Cardiomyopathy Associated With Myopathy and Sudden Death Clinical Trial
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.
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
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Endpoint Classification: Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Prevention