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RAMYD Study - Evaluation of Arrhythmic Risk in Myotonic Dystrophy

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. Read our disclaimer for details. Identifier: NCT00127582
Recruitment Status : Unknown
Verified May 2005 by Catholic University of the Sacred Heart.
Recruitment status was:  Recruiting
First Posted : August 8, 2005
Last Update Posted : August 25, 2005
Fondazione Telethon
Information provided by:
Catholic University of the Sacred Heart

Brief Summary:
This is a prospective multicentric Italian study to evaluate the arrhythmic risk in myotonic dystrophy type 1.

Condition or disease Intervention/treatment Phase
Myotonic Dystrophy Sudden Cardiac Death Procedure: Electrophysiological study Device: pacemaker (PM) implant, internal cardiac defibrillator (ICD) implant, loop-recorder implant Phase 3

Detailed Description:

Myotonic dystrophy type 1 (DM1, Steinert disease) is a multisystem disorder that affects, beside muscle, several other organs, including the heart.

Cardiac involvement represents a major problem in the clinical management of patients, so that cardiac complications represent one of the primary causes of premature death in DM1. In particular there is a high incidence of sudden death, ranging from 2 to 30% of cases, so far principally related to the development of conduction blocks. However, literature reports of sudden death in patients implanted with pacemakers, as well as of spontaneous ventricular tachycardia would suggest a potential etiologic role also for ventricular arrhythmias. The lack of clinical research studies conducted on a large number of patients does not make available definite data regarding the etiology and the epidemiology of arrhythmic events in DM1. For the same reasons, other considerable topics, such as prognostic stratification of the arrhythmic risk and clinical management of life-threatening arrhythmias in DM1 patients, are still undefined.

To clarify these issues, the investigators propose a clinical research study performed on a large cohort of DM1 patients enrolled through a multicenter collaboration that also involves 5 cardiological-neurological Italian centres.

Aims of this study are:

  • To estimate the incidence of arrhythmias and to characterize the brady-tachyarrhythmic mechanisms underlying the occurrence of cardiac sudden death in DM1;
  • To verify by statistical analysis the reliability of data obtained from both non invasive and invasive diagnostic procedures as indexes useful for estimating the arrhythmic risk in DM1;
  • To identify more adequate therapeutic guidelines in order to prevent the occurrence of life-threatening arrhythmias.

The protocol of study includes:

  1. Clinical-genetic evaluation;
  2. Non invasive and invasive diagnostic cardiac procedures;
  3. The use of devices for diagnostic and therapeutic follow-up.

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Study Type : Interventional  (Clinical Trial)
Enrollment : 537 participants
Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: Evaluation of Arrhythmic Risk in Myotonic Dystrophy Type I (DM 1)
Study Start Date : January 2003

Primary Outcome Measures :
  1. Evaluate incidence of: major cardiac events (sudden death
  2. resuscitated cardiac arrest
  3. ventricular fibrillation
  4. sustained ventricular tachycardia
  5. sinoatrial and atrioventricular [AV] blocks)

Secondary Outcome Measures :
  1. Evaluate with diagnostic non-invasive (standard electrocardiogram [ECG]
  2. 24-hour monitoring ECG
  3. signal-averaged ECG
  4. echocardiography) and invasive procedures (electrophysiology study [EPS] and implantable loop recorders) the risk to develop cardiac arrhythmias in DM patients

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 70 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Patient affected by myotonic dystrophy type I (MD1).
  • Patient willing to provide a signed informed consent.

Exclusion Criteria:

  • Age < 18 years old or >70 years old.
  • Ischemic cardiomyopathy
  • Cardiomyopathy due to chronic excess of alcohol consumption (>100 g\day)
  • Congenital heart disease
  • Acquired valvular heart disease
  • Metabolic cardiomyopathy: thyrotoxicosis, hypothyroidism, adrenal cortical insufficiency, pheochromocytoma, acromegaly
  • Familiar storage and infiltrative diseases (hemochromatosis, glycogen storage, Hurler’s syndrome, Niemann-Pick disease; primary, secondary, familial and hereditary cardiac amyloidoses)
  • Systemic diseases (connective tissue disorder; sarcoidosis)
  • Peripartum cardiomyopathy

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 identifier (NCT number): NCT00127582

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Contact: Fulvio Bellocci, MD +390630154187
Contact: Antonio Dello Russo, MD +393393971873

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Catholic University of Sacred Heart Recruiting
Rome, Italy, 00168
Contact: Fulvio Bellocci, MD    +390630154187   
Principal Investigator: Fulvio Bellocci, MD         
Sponsors and Collaborators
Catholic University of the Sacred Heart
Fondazione Telethon
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Principal Investigator: Fulvio Bellocci, MD Catholic University of Sacred Heart

Publications automatically indexed to this study by Identifier (NCT Number):
Layout table for additonal information Identifier: NCT00127582     History of Changes
Other Study ID Numbers: GUP02067
First Posted: August 8, 2005    Key Record Dates
Last Update Posted: August 25, 2005
Last Verified: May 2005
Keywords provided by Catholic University of the Sacred Heart:
Myotonic dystrophy type 1
Sudden cardiac death
Ventricular tachyarrhythmias
Additional relevant MeSH terms:
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Myotonic Dystrophy
Muscular Dystrophies
Myotonic Disorders
Death, Sudden, Cardiac
Pathologic Processes
Heart Arrest
Heart Diseases
Cardiovascular Diseases
Death, Sudden
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Nervous System Diseases
Neuromuscular Diseases
Genetic Diseases, Inborn