ClinicalTrials.gov processed this data on March 27, 2024Link to the current ClinicalTrials.gov record.https://clinicaltrials.gov/ct2/show/NCT00127582GUP02067NCT00127582RAMYD Study - Evaluation of Arrhythmic Risk in Myotonic DystrophyEvaluation of Arrhythmic Risk in Myotonic Dystrophy Type I (DM 1)Catholic University of the Sacred HeartOtherFondazione TelethonOther
This is a prospective multicentric Italian study to evaluate the arrhythmic risk in myotonic
dystrophy type 1.
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.
Unknown statusRecruitingJanuary 2003Phase 3InterventionalNoNon-RandomizedSingle Group AssignmentTreatmentNone (Open Label)Evaluate incidence of: major cardiac events (sudden deathresuscitated cardiac arrestventricular fibrillationsustained ventricular tachycardiasinoatrial and atrioventricular [AV] blocks)Evaluate with diagnostic non-invasive (standard electrocardiogram [ECG]24-hour monitoring ECGsignal-averaged ECGechocardiography) and invasive procedures (electrophysiology study [EPS] and implantable loop recorders) the risk to develop cardiac arrhythmias in DM patients537Myotonic DystrophySudden Cardiac DeathProcedureElectrophysiological studyDevicepacemaker (PM) implant, internal cardiac defibrillator (ICD) implant, loop-recorder implant
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
All18 Years70 YearsNoFulvio Bellocci, MDPrincipal InvestigatorCatholic University of Sacred HeartFulvio Bellocci, MD+390630154187adellorusso@tin.itAntonio Dello Russo, MD+393393971873adellorusso@tin.itCatholic University of Sacred HeartRome00168ItalyRecruitingFulvio Bellocci, MD+390630154187adellorusso@tin.itFulvio Bellocci, MDPrincipal InvestigatorItalyPelargonio G, Dello Russo A, Sanna T, De Martino G, Bellocci F. Myotonic dystrophy and the heart. Heart. 2002 Dec;88(6):665-70. doi: 10.1136/heart.88.6.665. No abstract available.12433913May 2005August 4, 2005August 4, 2005August 8, 2005August 24, 2005August 24, 2005August 25, 2005Myotonic dystrophy type 1Sudden cardiac deathVentricular tachyarrhythmiasBradyarrhythmiasMyotonic DystrophyDeath, Sudden, CardiacDeath