ClinicalTrials.gov
ClinicalTrials.gov Menu
Trial record 30 of 617 for:    Recruiting, Not yet recruiting, Available Studies | "Muscular Diseases"

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:
Marcio Andres Foundation
Information provided by (Responsible Party):
Georgia Sarquella Brugada, MD PhD, Hospital Sant Joan de Deu

Brief 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. The evaluation includes an echocardiogram, an electrocardiogram, an electrophysiological study and the implantation of a subcutaneous ECG holter monitor.

Condition or disease Intervention/treatment Phase
Cardiomyopathy Associated With Myopathy and Sudden Death Device: Electrophysiological Study and ECG holter monitor Not Applicable

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 Type : Interventional  (Clinical Trial)
Estimated Enrollment : 40 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Prevention
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

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Arrhythmia

Arm Intervention/treatment
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




Primary Outcome Measures :
  1. 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.


  2. 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 %.

  3. 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.

  4. Presence of arrhythmias (yes/no) [ Time Frame: 3 years ]
    By inserting the Holter monitoring system, presence or absence of arrhythmias can be assessed.



Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   1 Year to 25 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02601066


Contacts
Contact: Georgia Sarquella-Brugada, MD, PhD georgia@brugada.org

Locations
Spain
Pediatric Arrhythmia Unit, Hospital Sant Joan de Déu Recruiting
Esplugues, Barcelona, Spain, 08950
Contact: Georgia Sarquella-Brugada, MD, PhD       georgia@brugada.org   
Sponsors and Collaborators
Hospital Sant Joan de Deu
Marcio Andres Foundation
Investigators
Principal Investigator: Georgia Sarquella-Brugada, MD, PhD Hospital Sant Joan de Deu

Responsible Party: Georgia Sarquella Brugada, MD PhD, MD, PhD, Hospital Sant Joan de Deu
ClinicalTrials.gov Identifier: NCT02601066     History of Changes
Other Study ID Numbers: CARDIO-2015-01 LMNA
First Posted: November 10, 2015    Key Record Dates
Last Update Posted: April 6, 2016
Last Verified: April 2016

Keywords provided by Georgia Sarquella Brugada, MD PhD, Hospital Sant Joan de Deu:
LMNA
Sudden Death
Neuromuscular

Additional relevant MeSH terms:
Cardiomyopathies
Death
Arrhythmias, Cardiac
Death, Sudden
Heart Diseases
Cardiovascular Diseases
Pathologic Processes