Ignite Creation Date:
2024-05-06 @ 7:47 AM
Last Modification Date:
2024-10-26 @ 11:52 AM
Study NCT ID:
NCT02601066
Status:
UNKNOWN
Last Update Posted:
2016-04-06
First Post:
2015-10-26
Brief Title:
Cardiac Arrhythmias and Sudden Death in Patients Affected With Laminopathies
Sponsor:
Hospital Sant Joan de Deu
Organization:
Hospital Sant Joan de Deu
Study Overview
Official Title:
Identification of Predictors of Cardiac Arrhythmias and Sudden Death in Pediatric Patients Affected With Laminopathies
Status:
UNKNOWN
Status Verified Date:
2016-04
Last Known Status:
RECRUITING
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
This research study includes patients ages 1 to 25 years old with Lamin AC 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
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
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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None