Cardiac Arrhythmias and Sudden Death in Patients Affected With Laminopathies
|ClinicalTrials.gov Identifier: NCT02601066|
Recruitment Status : Recruiting
First Posted : November 10, 2015
Last Update Posted : April 6, 2016
|Condition or disease||Intervention/treatment||Phase|
|Cardiomyopathy Associated With Myopathy and Sudden Death||Device: Electrophysiological Study and ECG holter monitor||Not Applicable|
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 Type :||Interventional (Clinical Trial)|
|Estimated Enrollment :||40 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|Official Title:||Identification of Predictors of Cardiac Arrhythmias and Sudden Death in Pediatric Patients Affected With Laminopathies|
|Study Start Date :||September 2015|
|Estimated Primary Completion Date :||December 2018|
|Estimated Study Completion Date :||September 2019|
Experimental: EPS and ECG holter monitor
Electrophysiological study (EPS) and ECG holter monitor implantation
Device: Electrophysiological Study and ECG holter monitor
Electrophysiological Study and ECG holter monitor implantation
- 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.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02601066
|Contact: Georgia Sarquella-Brugada, MD, PhDfirstname.lastname@example.org|
|Pediatric Arrhythmia Unit, Hospital Sant Joan de Déu||Recruiting|
|Esplugues, Barcelona, Spain, 08950|
|Contact: Georgia Sarquella-Brugada, MD, PhD email@example.com|
|Principal Investigator:||Georgia Sarquella-Brugada, MD, PhD||Hospital Sant Joan de Deu|