Myotonic Dystrophy Steinert disease

 

 

 

 

 

 

LAST NEWS

June 2014

Phase 1 clinical trial to treat myotonic dystrophy type 1

Isis Pharmaceurticals, Inc., announced today that it has launched a Phase 1 clinical trial in DM1. This is a normal volunteer study evaluating a single dose of the drug. Next study will be a multiple dose study in patients which should start in the fall if all goes well with this study.

November 2013

News about research on myotonic dystrophy: Congress IDMC9

In October was held in San Sebastian in Spain, 9 th International Congress on Myotonic Dystrophy (IDMC). This conference takes place every two years and all together researchers and practitioners working on myotonic dystrophy to review the research.

Among the highlights, it is to remember :

November 2012

Therapeutics development for myotonic dystrophy type 1 (DM1)

Wheeler TM et al. Targeting nuclear RNA for in vivo correction of myotonic dystrophy. Nature. 2012 Aug 2;488(7409):111-5

A study performed by the University of  Rochester has demonstrated the feasibility of systemic injection of oligonucleotides as a potential treatment for myotonic dystrophy.  This study showed that systemic injection for 4 weeks twice a week of oligonucleotides knockdown mutant RNAs in different skeletal muscles and improves several manifestations of the disease in a mouse model of DM1.  It is the first demonstration, which supports the use of systemic injection of oligonucleotides as potential treatment of DM1 and opens the possibility of clinical trials in a near future.

Electrophysiological study with prophylactic pacing increase survival after 9 years

Wahbi K et al. Electrophysiological study with prophylactic pacing and survival in adults with myotonic dystrophy and conduction system disease. JAMA. 2012 Mar 28;307(12):1292-301

A French study showed that invasive electrophysiological study and prophylactic permanent spacing is associated with a higher rate of 9-year survival than noninvasive strategy suggesting that invasive electrophysiological study could be useful in cardiac evaluation of patients with DM1. 

Patient-reported impact of symptoms in myotonic dystrophy type 1 (DM1)

Heatwole C et al. Patient-reported impact of symptoms in myotonic dystrophy type 1 (PRISM-1). Neurology. 2012 Jul 24;79(4):348-57.

A study performed by the University of Rochester in 278 adult patients with DM1 revealed that the most frequent manifestations are problems with hand or arms, fatigue, myotonia and excessive daytime sleepiness and that fatigue and limitation in mobility have the greatest effect on their quality of lives.