DM1 Heart Registry - DM1 Respiratory Registry

NCT ID: NCT01136330

Last Updated: 2012-02-20

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 914 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2010-05-31
• Study Completion Date: 2011-09-30

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.

Detailed Description

1. 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.

2. Baseline medical and genetic information will be entered in a dedicated database, including cardiac and respiratory investigations.

3. The occurence of severe cardiac and respiratory adverse events will also be collected.

4. Statistical analysis will be performed to look for correlations between baseline patient characteristics and cardiac or respiratory adverse events during follow up.

Conditions

Myotonic Dystrophy

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: RETROSPECTIVE

Eligibility Criteria

Inclusion Criteria

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

Exclusion Criteria

• Patient refusal

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Institut de Myologie, France

OTHER

Sponsor Role: lead

Responsible Party

Karim WAHBI

Karim WAHBI MD,PHD.

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Denis Duboc, MD,PhD

Role: STUDY_DIRECTOR

APHP

Locations

Pitié Salpêtrière Hospital

Paris, Île-de-France Region, France

Countries

France

References

Chong-Nguyen C, Wahbi K, Algalarrondo V, Becane HM, Radvanyi-Hoffman H, Arnaud P, Furling D, Lazarus A, Bassez G, Behin A, Fayssoil A, Laforet 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):e001526. doi: 10.1161/CIRCGENETICS.116.001526.

Reference Type: DERIVED

PMID: 28611030 (View on PubMed)

Wahbi K, Babuty D, Probst V, Wissocque L, Labombarda F, Porcher R, Becane HM, Lazarus A, Behin A, Laforet 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.

Reference Type: DERIVED

PMID: 27941019 (View on PubMed)

Wahbi K, Algalarrondo V, Becane HM, Fressart V, Beldjord C, Azibi K, Lazarus A, Berber N, Radvanyi-Hoffman H, Stojkovic T, Behin A, Laforet 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.

Reference Type: DERIVED

PMID: 24140416 (View on PubMed)

Wahbi K, Meune C, Porcher R, Becane HM, Lazarus A, Laforet P, Stojkovic T, Behin 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.

Reference Type: DERIVED

PMID: 22453570 (View on PubMed)

Other Identifiers

AFM-13286

Identifier Type: -

Identifier Source: org_study_id