DM1 Heart Registry - DM1 Respiratory Registry (DM1-Heart-R)

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ClinicalTrials.gov Identifier: NCT01136330

Recruitment Status : Completed

First Posted : June 3, 2010

Last Update Posted : February 20, 2012

Sponsor:

Information provided by (Responsible Party):

Karim WAHBI, Institut de Myologie, France

Study Description

Brief Summary:

Myotonic dystrophy type 1 (DM1) is the most frequent neuromuscular disease in adults. DM1 patients have an impaired prognosis (mean age of death <60 years) due to cardiac and respiratory complications.

Our primary objective was to identify cardiac and respiratory prognostic factors in DM1.

Condition or disease
Myotonic Dystrophy

Detailed Description:

Patients with genetically proven DM1 who were admitted in Pitié Salpêtrière Hospital from 2000 and 2010 will be identified. These patients systematically underwent neurological, cardiac and respiratory investigations.
Baseline medical and genetic information will be entered in a dedicated database, including cardiac and respiratory investigations.
The occurence of severe cardiac and respiratory adverse events will also be collected.
Statistical analysis will be performed to look for correlations between baseline patient characteristics and cardiac or respiratory adverse events during follow up.

Study Design

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Study Type :	Observational
Actual Enrollment :	914 participants
Observational Model:	Cohort
Time Perspective:	Retrospective
Official Title:	Cardiac and Respiratory Prognostic Factors in Patients With Myotonic Dystrophy Type 1
Study Start Date :	May 2010
Actual Primary Completion Date :	September 2011
Actual Study Completion Date :	September 2011

Resource links provided by the National Library of Medicine

MedlinePlus Genetics related topics: Myotonic dystrophy

Genetic and Rare Diseases Information Center resources: Myotonic Dystrophy Myotonic Dystrophy Type 1 Muscular Dystrophy

U.S. FDA Resources

Groups and Cohorts

Outcome Measures

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:	18 Years and older (Adult, Older Adult)
Sexes Eligible for Study:	All
Accepts Healthy Volunteers:	No
Sampling Method:	Non-Probability Sample

Study Population

Myotonic dystrophy type 1

Criteria

Inclusion Criteria:

DM1 mutation (>50 CTG repeats)
Age > 18 years

Exclusion Criteria:

Patient refusal

Contacts and Locations

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 ClinicalTrials.gov identifier (NCT number): NCT01136330

Locations

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France
Pitié Salpêtrière Hospital
Paris, Ile de France, France, 75013

Sponsors and Collaborators

Institut de Myologie, France

Investigators

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Study Director:	Denis Duboc, MD,PhD	APHP

More Information

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

Chong-Nguyen C, Wahbi K, Algalarrondo V, Bécane HM, Radvanyi-Hoffman H, Arnaud P, Furling D, Lazarus A, Bassez G, Béhin A, Fayssoil A, Laforêt P, Stojkovic T, Eymard B, Duboc D. Association Between Mutation Size and Cardiac Involvement in Myotonic Dystrophy Type 1: An Analysis of the DM1-Heart Registry. Circ Cardiovasc Genet. 2017 Jun;10(3). pii: e001526. doi: 10.1161/CIRCGENETICS.116.001526.

Wahbi K, Babuty D, Probst V, Wissocque L, Labombarda F, Porcher R, Bécane HM, Lazarus A, Béhin A, Laforêt P, Stojkovic T, Clementy N, Dussauge AP, Gourraud JB, Pereon Y, Lacour A, Chapon F, Milliez P, Klug D, Eymard B, Duboc D. Incidence and predictors of sudden death, major conduction defects and sustained ventricular tachyarrhythmias in 1388 patients with myotonic dystrophy type 1. Eur Heart J. 2017 Mar 7;38(10):751-758. doi: 10.1093/eurheartj/ehw569.

Wahbi K, Algalarrondo V, Bécane HM, Fressart V, Beldjord C, Azibi K, Lazarus A, Berber N, Radvanyi-Hoffman H, Stojkovic T, Béhin A, Laforêt P, Eymard B, Hatem S, Duboc D. Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1. Arch Cardiovasc Dis. 2013 Dec;106(12):635-43. doi: 10.1016/j.acvd.2013.08.003. Epub 2013 Oct 17.

Wahbi K, Meune C, Porcher R, Bécane HM, Lazarus A, Laforêt P, Stojkovic T, Béhin A, Radvanyi-Hoffmann H, Eymard B, Duboc D. Electrophysiological study with prophylactic pacing and survival in adults with myotonic dystrophy and conduction system disease. JAMA. 2012 Mar 28;307(12):1292-301. doi: 10.1001/jama.2012.346. Erratum in: JAMA. 2012 Jul 25;308(4):342.

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Responsible Party:	Karim WAHBI, Karim WAHBI MD,PHD., Institut de Myologie, France
ClinicalTrials.gov Identifier:	NCT01136330
Other Study ID Numbers:	AFM-13286
First Posted:	June 3, 2010 Key Record Dates
Last Update Posted:	February 20, 2012
Last Verified:	February 2012

Keywords provided by Karim WAHBI, Institut de Myologie, France:


Myotonic dystrophy Prognosis Sudden death Respiratory failure

Additional relevant MeSH terms:

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Myotonic Dystrophy Muscular Dystrophies Muscular Disorders, Atrophic Muscular Diseases Musculoskeletal Diseases Myotonic Disorders	Heredodegenerative Disorders, Nervous System Neurodegenerative Diseases Nervous System Diseases Neuromuscular Diseases Genetic Diseases, Inborn

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