RAMYD Study - Evaluation of Arrhythmic Risk in Myotonic Dystrophy

Sudden Cardiac Death Clinical Trial

Official title:

Evaluation of Arrhythmic Risk in Myotonic Dystrophy Type I (DM 1)

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT00127582
• Other study ID #: GUP02067
• Status: Recruiting
• Phase: Phase 3
• First received: August 4, 2005
• Last updated: August 24, 2005
• Start date: January 2003

Study information

• Verified date: May 2005
• Source: Catholic University of the Sacred Heart
• Contact: Fulvio Bellocci, MD
• Phone: +390630154187
• Email: adellorusso[@]tin.it
• Is FDA regulated: No
• Health authority: Italy: Ministry of Health
• Study type: Interventional

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 537
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 18 Years to 70 Years

Eligibility

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

Study Design

Allocation: Non-Randomized, Endpoint Classification: Safety Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment

Related Conditions & MeSH terms

• Death, Sudden, Cardiac
• Myotonic Dystrophy
• Sudden Cardiac Death

Intervention

Procedure:
• Electrophysiological study

Device:
• pacemaker (PM) implant, internal cardiac defibrillator (ICD) implant, loop-recorder implant

Locations

Country	Name	City	State
Italy	Catholic University of Sacred Heart	Rome

Sponsors (2)

Lead Sponsor	Collaborator
Catholic University of the Sacred Heart	Fondazione Telethon

Country where clinical trial is conducted

Italy, 

References & Publications (1)

Pelargonio G, Dello Russo A, Sanna T, De Martino G, Bellocci F. Myotonic dystrophy and the heart. Heart. 2002 Dec;88(6):665-70. Review. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Evaluate incidence of: major cardiac events (sudden death
Primary	resuscitated cardiac arrest
Primary	ventricular fibrillation
Primary	sustained ventricular tachycardia
Primary	sinoatrial and atrioventricular [AV] blocks)
Secondary	Evaluate with diagnostic non-invasive (standard electrocardiogram [ECG]
Secondary	24-hour monitoring ECG
Secondary	signal-averaged ECG
Secondary	echocardiography) and invasive procedures (electrophysiology study [EPS] and implantable loop recorders) the risk to develop cardiac arrhythmias in DM patients