We updated the design of this site on December 18, 2017. Learn more.
ClinicalTrials.gov
ClinicalTrials.gov Menu

Cardiac Arrhythmias and Sudden Death in Patients Affected With Laminopathies

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT02601066
Recruitment Status : Recruiting
First Posted : November 10, 2015
Last Update Posted : April 6, 2016
Sponsor:
Collaborator:
Information provided by (Responsible Party):

October 26, 2015
November 10, 2015
April 6, 2016
September 2015
December 2018   (Final data collection date for primary outcome measure)
  • 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.
Same as current
Complete list of historical versions of study NCT02601066 on ClinicalTrials.gov Archive Site
Not Provided
Not Provided
Not Provided
Not Provided
 
Cardiac Arrhythmias and Sudden Death in Patients Affected With Laminopathies
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.

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

Interventional
Not Provided
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Prevention
Cardiomyopathy Associated With Myopathy and Sudden Death
Device: Electrophysiological Study and ECG holter monitor
Electrophysiological Study and ECG holter monitor implantation
Experimental: EPS and ECG holter monitor
Electrophysiological study (EPS) and ECG holter monitor implantation
Intervention: Device: Electrophysiological Study and ECG holter monitor
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
40
September 2019
December 2018   (Final data collection date for primary outcome measure)

Inclusion Criteria:

  • Age of onset of muscle weakness between birth and 5 years of age
  • Confirmed LMNA related muscular dystrophy by gene mutation AND clinical history

Exclusion Criteria:

  • ny neuromuscular disorder other than LMNA related muscular dystrophy
  • unable to comply with an echocardiogram or an electrophysiologic study
Sexes Eligible for Study: All
1 Year to 25 Years   (Child, Adult)
No
Contact: Georgia Sarquella-Brugada, MD, PhD georgia@brugada.org
Spain
 
 
NCT02601066
CARDIO-2015-01 LMNA
Yes
Not Provided
Not Provided
Georgia Sarquella Brugada, MD PhD, Hospital Sant Joan de Deu
Hospital Sant Joan de Deu
Marcio Andres Foundation
Principal Investigator: Georgia Sarquella-Brugada, MD, PhD Hospital Sant Joan de Deu
Hospital Sant Joan de Deu
April 2016

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP