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Cardiac Arrhythmias and Sudden Death in Patients Affected With Laminopathies

Study Start:  September 2015
This research study includes patients ages 1 to 20 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.


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 arranged individually (either a second visit to Barcelona or doctors will travel to see the patient).


Visit 1
Subjects will have their baseline assessments, including an echocardiogram, an electrocardiogram, a electrophysiological study, medication review, and the subcutaneous ECG holter monitor implantation.


Visit 2
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.


Inclusion Criteria:

  • 1 Year to 25 Years of Age
  • 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:

  • Any neuromuscular disorder other than LMNA related muscular dystrophy
  • Unable to comply with an echocardiogram or an electrophysiologic study
  • Unable to travel to Spain

Study Location

Pediatric Arrhythmia Unit, Hospital Sant Joan de Déu
Esplugues, Barcelona, 08950, Spain

To participate in the study, contact: 
Georgia Sarquella-Brugada, MD, PhD

Email:   This e-mail address is being protected from spambots. You need JavaScript enabled to view it ID:  NCT02601066