DM1 Heart Registry - DM1 Respiratory Registry

NCT01136330 | Completed

• 1 other identifier: AFM-13286
• Study Type: observational
• Target: 914
• Locations: 1 country
• Sites: 1

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.

Conditions

Myotonic Dystrophy

Keywords

Myotonic dystrophy; Prognosis; Sudden death; Respiratory failure

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Myotonic dystrophy type 1

You may qualify if:

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

You may not qualify if:

• Patient refusal

Sponsors & Collaborators

• Institut de Myologie, France: lead

Study Sites (1)

Pitié Salpêtrière Hospital

Paris, Île-de-France Region, 75013, France

Location

Related Publications (4)

• 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.

  PMID: 28611030 DERIVED

• 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.

  PMID: 27941019 DERIVED

• 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.

  PMID: 24140416 DERIVED

• 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.

  PMID: 22453570 DERIVED

MeSH Terms

Conditions

Myotonic Dystrophy; Death, Sudden; Respiratory Insufficiency

Condition Hierarchy (Ancestors)

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; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Death; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Respiration Disorders; Respiratory Tract Diseases

Study Officials

• Denis Duboc, MD,PhD

  APHP

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Karim WAHBI MD,PHD.

Study Record Dates

• First Submitted: June 2, 2010
• First Posted: June 3, 2010
• Study Start: May 1, 2010
• Primary Completion: September 1, 2011
• Study Completion: September 1, 2011
• Last Updated: February 20, 2012

Record last verified: 2012-02

Locations

FR (1)