Myotonic DystrophyNCT00127582
RAMYD Study - Evaluation of Arrhythmic Risk in Myotonic Dystrophy
A study testing Electrophysiological study and pacemaker , implantable cardiac defibrillator or loop-recorder implant in people with Myotonic Dystrophy and Sudden Cardiac Death, run by Catholic University of the Sacred Heart at 1 site in Italy.
Trial summary
This is a prospective multicentric Italian study to evaluate the arrhythmic risk in myotonic dystrophy type 1. Read more about this study
- Who is it for?
- Ages 18 to 70 years
- Conditions the study is for
- Myotonic Dystrophy, Sudden Cardiac Death
- What is being tested?
- Electrophysiological study and pacemaker , implantable cardiac defibrillator or loop-recorder implant
- Type of treatment
- Medical device, Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 537 participants
- Where
- 1 siteItaly
- Study dates
- Jan 2003to Dec 2010
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 70 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Patient affected by myotonic dystrophy type I (MD1).
- Patient willing to provide a signed informed consent.
Who cannot join
- 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
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- 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
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Evaluation of Arrhythmic Risk in Myotonic Dystrophy Type I (DM 1)
This is a prospective multicentric Italian study to evaluate the arrhythmic risk in myotonic dystrophy type 1.
Read the 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:
- Clinical-genetic evaluation;
- Non invasive and invasive diagnostic cardiac procedures;
- The use of devices for diagnostic and therapeutic follow-up.
- Conditions
- Myotonic Dystrophy, Sudden Cardiac Death
- Being tested
- Electrophysiological study, pacemaker , implantable cardiac defibrillator or loop-recorder implant
- Keywords
- Myotonic dystrophy type 1, Sudden cardiac death, Ventricular tachyarrhythmias, Bradyarrhythmias
- Medical subject headings
- Myotonic Dystrophy, Death, Sudden, Cardiac, Tachycardia, Ventricular, Bradycardia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Electrophysiological studyProcedure or surgery
pacemaker , implantable cardiac defibrillator or loop-recorder implantDevice
| Study group | Role | What they receive |
|---|---|---|
| Patient affected by myotonic dystrophy type I (MD1) | Experimental | Cardiac involvement represents a major problem in the clinical management of patient affected by myotonic dystrophy type I (MD1), for whom cardiac complications represent one of the primary causes of premature death. 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. Receives: Procedure: Electrophysiological study; Device: pacemaker , implantable cardiac defibrillator or loop-recorder implant |
What is being measured
The primary outcome is the main question the study is designed to answer.
Incidence of major cardiac events (sudden death)
To assess the 2-year cumulative incidence of sudden death in patients affected by Myotonic dystrophy type 1.
Measured: 2 years
Resuscitated cardiac arrest
To evaluate the value of noninvasive and invasive findings as predictive factors for resuscitated cardiac arrest.
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Aug 2005 (estimated)
- Study startJan 2003
- Primary completionDec 2009
- Study completionDec 2010
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Myotonic DystrophyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 537 participants (actual)
Sponsor and investigators
- Lead sponsor
- Catholic University of the Sacred Heart
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Fulvio Bellocci, MD, Principal investigator, Catholic University of Sacred Heart
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00127582
- Sponsor's protocol ID
- GUP02067
- Status last verified
- Mar 2026
- First submitted
- 4 Aug 2005
- Last updated
- 19 Mar 2026
- Results posted
- No
Publications
Pelargonio 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.
PubMed 12433913Dello Russo A, Mangiola F, Della Bella P, Nigro G, Melacini P, Bongiorni MG, Tondo C, Calo L, Messano L, Pace M, Pelargonio G, Casella M, Sanna T, Silvestri G, Modoni A, Zachara E, Moltrasio M, Morandi L, Nigro G, Politano L, Palladino A, Bellocci F. Risk of arrhythmias in myotonic dystrophy: trial design of the RAMYD study. J Cardiovasc Med (Hagerstown). 2009 Jan;10(1):51-8. doi: 10.2459/jcm.0b013e328319bd2c.
PubMed 19708226
Study at a glance
From the registry record, last updated by the sponsor on 19 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of Arrhythmic Risk in Myotonic Dystrophy Type I (DM 1)
- ClinicalTrials.gov ID
- NCT00127582
- Acronym / sponsor ID
- GUP02067
- Conditions
- Myotonic Dystrophy, Sudden Cardiac Death
- Keywords
- Myotonic dystrophy type 1, Sudden cardiac death, Ventricular tachyarrhythmias, Bradyarrhythmias
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 537 participants (actual)
- Lead sponsor
- Catholic University of the Sacred HeartUniversity, hospital or other
- Study start
- Jan 2003 (actual)
- Primary completion
- Dec 2009 (actual)
- Study completion
- Dec 2010 (actual)
- First posted
- 8 Aug 2005 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This is a prospective multicentric Italian study to evaluate the arrhythmic risk in myotonic dystrophy type 1.
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:
- Clinical-genetic evaluation;
- Non invasive and invasive diagnostic cardiac procedures;
- The use of devices for diagnostic and therapeutic follow-up.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patient affected by myotonic dystrophy type I (MD1) | Experimental | Procedure: Electrophysiological study, Device: pacemaker , implantable cardiac defibrillator or loop-recorder implantCardiac involvement represents a major problem in the clinical management of patient affected by myotonic dystrophy type I (MD1), for whom cardiac complications represent one of the primary causes of premature death. 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. |
Who may qualify
- Ages
- 18 to 70 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (2 listed)
- Patient affected by myotonic dystrophy type I (MD1).
- Patient willing to provide a signed informed consent.
Key exclusion criteria (9 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Electrophysiological study | Procedure or surgery | Patient affected by myotonic dystrophy type I (MD1) |
| pacemaker , implantable cardiac defibrillator or loop-recorder implant | Device | Patient affected by myotonic dystrophy type I (MD1) |
Primary outcome
Incidence of major cardiac events (sudden death)
Time frame: 2 years
To assess the 2-year cumulative incidence of sudden death in patients affected by Myotonic dystrophy type 1.
Resuscitated cardiac arrest
Time frame: 2 years
To evaluate the value of noninvasive and invasive findings as predictive factors for resuscitated cardiac arrest.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Mar 2026.
- Background: PubMed 12433913Pelargonio 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.
- Derived from this study: PubMed 19708226Dello Russo A, Mangiola F, Della Bella P, Nigro G, Melacini P, Bongiorni MG, Tondo C, Calo L, Messano L, Pace M, Pelargonio G, Casella M, Sanna T, Silvestri G, Modoni A, Zachara E, Moltrasio M, Morandi L, Nigro G, Politano L, Palladino A, Bellocci F. Risk of arrhythmias in myotonic dystrophy: trial design of the RAMYD study. J Cardiovasc Med (Hagerstown). 2009 Jan;10(1):51-8. doi: 10.2459/jcm.0b013e328319bd2c.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Fulvio Bellocci, MD principal investigator
Catholic University of Sacred Heart
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Electrophysiological study and pacemaker , implantable cardiac defibrillator or loop-recorder implant in people with Myotonic Dystrophy and Sudden Cardiac Death, run by Catholic University of the Sacred Heart at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 9 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 19 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Incidence of major cardiac events (sudden death) (time frame: 2 years). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00127582, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 19 Mar 2026.