Clinical trial NCT01136330: DM1 Heart Registry - DM1 Respiratory Registry
Official title: Cardiac and Respiratory Prognostic Factors in Patients With Myotonic Dystrophy Type 1
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Myotonic Dystrophy
Keywords: Myotonic dystrophy
Prognosis
Sudden death
Respiratory failure
Lead sponsor: Institut de Myologie, France
Sponsor class: OTHER
First posted: 2010-06-03
Enrollment: 914
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Myotonic dystrophy type 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.

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.

Eligibility criteria: Inclusion Criteria:

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

Exclusion Criteria:

* Patient refusal

Primary outcomes:
Secondary outcomes:
Other outcomes:
Locations:
city: Paris
country: France
facility: Pitié Salpêtrière Hospital
state: Ile de France
Study officials:
affiliation: APHP
name: Denis Duboc, MD,PhD
role: STUDY_DIRECTOR
References:
citation: 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.
citation: 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.
citation: 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.
citation: 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.