential subjects will be identified through the Spanish muscular dystrophy network and the Congenital Muscle Disease International Registry. The study will involve one on-site visit at Sant Joan de Déu Hospital in Barcelona, Spain; and a yearly follow-up that will be arrange individually (either a second visit to Barcelona or doctors will travel to see the patient).
At Visit 1, subjects will have their baseline assessments, including an echocardiogram, an electrocardiogram, a electrophysiological study and medication review and the subcutaneous ECG holter monitor implantation.
The second study visit will occur 12-14 months after the first study visit. Remote monitoring through the holter device will continue for 36 months after placement of the device.
For those individuals traveling from outside Spain, travel arrangements will be eased by Andres Marcio Foundation
Study design
- Primary purpose
- Prevention
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| EPS and ECG holter monitor | Experimental | Device: Electrophysiological Study and ECG holter monitorElectrophysiological study (EPS) and ECG holter monitor implantation |
Who may qualify
- Ages
- 1 year to 25 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (2 listed)
- Age of onset of muscle weakness between birth and 5 years of age
- Confirmed LMNA related muscular dystrophy by gene mutation AND clinical history
Key exclusion criteria (2 listed)
- ny neuromuscular disorder other than LMNA related muscular dystrophy
- unable to comply with an echocardiogram or an electrophysiologic study
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Electrophysiological Study and ECG holter monitorElectrophysiological Study and ECG holter monitor implantation | Device | EPS and ECG holter monitor |
Primary outcome
Ejection Fraction (%)
Time frame: 4 years
Heart involvement has been studies for the adult forms of LMNA muscular dystrophy. These studies have identified an increased risk for arrhythmia (abnormal heart rhythms), conduction defects, cardiomyopathy and sudden cardiac death. To date there has been no study evaluating the age of onset of heart involvement, the type of heart involvement, the rate of heart disease progression and the risk of sudden cardiac death in children affected with LMNA-MD. Outcome Measures: Ejection Fraction%, Strain Rate, time of arrhythmia in 24 hours, type of arrhythmia.
Strain (%)
Time frame: 4 years
Myocardial deformation (strain) can be obtained based on Tissue Doppler Imaging (TDI) or on bidimensional images (speckle tracking). TDI allows better time definition and can be also used in case of poor echocardiographic windows. Analyses from bidimensional images allow assessment of radial and circumferencial strain, as well as apical and basal rotation, needed to calculate ventricular torsion. Normal values of longitudinal LV deformation are between -20 to -25 %.
Strain Rate (%/s)
Time frame: 4 years
Rate of myocardial deformation in time. Diastolic myocardial deformation can be assessed more clearly in this way. Normal values of longitudinal LV deformation are 1 - 1.5/s or higher.
Presence of arrhythmias (yes/no)
Time frame: 3 years
By inserting the Holter monitoring system, presence or absence of arrhythmias can be assessed.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Apr 2016.
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.
Georgia Sarquella-Brugada, MD, PhD contact
Georgia Sarquella-Brugada, MD, PhD principal investigator
Hospital Sant Joan de Deu
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Electrophysiological Study and ECG holter monitor in people with Cardiomyopathy Associated With Myopathy and Sudden Death, run by Hospital Sant Joan de Deu at 1 site in Spain.
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 2 inclusion and 2 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 6 Apr 2016. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Spain. 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 Georgia Sarquella-Brugada, MD, PhD (georgia@brugada.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Ejection Fraction (%) (time frame: 4 years). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 6 Apr 2016.