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Cardiac Arrhythmias and Sudden Death in Patients Affected With Laminopathies

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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.


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:   這個 E-mail 地址已經被防止灌水惡意程式保護,您需要啟用 Java Script 才能觀看 ID:  NCT02601066